Timeline
Every change the pipeline noticed, newest first: documents added, sources that changed their text, insights created or strengthened. This is the audit trail behind “what is new”.
2026-11-14 (359 events)
insight added
2026-11-14 16:44 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-14 16:44 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-14 16:44 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 16:44 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-14 16:44 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 16:44 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-14 16:44 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-14 16:44 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-14 16:44 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-14 16:44 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-14 16:44 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-14 16:44 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-14 16:44 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-14 16:44 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-14 16:44 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-14 16:44 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-14 16:44 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-14 16:44 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-14 16:44 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-14 16:44 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-14 16:44 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-14 16:44 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-14 16:44 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-14 16:44 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-14 16:44 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-14 16:44 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-14 16:44 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-14 16:44 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-14 16:44 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-14 16:44 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-14 16:44 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-14 16:44 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-14 16:44 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-14 16:44 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
insight added
2026-11-14 16:44 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-14 16:44 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-14 16:44 New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
2026-11-14 16:44 New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
insight added
2026-11-14 16:44 New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
2026-11-14 16:44 New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
insight added
2026-11-14 16:44 New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
2026-11-14 16:44 New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
insight added
2026-11-14 16:44 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-14 16:44 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-14 16:44 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-14 16:44 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-14 16:44 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-14 16:44 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-14 16:44 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-14 16:44 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-14 16:44 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-14 16:44 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-14 16:44 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-14 16:44 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-14 16:44 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-14 16:44 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-14 16:44 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-14 16:44 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-14 16:44 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-14 16:44 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-14 16:44 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-14 16:44 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-14 16:44 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-14 16:44 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-14 16:44 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-14 16:44 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-14 16:44 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-14 16:44 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-14 16:44 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-14 16:44 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-14 16:44 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-14 16:44 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-14 16:44 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-14 16:44 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-14 16:44 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-14 16:44 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-14 16:44 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-14 16:44 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-14 16:44 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-14 16:44 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-14 16:44 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-14 16:44 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-14 16:44 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-14 16:44 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-14 16:44 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-14 16:44 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-14 16:44 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-14 16:44 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-14 16:44 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-14 16:44 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-14 16:44 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-14 16:44 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-14 16:44 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-14 16:44 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-14 16:44 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-14 16:44 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-14 16:44 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-14 16:44 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-14 16:44 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-14 16:44 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-14 16:44 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-14 16:44 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-14 16:44 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-14 16:44 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-14 16:44 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-14 16:44 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-14 16:44 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-14 16:44 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-14 16:44 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-14 16:44 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-14 16:44 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-14 16:44 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-14 16:44 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-14 16:44 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-14 16:44 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-14 16:44 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-14 16:44 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-14 16:44 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-14 16:44 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-14 16:44 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-14 16:44 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-14 16:44 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-14 16:44 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-14 16:44 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-14 16:44 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-14 16:44 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-14 16:44 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-14 16:44 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-14 16:44 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-14 16:44 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-14 16:44 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-14 16:44 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-14 16:44 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-14 16:44 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-14 16:44 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-14 16:44 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-14 16:44 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-14 16:44 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-14 16:44 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-14 16:44 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-14 16:44 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-14 16:44 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-14 16:44 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-14 16:44 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-14 16:44 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-14 16:44 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-14 16:44 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-14 16:44 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-14 16:44 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-14 16:44 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-14 16:44 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-14 16:44 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-14 16:44 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-14 16:44 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-14 16:44 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-14 16:44 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-14 16:44 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-14 16:44 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-14 16:44 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-14 16:44 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-14 16:44 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-14 16:44 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-14 16:44 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-14 16:44 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-14 16:44 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-14 16:44 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-14 16:44 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-14 16:44 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-14 16:44 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-14 16:44 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-14 16:44 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-14 16:44 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-14 16:44 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-14 16:44 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-14 16:44 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-14 16:44 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-14 16:44 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-14 16:44 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-14 16:44 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-14 16:44 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-14 16:44 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-14 16:44 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-14 16:44 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-14 16:44 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-14 16:44 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-14 16:44 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-14 16:44 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-14 16:44 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-14 16:44 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-14 16:44 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-14 16:44 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-14 16:44 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-14 16:44 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-14 16:44 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-14 16:44 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-14 16:44 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-14 16:44 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-14 16:44 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-14 16:44 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-14 16:44 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-14 16:44 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 16:44 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-14 16:44 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-14 16:44 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-14 16:44 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 16:44 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-14 16:44 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-14 16:44 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-14 16:44 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-14 16:44 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-14 16:44 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-14 16:44 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-14 16:44 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-14 16:44 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-14 16:44 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-14 16:44 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-14 16:44 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-14 16:44 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-14 16:44 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-14 16:44 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-14 16:44 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-14 16:44 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-14 16:44 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-14 16:44 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-14 16:44 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-14 16:44 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-14 16:44 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-14 16:44 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-14 16:44 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-14 16:44 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-14 16:44 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-14 16:44 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-14 16:44 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-14 16:44 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-14 16:44 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-14 16:44 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-14 16:44 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-14 16:44 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-14 16:44 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-14 16:44 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-14 16:44 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-14 16:44 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-14 16:44 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-14 16:44 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-14 16:44 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-14 16:44 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-14 16:44 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-14 16:44 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-14 16:44 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-14 16:44 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
insight added
2026-11-14 08:20 Updated: Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
pubmed changed: +376/-0 sentences since the previous capture.
2026-11-14 08:20 Updated: Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
pubmed changed: +376/-0 sentences since the previous capture.
document updated
2026-11-14 07:04 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
+0 / -0 sentences
2026-11-14 07:04 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
+0 / -0 sentences
document updated
2026-11-14 06:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
+376 / -0 sentences
2026-11-14 06:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
+376 / -0 sentences
insight added
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
Congenital anomalies of kidney and urinary tract Description Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract.
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
Congenital anomalies of kidney and urinary tract Description Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract.
insight strengthened
2026-11-14 05:38 HNF1B appears alongside kidney and urinary tract in 273 sources
Corroboration rose to 273 documents
2026-11-14 05:38 HNF1B appears alongside kidney and urinary tract in 273 sources
Corroboration rose to 273 documents
insight strengthened
2026-11-14 05:38 HNF1B appears alongside diabetes and metabolism in 243 sources
Corroboration rose to 243 documents
2026-11-14 05:38 HNF1B appears alongside diabetes and metabolism in 243 sources
Corroboration rose to 243 documents
insight strengthened
2026-11-14 05:38 HNF1B appears alongside learning, speech and behaviour in 117 sources
Corroboration rose to 117 documents
2026-11-14 05:38 HNF1B appears alongside learning, speech and behaviour in 117 sources
Corroboration rose to 117 documents
insight strengthened
2026-11-14 05:38 HNF1B appears alongside genital and müllerian development in 104 sources
Corroboration rose to 104 documents
2026-11-14 05:38 HNF1B appears alongside genital and müllerian development in 104 sources
Corroboration rose to 104 documents
insight strengthened
2026-11-14 05:38 HNF1B appears alongside eyes, ears and hearing in 38 sources
Corroboration rose to 38 documents
2026-11-14 05:38 HNF1B appears alongside eyes, ears and hearing in 38 sources
Corroboration rose to 38 documents
insight added
2026-11-14 05:38 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-14 05:38 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
insight added
2026-11-14 05:38 New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
2026-11-14 05:38 New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
insight added
2026-11-14 05:38 New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
2026-11-14 05:38 New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
insight added
2026-11-14 05:38 New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
2026-11-14 05:38 New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
insight strengthened
2026-11-14 05:38 Research discussed in 151 sources
Corroboration rose to 151 documents
2026-11-14 05:38 Research discussed in 151 sources
Corroboration rose to 151 documents
document added
2026-11-14 05:38 Clinical and research tests for 6928 - Genetic Testing Registry (GTR) - NCBI
New article from institutional (relevance 0.45)
2026-11-14 05:38 Clinical and research tests for 6928 - Genetic Testing Registry (GTR) - NCBI
New article from institutional (relevance 0.45)
document added
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
New article from web (relevance 1.0)
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
New article from web (relevance 1.0)
insight added
2026-11-14 04:51 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
ALS etiology and prognostic factors are mostly unknown. Metabolic diseases and especially diabetes mellitus (DM) have been variously related to ALS.
2026-11-14 04:51 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
ALS etiology and prognostic factors are mostly unknown. Metabolic diseases and especially diabetes mellitus (DM) have been variously related to ALS.
insight added
2026-11-14 04:51 Renal cysts and diabetes syndrome
Medical condition Renal cysts and diabetes syndrome ( RCAD ), also known as MODY 5 or HNF1B-MODY , is a form of maturity onset diabetes of the young .
2026-11-14 04:51 Renal cysts and diabetes syndrome
Medical condition Renal cysts and diabetes syndrome ( RCAD ), also known as MODY 5 or HNF1B-MODY , is a form of maturity onset diabetes of the young .
insight added
2026-11-14 04:51 Updated: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
pubmed changed: +0/-298 sentences since the previous capture.
2026-11-14 04:51 Updated: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
pubmed changed: +0/-298 sentences since the previous capture.
insight strengthened
2026-11-14 04:51 HNF1B appears alongside kidney and urinary tract in 271 sources
Corroboration rose to 271 documents
2026-11-14 04:51 HNF1B appears alongside kidney and urinary tract in 271 sources
Corroboration rose to 271 documents
insight strengthened
2026-11-14 04:51 HNF1B appears alongside diabetes and metabolism in 241 sources
Corroboration rose to 241 documents
2026-11-14 04:51 HNF1B appears alongside diabetes and metabolism in 241 sources
Corroboration rose to 241 documents
insight strengthened
2026-11-14 04:51 HNF1B appears alongside liver and gallbladder in 134 sources
Corroboration rose to 134 documents
2026-11-14 04:51 HNF1B appears alongside liver and gallbladder in 134 sources
Corroboration rose to 134 documents
insight strengthened
2026-11-14 04:51 HNF1B appears alongside genital and müllerian development in 103 sources
Corroboration rose to 103 documents
2026-11-14 04:51 HNF1B appears alongside genital and müllerian development in 103 sources
Corroboration rose to 103 documents
insight added
2026-11-14 04:51 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-14 04:51 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
insight added
2026-11-14 04:51 DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ]
A source reports “8.5%” in the context of general: “DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ].”
2026-11-14 04:51 DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ]
A source reports “8.5%” in the context of general: “DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ].”
insight added
2026-11-14 04:51 Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls repor
A source reports “1288 cases” in the context of diabetes metabolic: “Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls reported a protective role of DM...
2026-11-14 04:51 Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls repor
A source reports “1288 cases” in the context of diabetes metabolic: “Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls reported a protective role of DM...
insight strengthened
2026-11-14 04:51 Therapy discussed in 142 sources
Corroboration rose to 142 documents
2026-11-14 04:51 Therapy discussed in 142 sources
Corroboration rose to 142 documents
document updated
2026-11-14 04:34 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
+0 / -298 sentences
2026-11-14 04:34 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
+0 / -298 sentences
document added
2026-11-14 04:17 Renal cysts and diabetes syndrome
New reference from wikipedia (relevance 1.0)
2026-11-14 04:17 Renal cysts and diabetes syndrome
New reference from wikipedia (relevance 1.0)
insight strengthened
2026-11-14 03:51 LHX1 appears alongside kidney and urinary tract in 56 sources
Corroboration rose to 56 documents
2026-11-14 03:51 LHX1 appears alongside kidney and urinary tract in 56 sources
Corroboration rose to 56 documents
insight strengthened
2026-11-14 03:51 LHX1 appears alongside genital and müllerian development in 44 sources
Corroboration rose to 44 documents
2026-11-14 03:51 LHX1 appears alongside genital and müllerian development in 44 sources
Corroboration rose to 44 documents
insight strengthened
2026-11-14 03:51 LHX1 appears alongside growth, gut and nutrition in 19 sources
Corroboration rose to 19 documents
2026-11-14 03:51 LHX1 appears alongside growth, gut and nutrition in 19 sources
Corroboration rose to 19 documents
insight added
2026-11-14 03:51 LHX1 appears alongside tumour risk in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with tumour risk in 11 independent documents (of 66 documents mentioning LHX1 and 133 mentioning tumour risk). Association strength 0.08.
2026-11-14 03:51 LHX1 appears alongside tumour risk in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with tumour risk in 11 independent documents (of 66 documents mentioning LHX1 and 133 mentioning tumour risk). Association strength 0.08.
insight added
2026-11-14 03:51 New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
2026-11-14 03:51 New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
insight added
2026-11-14 03:51 New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
2026-11-14 03:51 New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
insight added
2026-11-14 03:51 New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
2026-11-14 03:51 New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
insight added
2026-11-14 03:51 Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64
A source reports “64%” in the context of kidney: “Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64% of patients [ 9 ].”
2026-11-14 03:51 Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64
A source reports “64%” in the context of kidney: “Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64% of patients [ 9 ].”
insight added
2026-11-14 03:51 Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenot
A source reports “1.5%” in the context of kidney: “Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenotype in ∼1.5% of patients [ 10 ].”
2026-11-14 03:51 Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenot
A source reports “1.5%” in the context of kidney: “Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenotype in ∼1.5% of patients [ 10 ].”
insight added
2026-11-14 03:51 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling.
2026-11-14 03:51 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling.
insight added
2026-11-14 03:51 LHX1
Protein-coding gene in the species Homo sapiens LIM homeobox 1 also known as Lim-1 is a protein that in humans is encoded by the LHX1 gene .
2026-11-14 03:51 LHX1
Protein-coding gene in the species Homo sapiens LIM homeobox 1 also known as Lim-1 is a protein that in humans is encoded by the LHX1 gene .
insight added
2026-11-14 03:51 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
Kidney organoids made from pluripotent stem cells have the potential to revolutionize how kidney development, disease, and injury are studied.
2026-11-14 03:51 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
Kidney organoids made from pluripotent stem cells have the potential to revolutionize how kidney development, disease, and injury are studied.
document updated
2026-11-14 03:14 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+0 / -0 sentences
2026-11-14 03:14 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+0 / -0 sentences
document added
2026-11-14 03:08 LHX1
New reference from wikipedia (relevance 0.847)
2026-11-14 03:08 LHX1
New reference from wikipedia (relevance 0.847)
document updated
2026-11-14 03:04 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -0 sentences
2026-11-14 03:04 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -0 sentences
document updated
2026-11-14 02:40 17q12 Recurrent Deletion Syndrome in Childhood
+0 / -0 sentences
2026-11-14 02:40 17q12 Recurrent Deletion Syndrome in Childhood
+0 / -0 sentences
document updated
2026-11-14 02:40 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+0 / -0 sentences
2026-11-14 02:40 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+0 / -0 sentences
document updated
2026-11-14 02:37 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+0 / -0 sentences
2026-11-14 02:37 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+0 / -0 sentences
document updated
2026-11-14 02:36 Genetics of CAKUT
+0 / -0 sentences
2026-11-14 02:36 Genetics of CAKUT
+0 / -0 sentences
document updated
2026-11-14 02:30 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+2 / -43 sentences
2026-11-14 02:30 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+2 / -43 sentences
document updated
2026-11-14 02:21 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -223 sentences
2026-11-14 02:21 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -223 sentences
document updated
2026-11-14 01:55 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+162 / -8 sentences
2026-11-14 01:55 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+162 / -8 sentences
document updated
2026-11-14 01:55 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+406 / -8 sentences
2026-11-14 01:55 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+406 / -8 sentences
document updated
2026-11-14 01:55 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+233 / -7 sentences
2026-11-14 01:55 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+233 / -7 sentences
document updated
2026-11-14 01:54 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+520 / -13 sentences
2026-11-14 01:54 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+520 / -13 sentences
document updated
2026-11-14 01:54 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+799 / -3 sentences
2026-11-14 01:54 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+799 / -3 sentences
insight added
2026-11-14 01:38 17q12 Recurrent Deletion Syndrome in Childhood
Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability.
2026-11-14 01:38 17q12 Recurrent Deletion Syndrome in Childhood
Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability.
insight added
2026-11-14 01:38 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
Hepatocyte nuclear factor 1β ( HNF1β )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems.
2026-11-14 01:38 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
Hepatocyte nuclear factor 1β ( HNF1β )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems.
insight added
2026-11-14 01:38 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Introduction In South Korea, low‐resolution chromosomal microarray analysis (LR‐CMA) is frequently used as a screening tool to identify chromosomal anomalies in asymptomatic newborns.
2026-11-14 01:38 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Introduction In South Korea, low‐resolution chromosomal microarray analysis (LR‐CMA) is frequently used as a screening tool to identify chromosomal anomalies in asymptomatic newborns.
insight added
2026-11-14 01:38 Genetics of CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide.
2026-11-14 01:38 Genetics of CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide.
insight added
2026-11-14 01:38 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2666-5778 6 2 2026 May AJOG global reports AJOG Glob Rep Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2026-11-14 01:38 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2666-5778 6 2 2026 May AJOG global reports AJOG Glob Rep Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
insight added
2026-11-14 01:38 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2296-858X 13 2026 Frontiers in medicine Front Med (Lausanne) 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2026-11-14 01:38 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2296-858X 13 2026 Frontiers in medicine Front Med (Lausanne) 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
insight added
2026-11-14 01:38 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2296-2360 14 2026 Frontiers in pediatrics Front Pediatr Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2026-11-14 01:38 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2296-2360 14 2026 Frontiers in pediatrics Front Pediatr Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
insight added
2026-11-14 01:38 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
1664-2392 17 2026 Frontiers in endocrinology Front Endocrinol (Lausanne) A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
2026-11-14 01:38 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
1664-2392 17 2026 Frontiers in endocrinology Front Endocrinol (Lausanne) A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
insight added
2026-11-14 01:38 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
2048-8505 19 7 2026 Jul Clinical kidney journal Clin Kidney J HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges. sfag185 sfag185 sfag185 10.1093/ckj/sfag185...
2026-11-14 01:38 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
2048-8505 19 7 2026 Jul Clinical kidney journal Clin Kidney J HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges. sfag185 sfag185 sfag185 10.1093/ckj/sfag185...
insight added
2026-11-14 01:38 Updated: 17q12 Recurrent Deletion Syndrome in Childhood
pmc changed: +3/-90 sentences since the previous capture.
2026-11-14 01:38 Updated: 17q12 Recurrent Deletion Syndrome in Childhood
pmc changed: +3/-90 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
pmc changed: +4/-28 sentences since the previous capture.
2026-11-14 01:38 Updated: Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
pmc changed: +4/-28 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
pmc changed: +17/-42 sentences since the previous capture.
2026-11-14 01:38 Updated: Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
pmc changed: +17/-42 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: Genetics of CAKUT
pmc changed: +1/-59 sentences since the previous capture.
2026-11-14 01:38 Updated: Genetics of CAKUT
pmc changed: +1/-59 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia duri
pubmed changed: +3/-8 sentences since the previous capture.
2026-11-14 01:38 Updated: Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia duri
pubmed changed: +3/-8 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
pubmed changed: +2/-8 sentences since the previous capture.
2026-11-14 01:38 Updated: 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
pubmed changed: +2/-8 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center ret
pubmed changed: +3/-7 sentences since the previous capture.
2026-11-14 01:38 Updated: Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center ret
pubmed changed: +3/-7 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
pubmed changed: +2/-13 sentences since the previous capture.
2026-11-14 01:38 Updated: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
pubmed changed: +2/-13 sentences since the previous capture.
insight added
2026-11-14 01:38 Updated: HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
pubmed changed: +3/-3 sentences since the previous capture.
2026-11-14 01:38 Updated: HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
pubmed changed: +3/-3 sentences since the previous capture.
insight added
2026-11-14 01:38 Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 indiv
A source reports “075 individuals” in the context of neurodevelopment: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
2026-11-14 01:38 Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 indiv
A source reports “075 individuals” in the context of neurodevelopment: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
insight added
2026-11-14 01:38 The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospe
A source reports “13.3%” in the context of mullerian gu: “The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospermia, epididymal cysts, and epididymal...
2026-11-14 01:38 The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospe
A source reports “13.3%” in the context of mullerian gu: “The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospermia, epididymal cysts, and epididymal...
insight added
2026-11-14 01:38 18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotr
A source reports “18 Patients” in the context of hepatic: “18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotransferase and γ-glutamyl transferase,...
2026-11-14 01:38 18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotr
A source reports “18 Patients” in the context of hepatic: “18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotransferase and γ-glutamyl transferase,...
insight added
2026-11-14 01:38 Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), ab
A source reports “12.1%” in the context of kidney: “Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), abnormal amniotic fluid levels ( n = 3),...
2026-11-14 01:38 Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), ab
A source reports “12.1%” in the context of kidney: “Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), abnormal amniotic fluid levels ( n = 3),...
insight added
2026-11-14 01:38 At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly
A source reports “3.0%” in the context of neurodevelopment: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
2026-11-14 01:38 At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly
A source reports “3.0%” in the context of neurodevelopment: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
insight added
2026-11-14 01:38 While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity sugge
A source reports “0.015%” in the context of general: “While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity suggest that not all carriers will manifest...
2026-11-14 01:38 While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity sugge
A source reports “0.015%” in the context of general: “While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity suggest that not all carriers will manifest...
insight added
2026-11-14 01:38 Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity
A source reports “6 %” in the context of cardiac: “Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity (neurocognitive, cardiac).”
2026-11-14 01:38 Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity
A source reports “6 %” in the context of cardiac: “Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity (neurocognitive, cardiac).”
document updated
2026-11-14 01:37 17q12 Recurrent Deletion Syndrome in Childhood
+3 / -90 sentences
2026-11-14 01:37 17q12 Recurrent Deletion Syndrome in Childhood
+3 / -90 sentences
document updated
2026-11-14 01:36 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+4 / -28 sentences
2026-11-14 01:36 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+4 / -28 sentences
document updated
2026-11-14 01:32 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+17 / -42 sentences
2026-11-14 01:32 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+17 / -42 sentences
document updated
2026-11-14 01:32 Genetics of CAKUT
+1 / -59 sentences
2026-11-14 01:32 Genetics of CAKUT
+1 / -59 sentences
document updated
2026-11-14 00:53 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+3 / -8 sentences
2026-11-14 00:53 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+3 / -8 sentences
document updated
2026-11-14 00:53 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+2 / -8 sentences
2026-11-14 00:53 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+2 / -8 sentences
document updated
2026-11-14 00:53 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+3 / -7 sentences
2026-11-14 00:53 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+3 / -7 sentences
document updated
2026-11-14 00:53 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+2 / -13 sentences
2026-11-14 00:53 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+2 / -13 sentences
document updated
2026-11-14 00:52 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+3 / -3 sentences
2026-11-14 00:52 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+3 / -3 sentences
insight added
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
17q12 deletion syndrome Description 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell.
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
17q12 deletion syndrome Description 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell.
insight added
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
Maturity-onset diabetes of the young Description Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
Maturity-onset diabetes of the young Description Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.
insight added
2026-11-14 00:51 FAQs – 17q12 Patient Registry
The purpose of the 17q12 Patient Registry is to bring the chromosome 17q12 deletion and duplication syndrome community together and collect data.
2026-11-14 00:51 FAQs – 17q12 Patient Registry
The purpose of the 17q12 Patient Registry is to bring the chromosome 17q12 deletion and duplication syndrome community together and collect data.
insight strengthened
2026-11-14 00:51 HNF1B appears alongside kidney and urinary tract in 270 sources
Corroboration rose to 270 documents
2026-11-14 00:51 HNF1B appears alongside kidney and urinary tract in 270 sources
Corroboration rose to 270 documents
insight strengthened
2026-11-14 00:51 HNF1B appears alongside diabetes and metabolism in 240 sources
Corroboration rose to 240 documents
2026-11-14 00:51 HNF1B appears alongside diabetes and metabolism in 240 sources
Corroboration rose to 240 documents
insight strengthened
2026-11-14 00:51 HNF1B appears alongside liver and gallbladder in 133 sources
Corroboration rose to 133 documents
2026-11-14 00:51 HNF1B appears alongside liver and gallbladder in 133 sources
Corroboration rose to 133 documents
insight strengthened
2026-11-14 00:51 HNF1B appears alongside learning, speech and behaviour in 115 sources
Corroboration rose to 115 documents
2026-11-14 00:51 HNF1B appears alongside learning, speech and behaviour in 115 sources
Corroboration rose to 115 documents
insight strengthened
2026-11-14 00:51 HNF1B appears alongside genital and müllerian development in 102 sources
Corroboration rose to 102 documents
2026-11-14 00:51 HNF1B appears alongside genital and müllerian development in 102 sources
Corroboration rose to 102 documents
insight strengthened
2026-11-14 00:51 LHX1 appears alongside kidney and urinary tract in 55 sources
Corroboration rose to 55 documents
2026-11-14 00:51 LHX1 appears alongside kidney and urinary tract in 55 sources
Corroboration rose to 55 documents
insight strengthened
2026-11-14 00:51 LHX1 appears alongside genital and müllerian development in 43 sources
Corroboration rose to 43 documents
2026-11-14 00:51 LHX1 appears alongside genital and müllerian development in 43 sources
Corroboration rose to 43 documents
insight strengthened
2026-11-14 00:51 LHX1 appears alongside diabetes and metabolism in 39 sources
Corroboration rose to 39 documents
2026-11-14 00:51 LHX1 appears alongside diabetes and metabolism in 39 sources
Corroboration rose to 39 documents
insight strengthened
2026-11-14 00:51 HNF1B appears alongside eyes, ears and hearing in 37 sources
Corroboration rose to 37 documents
2026-11-14 00:51 HNF1B appears alongside eyes, ears and hearing in 37 sources
Corroboration rose to 37 documents
insight strengthened
2026-11-14 00:51 LHX1 appears alongside learning, speech and behaviour in 37 sources
Corroboration rose to 37 documents
2026-11-14 00:51 LHX1 appears alongside learning, speech and behaviour in 37 sources
Corroboration rose to 37 documents
insight strengthened
2026-11-14 00:51 LHX1 appears alongside liver and gallbladder in 28 sources
Corroboration rose to 28 documents
2026-11-14 00:51 LHX1 appears alongside liver and gallbladder in 28 sources
Corroboration rose to 28 documents
insight added
2026-11-14 00:51 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-14 00:51 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-14 00:51 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 00:51 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-14 00:51 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 00:51 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-14 00:51 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-14 00:51 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-14 00:51 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-14 00:51 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-14 00:51 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-14 00:51 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-14 00:51 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-14 00:51 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-14 00:51 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-14 00:51 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-14 00:51 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-14 00:51 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-14 00:51 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-14 00:51 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-14 00:51 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-14 00:51 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-14 00:51 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-14 00:51 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-14 00:51 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-14 00:51 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-14 00:51 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-14 00:51 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-14 00:51 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-14 00:51 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-14 00:51 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-14 00:51 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-14 00:51 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-14 00:51 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-14 00:51 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-14 00:51 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-14 00:51 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-14 00:51 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-14 00:51 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-14 00:51 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-14 00:51 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-14 00:51 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-14 00:51 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-14 00:51 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-14 00:51 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-14 00:51 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-14 00:51 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-14 00:51 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-14 00:51 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-14 00:51 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-14 00:51 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-14 00:51 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-14 00:51 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-14 00:51 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-14 00:51 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-14 00:51 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-14 00:51 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-14 00:51 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-14 00:51 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-14 00:51 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-14 00:51 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-14 00:51 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-14 00:51 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-14 00:51 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-14 00:51 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-14 00:51 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-14 00:51 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-14 00:51 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-14 00:51 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-14 00:51 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-14 00:51 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-14 00:51 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-14 00:51 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-14 00:51 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-14 00:51 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-14 00:51 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-14 00:51 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-14 00:51 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-14 00:51 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-14 00:51 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-14 00:51 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-14 00:51 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-14 00:51 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-14 00:51 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-14 00:51 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-14 00:51 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-14 00:51 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-14 00:51 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-14 00:51 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-14 00:51 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-14 00:51 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-14 00:51 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-14 00:51 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-14 00:51 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-14 00:51 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-14 00:51 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-14 00:51 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-14 00:51 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-14 00:51 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-14 00:51 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-14 00:51 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-14 00:51 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-14 00:51 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-14 00:51 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-14 00:51 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-14 00:51 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-14 00:51 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-14 00:51 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-14 00:51 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-14 00:51 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-14 00:51 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-14 00:51 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-14 00:51 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-14 00:51 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-14 00:51 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-14 00:51 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-14 00:51 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-14 00:51 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-14 00:51 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-14 00:51 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-14 00:51 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-14 00:51 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-14 00:51 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-14 00:51 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-14 00:51 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-14 00:51 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-14 00:51 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-14 00:51 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-14 00:51 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-14 00:51 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-14 00:51 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-14 00:51 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-14 00:51 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-14 00:51 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-14 00:51 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-14 00:51 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-14 00:51 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-14 00:51 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-14 00:51 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-14 00:51 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-14 00:51 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-14 00:51 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-14 00:51 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-14 00:51 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-14 00:51 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-14 00:51 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-14 00:51 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-14 00:51 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-14 00:51 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-14 00:51 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-14 00:51 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-14 00:51 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-14 00:51 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-14 00:51 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-14 00:51 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-14 00:51 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-14 00:51 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-14 00:51 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-14 00:51 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-14 00:51 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-14 00:51 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-14 00:51 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-14 00:51 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-14 00:51 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-14 00:51 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-14 00:51 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-14 00:51 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-14 00:51 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-14 00:51 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-14 00:51 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-14 00:51 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-14 00:51 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-14 00:51 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-14 00:51 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-14 00:51 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-14 00:51 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-14 00:51 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-14 00:51 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-14 00:51 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-14 00:51 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-14 00:51 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-14 00:51 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-14 00:51 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-14 00:51 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-14 00:51 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-14 00:51 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-14 00:51 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-14 00:51 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-14 00:51 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-14 00:51 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-14 00:51 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-14 00:51 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-14 00:51 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 00:51 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-14 00:51 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-14 00:51 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-14 00:51 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 00:51 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-14 00:51 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-14 00:51 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-14 00:51 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-14 00:51 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-14 00:51 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-14 00:51 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-14 00:51 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-14 00:51 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-14 00:51 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-14 00:51 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-14 00:51 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-14 00:51 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-14 00:51 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-14 00:51 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-14 00:51 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-14 00:51 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-14 00:51 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-14 00:51 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-14 00:51 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-14 00:51 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-14 00:51 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-14 00:51 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-14 00:51 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-14 00:51 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
insight added
2026-11-14 00:51 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-14 00:51 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-14 00:51 The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MO
A source reports “70 percent” in the context of diabetes metabolic: “The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MODY2), accounting for 30 to...
2026-11-14 00:51 The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MO
A source reports “70 percent” in the context of diabetes metabolic: “The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MODY2), accounting for 30 to...
insight added
2026-11-14 00:51 Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY
A source reports “10 percent” in the context of kidney: “Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to...
2026-11-14 00:51 Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY
A source reports “10 percent” in the context of kidney: “Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to...
insight added
2026-11-14 00:51 Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes
A source reports “3 percent” in the context of diabetes metabolic: “Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes.”
2026-11-14 00:51 Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes
A source reports “3 percent” in the context of diabetes metabolic: “Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes.”
insight strengthened
2026-11-14 00:51 Research discussed in 150 sources
Corroboration rose to 150 documents
2026-11-14 00:51 Research discussed in 150 sources
Corroboration rose to 150 documents
insight strengthened
2026-11-14 00:51 Therapy discussed in 141 sources
Corroboration rose to 141 documents
2026-11-14 00:51 Therapy discussed in 141 sources
Corroboration rose to 141 documents
insight added
2026-11-14 00:51 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-14 00:51 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-14 00:51 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-14 00:51 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-14 00:51 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-14 00:51 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-14 00:51 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-14 00:51 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-14 00:51 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-14 00:51 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-14 00:51 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-14 00:51 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-14 00:51 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-14 00:51 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-14 00:51 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-14 00:51 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-14 00:51 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-14 00:51 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-14 00:51 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-14 00:51 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-14 00:51 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-14 00:51 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document added
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
New article from web (relevance 1.0)
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
New article from web (relevance 1.0)
document added
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
New article from web (relevance 1.0)
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
New article from web (relevance 1.0)
document added
2026-11-14 00:49 FAQs – 17q12 Patient Registry
New case_report from patient_org (relevance 1.0)
2026-11-14 00:49 FAQs – 17q12 Patient Registry
New case_report from patient_org (relevance 1.0)
2026-11-13 (1275 events)
insight added
2026-11-13 23:38 Contact – 17q12 Patient Registry
Institutional Review Board (IRB) An Institutional Review Board, for the purpose of protecting your/the Study Participant's rights, has reviewed this registry.
2026-11-13 23:38 Contact – 17q12 Patient Registry
Institutional Review Board (IRB) An Institutional Review Board, for the purpose of protecting your/the Study Participant's rights, has reviewed this registry.
insight added
2026-11-13 23:38 News – 17q12 Patient Registry
The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
2026-11-13 23:38 News – 17q12 Patient Registry
The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
insight added
2026-11-13 23:38 How To Register – 17q12 Patient Registry
How To Register – 17q12 Patient Registry
2026-11-13 23:38 How To Register – 17q12 Patient Registry
How To Register – 17q12 Patient Registry
insight added
2026-11-13 23:38 For Reseachers – 17q12 Patient Registry
For Researchers 17q12 Patient Registry For Researchers The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal...
2026-11-13 23:38 For Reseachers – 17q12 Patient Registry
For Researchers 17q12 Patient Registry For Researchers The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal...
insight added
2026-11-13 23:38 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 23:38 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-13 23:38 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 23:38 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 23:38 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 23:38 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 23:38 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 23:38 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-13 23:38 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 23:38 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-13 23:38 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 23:38 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-13 23:38 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 23:38 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-13 23:38 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 23:38 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-13 23:38 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 23:38 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-13 23:38 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 23:38 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-13 23:38 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 23:38 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-13 23:38 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 23:38 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-13 23:38 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 23:38 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-13 23:38 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 23:38 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-13 23:38 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 23:38 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-13 23:38 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 23:38 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-13 23:38 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 23:38 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-13 23:38 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 23:38 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-13 23:38 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 23:38 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-13 23:38 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 23:38 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-13 23:38 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 23:38 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 23:38 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 23:38 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-13 23:38 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 23:38 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-13 23:38 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 23:38 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-13 23:38 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 23:38 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-13 23:38 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 23:38 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-13 23:38 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 23:38 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-13 23:38 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 23:38 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-13 23:38 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 23:38 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-13 23:38 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 23:38 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-13 23:38 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 23:38 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-13 23:38 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 23:38 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-13 23:38 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 23:38 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-13 23:38 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 23:38 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-13 23:38 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 23:38 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-13 23:38 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 23:38 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-13 23:38 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 23:38 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-13 23:38 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 23:38 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-13 23:38 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 23:38 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-13 23:38 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 23:38 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-13 23:38 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 23:38 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-13 23:38 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 23:38 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-13 23:38 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 23:38 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-13 23:38 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 23:38 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-13 23:38 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 23:38 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-13 23:38 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 23:38 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-13 23:38 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 23:38 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-13 23:38 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 23:38 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-13 23:38 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 23:38 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-13 23:38 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 23:38 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-13 23:38 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 23:38 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-13 23:38 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 23:38 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-13 23:38 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 23:38 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-13 23:38 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 23:38 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-13 23:38 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 23:38 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-13 23:38 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 23:38 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-13 23:38 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 23:38 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-13 23:38 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 23:38 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-13 23:38 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 23:38 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-13 23:38 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 23:38 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-13 23:38 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 23:38 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-13 23:38 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 23:38 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-13 23:38 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 23:38 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-13 23:38 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 23:38 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-13 23:38 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 23:38 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-13 23:38 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 23:38 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-13 23:38 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 23:38 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-13 23:38 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 23:38 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-13 23:38 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 23:38 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-13 23:38 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 23:38 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-13 23:38 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 23:38 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-13 23:38 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 23:38 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-13 23:38 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 23:38 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-13 23:38 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 23:38 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-13 23:38 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 23:38 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-13 23:38 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 23:38 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-13 23:38 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 23:38 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-13 23:38 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 23:38 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-13 23:38 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 23:38 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-13 23:38 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 23:38 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-13 23:38 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 23:38 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-13 23:38 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 23:38 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-13 23:38 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 23:38 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-13 23:38 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 23:38 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-13 23:38 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 23:38 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-13 23:38 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 23:38 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-13 23:38 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 23:38 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-13 23:38 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 23:38 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-13 23:38 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 23:38 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-13 23:38 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 23:38 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-13 23:38 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 23:38 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-13 23:38 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 23:38 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-13 23:38 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 23:38 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-13 23:38 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 23:38 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-13 23:38 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 23:38 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-13 23:38 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 23:38 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-13 23:38 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 23:38 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 23:38 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 23:38 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-13 23:38 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 23:38 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 23:38 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 23:38 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-13 23:38 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 23:38 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-13 23:38 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 23:38 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-13 23:38 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 23:38 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-13 23:38 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 23:38 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-13 23:38 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 23:38 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-13 23:38 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 23:38 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-13 23:38 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 23:38 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-13 23:38 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 23:38 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-13 23:38 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 23:38 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-13 23:38 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 23:38 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-13 23:38 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 23:38 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
insight added
2026-11-13 23:38 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 23:38 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight strengthened
2026-11-13 23:38 Research discussed in 149 sources
Corroboration rose to 149 documents
2026-11-13 23:38 Research discussed in 149 sources
Corroboration rose to 149 documents
insight added
2026-11-13 23:38 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 23:38 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-13 23:38 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 23:38 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-13 23:38 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 23:38 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-13 23:38 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 23:38 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-13 23:38 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 23:38 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-13 23:38 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 23:38 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-13 23:38 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 23:38 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-13 23:38 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 23:38 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-13 23:38 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 23:38 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-13 23:38 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 23:38 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-13 23:38 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 23:38 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document added
2026-11-13 23:37 Contact – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
2026-11-13 23:37 Contact – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
document added
2026-11-13 23:37 News – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
2026-11-13 23:37 News – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
document added
2026-11-13 23:37 How To Register – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
2026-11-13 23:37 How To Register – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
document added
2026-11-13 23:37 For Reseachers – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
2026-11-13 23:37 For Reseachers – 17q12 Patient Registry
New community from patient_org (relevance 1.0)
insight added
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
insight added
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
insight added
2026-11-13 21:06 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 21:06 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-13 21:06 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 21:06 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 21:06 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 21:06 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 21:06 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 21:06 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-13 21:06 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 21:06 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-13 21:06 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 21:06 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-13 21:06 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 21:06 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-13 21:06 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 21:06 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-13 21:06 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 21:06 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-13 21:06 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 21:06 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-13 21:06 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 21:06 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-13 21:06 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 21:06 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-13 21:06 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 21:06 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-13 21:06 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 21:06 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-13 21:06 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 21:06 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-13 21:06 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 21:06 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-13 21:06 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 21:06 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-13 21:06 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 21:06 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-13 21:06 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 21:06 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-13 21:06 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 21:06 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-13 21:06 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 21:06 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 21:06 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 21:06 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-13 21:06 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 21:06 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-13 21:06 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 21:06 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-13 21:06 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 21:06 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-13 21:06 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 21:06 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-13 21:06 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 21:06 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-13 21:06 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 21:06 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-13 21:06 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 21:06 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-13 21:06 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 21:06 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-13 21:06 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 21:06 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-13 21:06 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 21:06 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-13 21:06 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 21:06 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-13 21:06 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 21:06 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-13 21:06 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 21:06 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-13 21:06 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 21:06 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-13 21:06 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 21:06 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-13 21:06 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 21:06 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-13 21:06 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 21:06 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-13 21:06 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 21:06 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-13 21:06 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 21:06 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-13 21:06 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 21:06 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-13 21:06 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 21:06 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-13 21:06 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 21:06 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-13 21:06 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 21:06 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-13 21:06 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 21:06 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-13 21:06 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 21:06 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-13 21:06 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 21:06 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-13 21:06 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 21:06 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-13 21:06 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 21:06 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-13 21:06 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 21:06 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-13 21:06 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 21:06 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-13 21:06 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 21:06 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-13 21:06 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 21:06 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-13 21:06 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 21:06 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-13 21:06 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 21:06 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-13 21:06 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 21:06 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-13 21:06 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 21:06 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-13 21:06 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 21:06 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-13 21:06 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 21:06 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-13 21:06 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 21:06 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-13 21:06 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 21:06 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-13 21:06 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 21:06 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-13 21:06 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 21:06 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-13 21:06 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 21:06 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-13 21:06 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 21:06 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-13 21:06 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 21:06 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-13 21:06 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 21:06 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-13 21:06 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 21:06 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-13 21:06 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 21:06 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-13 21:06 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 21:06 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-13 21:06 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 21:06 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-13 21:06 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 21:06 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-13 21:06 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 21:06 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-13 21:06 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 21:06 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-13 21:06 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 21:06 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-13 21:06 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 21:06 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-13 21:06 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 21:06 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-13 21:06 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 21:06 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-13 21:06 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 21:06 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-13 21:06 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 21:06 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-13 21:06 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 21:06 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-13 21:06 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 21:06 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-13 21:06 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 21:06 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-13 21:06 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 21:06 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-13 21:06 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 21:06 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-13 21:06 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 21:06 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-13 21:06 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 21:06 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-13 21:06 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 21:06 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-13 21:06 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 21:06 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-13 21:06 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 21:06 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-13 21:06 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 21:06 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-13 21:06 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 21:06 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-13 21:06 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 21:06 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-13 21:06 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 21:06 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-13 21:06 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 21:06 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-13 21:06 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 21:06 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 21:06 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 21:06 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-13 21:06 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 21:06 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 21:06 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 21:06 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-13 21:06 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 21:06 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-13 21:06 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 21:06 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-13 21:06 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 21:06 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-13 21:06 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 21:06 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-13 21:06 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 21:06 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-13 21:06 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 21:06 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-13 21:06 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 21:06 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-13 21:06 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 21:06 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-13 21:06 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 21:06 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-13 21:06 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 21:06 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-13 21:06 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 21:06 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
insight added
2026-11-13 21:06 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 21:06 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight strengthened
2026-11-13 21:06 Research discussed in 145 sources
Corroboration rose to 145 documents
2026-11-13 21:06 Research discussed in 145 sources
Corroboration rose to 145 documents
insight added
2026-11-13 21:06 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 21:06 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-13 21:06 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 21:06 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-13 21:06 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 21:06 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-13 21:06 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 21:06 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-13 21:06 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 21:06 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-13 21:06 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 21:06 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-13 21:06 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 21:06 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-13 21:06 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 21:06 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-13 21:06 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 21:06 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-13 21:06 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 21:06 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-13 21:06 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 21:06 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document added
2026-11-13 21:06 17q12 Patient Registry
New community from patient_org (relevance 1.0)
2026-11-13 21:06 17q12 Patient Registry
New community from patient_org (relevance 1.0)
document added
2026-11-13 21:06 17q12 Patient Registry
New community from patient_org (relevance 1.0)
2026-11-13 21:06 17q12 Patient Registry
New community from patient_org (relevance 1.0)
insight added
2026-11-13 19:42 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 19:42 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-13 19:42 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 19:42 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 19:42 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 19:42 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-13 19:42 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 19:42 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-13 19:42 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 19:42 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-13 19:42 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 19:42 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-13 19:42 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 19:42 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-13 19:42 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 19:42 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-13 19:42 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 19:42 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-13 19:42 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 19:42 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-13 19:42 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 19:42 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-13 19:42 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 19:42 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-13 19:42 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 19:42 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-13 19:42 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 19:42 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-13 19:42 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 19:42 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-13 19:42 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 19:42 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-13 19:42 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 19:42 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-13 19:42 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 19:42 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-13 19:42 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 19:42 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 19:42 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-13 19:42 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 19:42 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-13 19:42 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 19:42 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-13 19:42 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 19:42 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-13 19:42 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 19:42 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-13 19:42 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 19:42 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-13 19:42 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 19:42 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-13 19:42 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 19:42 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-13 19:42 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 19:42 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-13 19:42 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 19:42 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-13 19:42 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 19:42 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-13 19:42 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 19:42 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-13 19:42 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 19:42 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-13 19:42 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 19:42 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-13 19:42 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 19:42 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-13 19:42 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 19:42 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-13 19:42 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 19:42 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-13 19:42 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 19:42 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-13 19:42 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 19:42 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-13 19:42 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 19:42 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-13 19:42 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 19:42 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-13 19:42 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 19:42 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-13 19:42 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 19:42 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-13 19:42 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 19:42 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-13 19:42 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 19:42 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-13 19:42 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 19:42 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-13 19:42 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 19:42 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-13 19:42 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 19:42 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-13 19:42 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 19:42 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-13 19:42 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 19:42 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-13 19:42 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 19:42 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-13 19:42 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 19:42 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-13 19:42 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 19:42 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-13 19:42 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 19:42 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-13 19:42 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 19:42 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-13 19:42 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 19:42 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-13 19:42 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 19:42 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-13 19:42 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 19:42 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-13 19:42 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 19:42 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-13 19:42 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 19:42 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-13 19:42 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 19:42 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-13 19:42 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 19:42 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-13 19:42 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 19:42 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-13 19:42 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 19:42 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-13 19:42 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 19:42 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-13 19:42 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 19:42 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 19:42 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-13 19:42 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 19:42 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-13 19:42 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 19:42 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-13 19:42 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 19:42 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-13 19:42 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 19:42 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-13 19:42 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 19:42 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-13 19:42 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 19:42 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-13 19:42 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 19:42 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-13 19:42 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 19:42 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-13 19:42 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 19:42 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 19:42 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-13 19:42 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 19:42 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-13 19:42 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 19:42 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-13 19:42 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 19:42 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-13 19:42 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 19:42 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-13 19:42 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 19:42 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-13 19:42 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 19:42 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-13 19:42 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 19:42 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-13 19:42 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 19:42 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-13 19:42 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 19:42 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-13 19:42 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 19:42 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-13 19:42 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 19:42 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-13 19:42 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 19:42 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-13 19:42 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 19:42 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-13 19:42 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 19:42 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-13 19:42 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 19:42 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-13 19:42 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 19:42 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-13 19:42 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 19:42 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 19:42 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-13 19:42 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 19:42 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 19:42 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-13 19:42 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 19:42 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-13 19:42 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 19:42 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-13 19:42 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 19:42 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-13 19:42 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 19:42 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-13 19:42 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 19:42 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-13 19:42 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 19:42 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-13 19:42 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 19:42 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-13 19:42 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 19:42 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-13 19:42 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 19:42 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-13 19:42 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 19:42 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-13 19:42 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 19:42 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
insight added
2026-11-13 19:42 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
insight added
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
insight added
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
insight added
2026-11-13 19:42 17q12 microdeletions (rarechromo.org patient leaflet)
17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of the body's chromosomes has been lost or deleted.
2026-11-13 19:42 17q12 microdeletions (rarechromo.org patient leaflet)
17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of the body's chromosomes has been lost or deleted.
insight added
2026-11-13 19:42 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
2026-11-13 19:42 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
insight added
2026-11-13 19:42 HNF1B gene: MedlinePlus Genetics
HNF1B gene HNF1 homeobox B Normal Function The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β).
2026-11-13 19:42 HNF1B gene: MedlinePlus Genetics
HNF1B gene HNF1 homeobox B Normal Function The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β).
insight added
2026-11-13 19:42 For Patients – 17q12 Patient Registry
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
2026-11-13 19:42 For Patients – 17q12 Patient Registry
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
insight added
2026-11-13 19:42 17q12 Foundation - National Organization for Rare Disorders
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in...
2026-11-13 19:42 17q12 Foundation - National Organization for Rare Disorders
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in...
insight added
2026-11-13 19:42 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
2026-11-13 19:42 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
insight strengthened
2026-11-13 19:42 HNF1B appears alongside kidney and urinary tract in 268 sources
Corroboration rose to 268 documents
2026-11-13 19:42 HNF1B appears alongside kidney and urinary tract in 268 sources
Corroboration rose to 268 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside diabetes and metabolism in 238 sources
Corroboration rose to 238 documents
2026-11-13 19:42 HNF1B appears alongside diabetes and metabolism in 238 sources
Corroboration rose to 238 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside liver and gallbladder in 131 sources
Corroboration rose to 131 documents
2026-11-13 19:42 HNF1B appears alongside liver and gallbladder in 131 sources
Corroboration rose to 131 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside learning, speech and behaviour in 114 sources
Corroboration rose to 114 documents
2026-11-13 19:42 HNF1B appears alongside learning, speech and behaviour in 114 sources
Corroboration rose to 114 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside genital and müllerian development in 101 sources
Corroboration rose to 101 documents
2026-11-13 19:42 HNF1B appears alongside genital and müllerian development in 101 sources
Corroboration rose to 101 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside growth, gut and nutrition in 74 sources
Corroboration rose to 74 documents
2026-11-13 19:42 HNF1B appears alongside growth, gut and nutrition in 74 sources
Corroboration rose to 74 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside tumour risk in 59 sources
Corroboration rose to 59 documents
2026-11-13 19:42 HNF1B appears alongside tumour risk in 59 sources
Corroboration rose to 59 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside kidney and urinary tract in 54 sources
Corroboration rose to 54 documents
2026-11-13 19:42 LHX1 appears alongside kidney and urinary tract in 54 sources
Corroboration rose to 54 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside genital and müllerian development in 42 sources
Corroboration rose to 42 documents
2026-11-13 19:42 LHX1 appears alongside genital and müllerian development in 42 sources
Corroboration rose to 42 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside skeleton and limbs in 40 sources
Corroboration rose to 40 documents
2026-11-13 19:42 HNF1B appears alongside skeleton and limbs in 40 sources
Corroboration rose to 40 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside diabetes and metabolism in 38 sources
Corroboration rose to 38 documents
2026-11-13 19:42 LHX1 appears alongside diabetes and metabolism in 38 sources
Corroboration rose to 38 documents
insight strengthened
2026-11-13 19:42 HNF1B appears alongside eyes, ears and hearing in 36 sources
Corroboration rose to 36 documents
2026-11-13 19:42 HNF1B appears alongside eyes, ears and hearing in 36 sources
Corroboration rose to 36 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside learning, speech and behaviour in 36 sources
Corroboration rose to 36 documents
2026-11-13 19:42 LHX1 appears alongside learning, speech and behaviour in 36 sources
Corroboration rose to 36 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside liver and gallbladder in 27 sources
Corroboration rose to 27 documents
2026-11-13 19:42 LHX1 appears alongside liver and gallbladder in 27 sources
Corroboration rose to 27 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside skeleton and limbs in 22 sources
Corroboration rose to 22 documents
2026-11-13 19:42 LHX1 appears alongside skeleton and limbs in 22 sources
Corroboration rose to 22 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside growth, gut and nutrition in 18 sources
Corroboration rose to 18 documents
2026-11-13 19:42 LHX1 appears alongside growth, gut and nutrition in 18 sources
Corroboration rose to 18 documents
insight strengthened
2026-11-13 19:42 LHX1 appears alongside eyes, ears and hearing in 12 sources
Corroboration rose to 12 documents
2026-11-13 19:42 LHX1 appears alongside eyes, ears and hearing in 12 sources
Corroboration rose to 12 documents
insight added
2026-11-13 19:42 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 19:42 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-13 19:42 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 19:42 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 19:42 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 19:42 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-13 19:42 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 19:42 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-13 19:42 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 19:42 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-13 19:42 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 19:42 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-13 19:42 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 19:42 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-13 19:42 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 19:42 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-13 19:42 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 19:42 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-13 19:42 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 19:42 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-13 19:42 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 19:42 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-13 19:42 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 19:42 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-13 19:42 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 19:42 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-13 19:42 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 19:42 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-13 19:42 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 19:42 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-13 19:42 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 19:42 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-13 19:42 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 19:42 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-13 19:42 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 19:42 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-13 19:42 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 19:42 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 19:42 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-13 19:42 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 19:42 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-13 19:42 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 19:42 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-13 19:42 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 19:42 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-13 19:42 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 19:42 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-13 19:42 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 19:42 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-13 19:42 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 19:42 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-13 19:42 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 19:42 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-13 19:42 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 19:42 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 19:42 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-13 19:42 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 19:42 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-13 19:42 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 19:42 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-13 19:42 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 19:42 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-13 19:42 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 19:42 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-13 19:42 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 19:42 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-13 19:42 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 19:42 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-13 19:42 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 19:42 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-13 19:42 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 19:42 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-13 19:42 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 19:42 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-13 19:42 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 19:42 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-13 19:42 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 19:42 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-13 19:42 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 19:42 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-13 19:42 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 19:42 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-13 19:42 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 19:42 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-13 19:42 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 19:42 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-13 19:42 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 19:42 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-13 19:42 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 19:42 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-13 19:42 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 19:42 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-13 19:42 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 19:42 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-13 19:42 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 19:42 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-13 19:42 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 19:42 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-13 19:42 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 19:42 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-13 19:42 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 19:42 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-13 19:42 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 19:42 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-13 19:42 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 19:42 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-13 19:42 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 19:42 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-13 19:42 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 19:42 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-13 19:42 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 19:42 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-13 19:42 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 19:42 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-13 19:42 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 19:42 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-13 19:42 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 19:42 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-13 19:42 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 19:42 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-13 19:42 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 19:42 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-13 19:42 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 19:42 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-13 19:42 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 19:42 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-13 19:42 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 19:42 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-13 19:42 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 19:42 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 19:42 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-13 19:42 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 19:42 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-13 19:42 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 19:42 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-13 19:42 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 19:42 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-13 19:42 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 19:42 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-13 19:42 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 19:42 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-13 19:42 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 19:42 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-13 19:42 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 19:42 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-13 19:42 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 19:42 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-13 19:42 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 19:42 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-13 19:42 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 19:42 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-13 19:42 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 19:42 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-13 19:42 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 19:42 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-13 19:42 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 19:42 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-13 19:42 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 19:42 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-13 19:42 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 19:42 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-13 19:42 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 19:42 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-13 19:42 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 19:42 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-13 19:42 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 19:42 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-13 19:42 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 19:42 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-13 19:42 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 19:42 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-13 19:42 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 19:42 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-13 19:42 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 19:42 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-13 19:42 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 19:42 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-13 19:42 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 19:42 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-13 19:42 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 19:42 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-13 19:42 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 19:42 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-13 19:42 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 19:42 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 19:42 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-13 19:42 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 19:42 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 19:42 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-13 19:42 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 19:42 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-13 19:42 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 19:42 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-13 19:42 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 19:42 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-13 19:42 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 19:42 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-13 19:42 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 19:42 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-13 19:42 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 19:42 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-13 19:42 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 19:42 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-13 19:42 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 19:42 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-13 19:42 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 19:42 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-13 19:42 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 19:42 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-13 19:42 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 19:42 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
insight added
2026-11-13 19:42 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 19:42 In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion
A source reports “63 cases” in the context of mullerian gu: “In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion.”
2026-11-13 19:42 In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion
A source reports “63 cases” in the context of mullerian gu: “In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion.”
insight strengthened
2026-11-13 19:42 Surveillance discussed in 307 sources
Corroboration rose to 307 documents
2026-11-13 19:42 Surveillance discussed in 307 sources
Corroboration rose to 307 documents
insight strengthened
2026-11-13 19:42 Counseling discussed in 207 sources
Corroboration rose to 207 documents
2026-11-13 19:42 Counseling discussed in 207 sources
Corroboration rose to 207 documents
insight strengthened
2026-11-13 19:42 Research discussed in 143 sources
Corroboration rose to 143 documents
2026-11-13 19:42 Research discussed in 143 sources
Corroboration rose to 143 documents
insight strengthened
2026-11-13 19:42 Therapy discussed in 140 sources
Corroboration rose to 140 documents
2026-11-13 19:42 Therapy discussed in 140 sources
Corroboration rose to 140 documents
insight added
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document added
2026-11-13 19:39 Patient Organizations - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
2026-11-13 19:39 Patient Organizations - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
document added
2026-11-13 19:36 Patient Organizations - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
2026-11-13 19:36 Patient Organizations - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
document added
2026-11-13 19:33 17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of
New community from patient_org (relevance 1.0)
2026-11-13 19:33 17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of
New community from patient_org (relevance 1.0)
document added
2026-11-13 19:33 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
New guideline from web (relevance 1.0)
2026-11-13 19:33 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
New guideline from web (relevance 1.0)
document added
2026-11-13 19:33 HNF1B gene: MedlinePlus Genetics
New article from web (relevance 1.0)
2026-11-13 19:33 HNF1B gene: MedlinePlus Genetics
New article from web (relevance 1.0)
document added
2026-11-13 19:33 For Patients – 17q12 Patient Registry
New guideline from patient_org (relevance 1.0)
2026-11-13 19:33 For Patients – 17q12 Patient Registry
New guideline from patient_org (relevance 1.0)
document added
2026-11-13 19:33 17q12 Foundation - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
2026-11-13 19:33 17q12 Foundation - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
document added
2026-11-13 19:32 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
2026-11-13 19:32 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
New community from patient_org (relevance 1.0)
insight strengthened
2026-11-13 13:51 Surveillance discussed in 305 sources
Corroboration rose to 305 documents
2026-11-13 13:51 Surveillance discussed in 305 sources
Corroboration rose to 305 documents
insight added
2026-11-13 13:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
2026-11-13 13:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
insight strengthened
2026-11-13 13:51 HNF1B appears alongside kidney and urinary tract in 265 sources
Corroboration rose to 265 documents
2026-11-13 13:51 HNF1B appears alongside kidney and urinary tract in 265 sources
Corroboration rose to 265 documents
insight strengthened
2026-11-13 13:51 HNF1B appears alongside diabetes and metabolism in 235 sources
Corroboration rose to 235 documents
2026-11-13 13:51 HNF1B appears alongside diabetes and metabolism in 235 sources
Corroboration rose to 235 documents
insight strengthened
2026-11-13 13:51 HNF1B appears alongside growth, gut and nutrition in 73 sources
Corroboration rose to 73 documents
2026-11-13 13:51 HNF1B appears alongside growth, gut and nutrition in 73 sources
Corroboration rose to 73 documents
document added
2026-11-13 12:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
New article from pubmed (relevance 1.0)
2026-11-13 12:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
New article from pubmed (relevance 1.0)
insight added
2026-11-13 10:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Objective To summarize the etiologies, clinical manifestations, and genetic profiles of children with hypomagnesemia admitted to the Department of Pediatric Endocrinology, Metabolism and Genetics (PEGM).
2026-11-13 10:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Objective To summarize the etiologies, clinical manifestations, and genetic profiles of children with hypomagnesemia admitted to the Department of Pediatric Endocrinology, Metabolism and Genetics (PEGM).
insight strengthened
2026-11-13 10:12 HNF1B appears alongside kidney and urinary tract in 264 sources
Corroboration rose to 264 documents
2026-11-13 10:12 HNF1B appears alongside kidney and urinary tract in 264 sources
Corroboration rose to 264 documents
insight strengthened
2026-11-13 10:12 HNF1B appears alongside diabetes and metabolism in 234 sources
Corroboration rose to 234 documents
2026-11-13 10:12 HNF1B appears alongside diabetes and metabolism in 234 sources
Corroboration rose to 234 documents
insight strengthened
2026-11-13 10:12 HNF1B appears alongside learning, speech and behaviour in 111 sources
Corroboration rose to 111 documents
2026-11-13 10:12 HNF1B appears alongside learning, speech and behaviour in 111 sources
Corroboration rose to 111 documents
insight strengthened
2026-11-13 10:12 HNF1B appears alongside genital and müllerian development in 98 sources
Corroboration rose to 98 documents
2026-11-13 10:12 HNF1B appears alongside genital and müllerian development in 98 sources
Corroboration rose to 98 documents
insight strengthened
2026-11-13 10:12 HNF1B appears alongside growth, gut and nutrition in 72 sources
Corroboration rose to 72 documents
2026-11-13 10:12 HNF1B appears alongside growth, gut and nutrition in 72 sources
Corroboration rose to 72 documents
insight strengthened
2026-11-13 10:12 HNF1B appears alongside the heart in 64 sources
Corroboration rose to 64 documents
2026-11-13 10:12 HNF1B appears alongside the heart in 64 sources
Corroboration rose to 64 documents
insight added
2026-11-13 10:12 In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%)
A source reports “54.55%” in the context of kidney: “In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%) or detected incidentally (36.36%).”
2026-11-13 10:12 In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%)
A source reports “54.55%” in the context of kidney: “In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%) or detected incidentally (36.36%).”
insight added
2026-11-13 10:12 Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%
A source reports “50.0%” in the context of diabetes metabolic: “Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%.”
2026-11-13 10:12 Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%
A source reports “50.0%” in the context of diabetes metabolic: “Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%.”
insight added
2026-11-13 10:12 Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up
A source reports “21.43%” in the context of kidney: “Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up.”
2026-11-13 10:12 Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up
A source reports “21.43%” in the context of kidney: “Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up.”
insight added
2026-11-13 10:12 Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients
A source reports “39.29%” in the context of kidney: “Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients, especially in those with HNF1B-related MODY.”
2026-11-13 10:12 Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients
A source reports “39.29%” in the context of kidney: “Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients, especially in those with HNF1B-related MODY.”
insight added
2026-11-13 10:12 2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were id
A source reports “36 patients” in the context of kidney: “2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were identified; of those, 28 patients [15...
2026-11-13 10:12 2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were id
A source reports “36 patients” in the context of kidney: “2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were identified; of those, 28 patients [15...
insight added
2026-11-13 10:12 The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-1
A source reports “85%” in the context of kidney: “The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-10% in the distal tubule [ 5 ].”
2026-11-13 10:12 The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-1
A source reports “85%” in the context of kidney: “The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-10% in the distal tubule [ 5 ].”
insight strengthened
2026-11-13 10:12 Surveillance discussed in 304 sources
Corroboration rose to 304 documents
2026-11-13 10:12 Surveillance discussed in 304 sources
Corroboration rose to 304 documents
insight strengthened
2026-11-13 10:12 Counseling discussed in 206 sources
Corroboration rose to 206 documents
2026-11-13 10:12 Counseling discussed in 206 sources
Corroboration rose to 206 documents
insight strengthened
2026-11-13 10:12 Therapy discussed in 137 sources
Corroboration rose to 137 documents
2026-11-13 10:12 Therapy discussed in 137 sources
Corroboration rose to 137 documents
document added
2026-11-13 10:09 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
New article from pmc (relevance 1.0)
2026-11-13 10:09 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
New article from pmc (relevance 1.0)
insight added
2026-11-13 09:12 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY Maturity-onset diabetes of the young...
2026-11-13 09:12 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY Maturity-onset diabetes of the young...
insight added
2026-11-13 09:12 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Methods: We designed and evaluated a 28-gene ADPKD-spectrum hybrid-capture panel in a 16-sample, two-configuration pilot using 694 analytical target intervals per sample.
2026-11-13 09:12 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Methods: We designed and evaluated a 28-gene ADPKD-spectrum hybrid-capture panel in a 16-sample, two-configuration pilot using 694 analytical target intervals per sample.
insight added
2026-11-13 09:12 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
OBJECTIVE To characterize the prevalence and penetrance of maturity-onset diabetes of the young (MODY) in a multi-ancestry population using a genotype-first design.
2026-11-13 09:12 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
OBJECTIVE To characterize the prevalence and penetrance of maturity-onset diabetes of the young (MODY) in a multi-ancestry population using a genotype-first design.
insight added
2026-11-13 09:12 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of...
2026-11-13 09:12 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of...
insight added
2026-11-13 09:12 Clinical impact of genetic testing in inherited kidney diseases
Background Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are a clinically heterogeneous subset of chronic kidney disease and rank among the leading causes of kidney...
2026-11-13 09:12 Clinical impact of genetic testing in inherited kidney diseases
Background Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are a clinically heterogeneous subset of chronic kidney disease and rank among the leading causes of kidney...
insight added
2026-11-13 09:12 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient Cystic renal diseases are a complex group of conditions that range in severity from mild
2026-11-13 09:12 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient Cystic renal diseases are a complex group of conditions that range in severity from mild
insight added
2026-11-13 09:12 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review Supplementary Material 1: Supplementary Figure 1.
2026-11-13 09:12 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review Supplementary Material 1: Supplementary Figure 1.
insight added
2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Background Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to...
2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Background Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to...
insight added
2026-11-13 09:12 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 Background Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas,...
2026-11-13 09:12 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 Background Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas,...
insight added
2026-11-13 09:12 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report Introduction: 17q12 deletion features kidney/genital abnormalities,...
2026-11-13 09:12 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report Introduction: 17q12 deletion features kidney/genital abnormalities,...
insight added
2026-11-13 09:12 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice Introduction Maturity-onset diabetes of the young...
2026-11-13 09:12 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice Introduction Maturity-onset diabetes of the young...
insight added
2026-11-13 09:12 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
Background Developmental dyslexia (DD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur and are believed to share genetic risk factors.
2026-11-13 09:12 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
Background Developmental dyslexia (DD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur and are believed to share genetic risk factors.
insight added
2026-11-13 09:12 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as...
2026-11-13 09:12 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as...
insight added
2026-11-13 09:12 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease Advanced prenatal imaging and chromosomal...
2026-11-13 09:12 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease Advanced prenatal imaging and chromosomal...
insight added
2026-11-13 09:12 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom The patient had presented symptoms during preschool years with motor coordination difficulties, deviant reactions to sensory stimuli and separation anxiety.
2026-11-13 09:12 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom The patient had presented symptoms during preschool years with motor coordination difficulties, deviant reactions to sensory stimuli and separation anxiety.
insight added
2026-11-13 09:12 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
2026-11-13 09:12 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
insight added
2026-11-13 09:12 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases.
2026-11-13 09:12 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases.
insight added
2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
Background Fetal polycystic kidney disease (FPDK) is a common ultrasound finding, but its genetic causes vary widely, and data from Yunnan Province are scarce.
2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
Background Fetal polycystic kidney disease (FPDK) is a common ultrasound finding, but its genetic causes vary widely, and data from Yunnan Province are scarce.
insight added
2026-11-13 09:12 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
Objective: To evaluate the prenatal phenotypic spectrum in correlation with chromosomal copy number variations and their pregnancy outcomes.
2026-11-13 09:12 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
Objective: To evaluate the prenatal phenotypic spectrum in correlation with chromosomal copy number variations and their pregnancy outcomes.
insight added
2026-11-13 09:12 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
Primary hypothyroidism is managed with oral levothyroxine (LT4) using a daily dose of 1.5 to 2 µg per kg. Elevated thyroid-stimulating hormone (TSH) despite a high dose of LT4 is a common problem and could be due to...
2026-11-13 09:12 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
Primary hypothyroidism is managed with oral levothyroxine (LT4) using a daily dose of 1.5 to 2 µg per kg. Elevated thyroid-stimulating hormone (TSH) despite a high dose of LT4 is a common problem and could be due to...
insight added
2026-11-13 09:12 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major...
2026-11-13 09:12 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major...
insight added
2026-11-13 09:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study To summarize the etiologies, clinical manifestations, and genetic profiles of children with...
2026-11-13 09:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study To summarize the etiologies, clinical manifestations, and genetic profiles of children with...
insight added
2026-11-13 09:12 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
Copy-number variants (CNVs) represent an important source of genetic variation that can influence complex traits and disease risk by altering gene dosage, disrupting coding sequence, or modifying regulatory elements.
2026-11-13 09:12 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
Copy-number variants (CNVs) represent an important source of genetic variation that can influence complex traits and disease risk by altering gene dosage, disrupting coding sequence, or modifying regulatory elements.
insight added
2026-11-13 09:12 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports Introduction: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes characterized by early onset...
2026-11-13 09:12 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports Introduction: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes characterized by early onset...
insight added
2026-11-13 09:12 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes.
2026-11-13 09:12 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes.
insight added
2026-11-13 09:12 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation Interpreting HNF1B variants is challenging in...
2026-11-13 09:12 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation Interpreting HNF1B variants is challenging in...
insight added
2026-11-13 09:12 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing Dear Editor, A 26-year-old woman, G2P1A0, underwent a normal nuchal...
2026-11-13 09:12 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing Dear Editor, A 26-year-old woman, G2P1A0, underwent a normal nuchal...
insight added
2026-11-13 09:12 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a...
2026-11-13 09:12 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a...
insight added
2026-11-13 09:12 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study Background Limited reports have investigated the genetic etiology of fetuses...
2026-11-13 09:12 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study Background Limited reports have investigated the genetic etiology of fetuses...
insight added
2026-11-13 09:12 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes...
2026-11-13 09:12 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes...
insight added
2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review BACKGROUND: Pathogenic variants in the HNF1B gene cause a multi system disorder...
2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review BACKGROUND: Pathogenic variants in the HNF1B gene cause a multi system disorder...
insight added
2026-11-13 09:12 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
17q12 deletion syndrome presenting with chronic pancreatitis: a case report Introduction: 17q12 deletion syndrome is a rare autosomal dominant disorder classically characterized by renal cystic disease,...
2026-11-13 09:12 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
17q12 deletion syndrome presenting with chronic pancreatitis: a case report Introduction: 17q12 deletion syndrome is a rare autosomal dominant disorder classically characterized by renal cystic disease,...
insight added
2026-11-13 09:12 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report BACKGROUND Renal cysts and diabetes syndrome (RCAD), caused by heterozygous variants or whole-gene deletions in the HNF1B gene, is a rare,...
2026-11-13 09:12 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report BACKGROUND Renal cysts and diabetes syndrome (RCAD), caused by heterozygous variants or whole-gene deletions in the HNF1B gene, is a rare,...
insight added
2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.
2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.
insight added
2026-11-13 09:12 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet
Retraction notice to "Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype" [Eur.
2026-11-13 09:12 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet
Retraction notice to "Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype" [Eur.
insight strengthened
2026-11-13 09:12 HNF1B appears alongside kidney and urinary tract in 263 sources
Corroboration rose to 263 documents
2026-11-13 09:12 HNF1B appears alongside kidney and urinary tract in 263 sources
Corroboration rose to 263 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside diabetes and metabolism in 233 sources
Corroboration rose to 233 documents
2026-11-13 09:12 HNF1B appears alongside diabetes and metabolism in 233 sources
Corroboration rose to 233 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside liver and gallbladder in 128 sources
Corroboration rose to 128 documents
2026-11-13 09:12 HNF1B appears alongside liver and gallbladder in 128 sources
Corroboration rose to 128 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside learning, speech and behaviour in 110 sources
Corroboration rose to 110 documents
2026-11-13 09:12 HNF1B appears alongside learning, speech and behaviour in 110 sources
Corroboration rose to 110 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside genital and müllerian development in 97 sources
Corroboration rose to 97 documents
2026-11-13 09:12 HNF1B appears alongside genital and müllerian development in 97 sources
Corroboration rose to 97 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside growth, gut and nutrition in 71 sources
Corroboration rose to 71 documents
2026-11-13 09:12 HNF1B appears alongside growth, gut and nutrition in 71 sources
Corroboration rose to 71 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside the heart in 63 sources
Corroboration rose to 63 documents
2026-11-13 09:12 HNF1B appears alongside the heart in 63 sources
Corroboration rose to 63 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside tumour risk in 58 sources
Corroboration rose to 58 documents
2026-11-13 09:12 HNF1B appears alongside tumour risk in 58 sources
Corroboration rose to 58 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside kidney and urinary tract in 53 sources
Corroboration rose to 53 documents
2026-11-13 09:12 LHX1 appears alongside kidney and urinary tract in 53 sources
Corroboration rose to 53 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside genital and müllerian development in 41 sources
Corroboration rose to 41 documents
2026-11-13 09:12 LHX1 appears alongside genital and müllerian development in 41 sources
Corroboration rose to 41 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside skeleton and limbs in 39 sources
Corroboration rose to 39 documents
2026-11-13 09:12 HNF1B appears alongside skeleton and limbs in 39 sources
Corroboration rose to 39 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside diabetes and metabolism in 37 sources
Corroboration rose to 37 documents
2026-11-13 09:12 LHX1 appears alongside diabetes and metabolism in 37 sources
Corroboration rose to 37 documents
insight strengthened
2026-11-13 09:12 HNF1B appears alongside eyes, ears and hearing in 35 sources
Corroboration rose to 35 documents
2026-11-13 09:12 HNF1B appears alongside eyes, ears and hearing in 35 sources
Corroboration rose to 35 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside learning, speech and behaviour in 35 sources
Corroboration rose to 35 documents
2026-11-13 09:12 LHX1 appears alongside learning, speech and behaviour in 35 sources
Corroboration rose to 35 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside liver and gallbladder in 26 sources
Corroboration rose to 26 documents
2026-11-13 09:12 LHX1 appears alongside liver and gallbladder in 26 sources
Corroboration rose to 26 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside the heart in 25 sources
Corroboration rose to 25 documents
2026-11-13 09:12 LHX1 appears alongside the heart in 25 sources
Corroboration rose to 25 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside skeleton and limbs in 21 sources
Corroboration rose to 21 documents
2026-11-13 09:12 LHX1 appears alongside skeleton and limbs in 21 sources
Corroboration rose to 21 documents
insight strengthened
2026-11-13 09:12 ACACA appears alongside learning, speech and behaviour in 19 sources
Corroboration rose to 19 documents
2026-11-13 09:12 ACACA appears alongside learning, speech and behaviour in 19 sources
Corroboration rose to 19 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside growth, gut and nutrition in 17 sources
Corroboration rose to 17 documents
2026-11-13 09:12 LHX1 appears alongside growth, gut and nutrition in 17 sources
Corroboration rose to 17 documents
insight strengthened
2026-11-13 09:12 ACACA appears alongside liver and gallbladder in 17 sources
Corroboration rose to 17 documents
2026-11-13 09:12 ACACA appears alongside liver and gallbladder in 17 sources
Corroboration rose to 17 documents
insight strengthened
2026-11-13 09:12 LHX1 appears alongside eyes, ears and hearing in 11 sources
Corroboration rose to 11 documents
2026-11-13 09:12 LHX1 appears alongside eyes, ears and hearing in 11 sources
Corroboration rose to 11 documents
insight added
2026-11-13 09:12 ACACA appears alongside growth, gut and nutrition in 7 sources
Across the collected corpus, the gene ACACA co-occurs with growth, gut and nutrition in 7 independent documents (of 29 documents mentioning ACACA and 87 mentioning growth, gut and nutrition). Association strength 0.08.
2026-11-13 09:12 ACACA appears alongside growth, gut and nutrition in 7 sources
Across the collected corpus, the gene ACACA co-occurs with growth, gut and nutrition in 7 independent documents (of 29 documents mentioning ACACA and 87 mentioning growth, gut and nutrition). Association strength 0.08.
insight strengthened
2026-11-13 09:12 PIGW appears alongside eyes, ears and hearing in 6 sources
Corroboration rose to 6 documents
2026-11-13 09:12 PIGW appears alongside eyes, ears and hearing in 6 sources
Corroboration rose to 6 documents
insight added
2026-11-13 09:12 ACACA appears alongside eyes, ears and hearing in 5 sources
Across the collected corpus, the gene ACACA co-occurs with eyes, ears and hearing in 5 independent documents (of 29 documents mentioning ACACA and 57 mentioning eyes, ears and hearing). Association strength 0.09.
2026-11-13 09:12 ACACA appears alongside eyes, ears and hearing in 5 sources
Across the collected corpus, the gene ACACA co-occurs with eyes, ears and hearing in 5 independent documents (of 29 documents mentioning ACACA and 57 mentioning eyes, ears and hearing). Association strength 0.09.
insight added
2026-11-13 09:12 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 09:12 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-13 09:12 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 09:12 New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 09:12 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 09:12 New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
insight added
2026-11-13 09:12 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 09:12 New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
insight added
2026-11-13 09:12 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 09:12 New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
insight added
2026-11-13 09:12 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 09:12 New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
insight added
2026-11-13 09:12 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 09:12 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-13 09:12 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 09:12 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-13 09:12 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 09:12 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-13 09:12 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 09:12 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-13 09:12 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 09:12 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-13 09:12 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 09:12 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-13 09:12 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 09:12 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-13 09:12 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 09:12 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-13 09:12 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 09:12 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-13 09:12 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 09:12 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-13 09:12 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 09:12 New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
insight added
2026-11-13 09:12 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 09:12 New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
insight added
2026-11-13 09:12 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 09:12 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-13 09:12 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 09:12 New observation reported: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
insight added
2026-11-13 09:12 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 09:12 New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 09:12 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 09:12 New observation reported: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
insight added
2026-11-13 09:12 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 09:12 New observation reported: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
insight added
2026-11-13 09:12 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 09:12 New observation reported: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
insight added
2026-11-13 09:12 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 09:12 New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
insight added
2026-11-13 09:12 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 09:12 New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
insight added
2026-11-13 09:12 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 09:12 New observation reported: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
insight added
2026-11-13 09:12 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 09:12 New observation reported: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
insight added
2026-11-13 09:12 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 09:12 New observation reported: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
insight added
2026-11-13 09:12 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 09:12 New observation reported: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
insight added
2026-11-13 09:12 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 09:12 New observation reported: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
insight added
2026-11-13 09:12 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 09:12 New observation reported: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
insight added
2026-11-13 09:12 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 09:12 New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
insight added
2026-11-13 09:12 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 09:12 New observation reported: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
insight added
2026-11-13 09:12 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 09:12 New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
insight added
2026-11-13 09:12 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 09:12 New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
insight added
2026-11-13 09:12 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 09:12 New observation reported: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
insight added
2026-11-13 09:12 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 09:12 New observation reported: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
insight added
2026-11-13 09:12 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 09:12 New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
insight added
2026-11-13 09:12 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 09:12 New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
insight added
2026-11-13 09:12 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 09:12 New observation reported: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
insight added
2026-11-13 09:12 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 09:12 New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
insight added
2026-11-13 09:12 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 09:12 New observation reported: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
insight added
2026-11-13 09:12 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 09:12 New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
insight added
2026-11-13 09:12 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 09:12 New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
insight added
2026-11-13 09:12 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 09:12 New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
insight added
2026-11-13 09:12 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 09:12 New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
insight added
2026-11-13 09:12 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 09:12 New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
insight added
2026-11-13 09:12 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 09:12 New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
insight added
2026-11-13 09:12 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 09:12 New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
insight added
2026-11-13 09:12 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 09:12 New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
insight added
2026-11-13 09:12 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 09:12 New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
insight added
2026-11-13 09:12 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 09:12 New observation reported: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
insight added
2026-11-13 09:12 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 09:12 New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
insight added
2026-11-13 09:12 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 09:12 New observation reported: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
insight added
2026-11-13 09:12 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 09:12 New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
insight added
2026-11-13 09:12 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 09:12 New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
insight added
2026-11-13 09:12 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 09:12 New observation reported: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
insight added
2026-11-13 09:12 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 09:12 New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
insight added
2026-11-13 09:12 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 09:12 New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
insight added
2026-11-13 09:12 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 09:12 New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
insight added
2026-11-13 09:12 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 09:12 New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
insight added
2026-11-13 09:12 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 09:12 New observation reported: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
insight added
2026-11-13 09:12 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 09:12 New observation reported: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
insight added
2026-11-13 09:12 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 09:12 New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
insight added
2026-11-13 09:12 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 09:12 New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
insight added
2026-11-13 09:12 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 09:12 New observation reported: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
insight added
2026-11-13 09:12 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 09:12 New observation reported: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
insight added
2026-11-13 09:12 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 09:12 New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
insight added
2026-11-13 09:12 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 09:12 New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
insight added
2026-11-13 09:12 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 09:12 New observation reported: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
insight added
2026-11-13 09:12 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 09:12 New observation reported: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
insight added
2026-11-13 09:12 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 09:12 New observation reported: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
insight added
2026-11-13 09:12 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 09:12 New observation reported: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
insight added
2026-11-13 09:12 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 09:12 New observation reported: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
insight added
2026-11-13 09:12 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 09:12 New observation reported: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
insight added
2026-11-13 09:12 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 09:12 New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
insight added
2026-11-13 09:12 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 09:12 New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
insight added
2026-11-13 09:12 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 09:12 New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
insight added
2026-11-13 09:12 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 09:12 New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
insight added
2026-11-13 09:12 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 09:12 New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
insight added
2026-11-13 09:12 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 09:12 New observation reported: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
insight added
2026-11-13 09:12 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 09:12 New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
insight added
2026-11-13 09:12 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 09:12 New observation reported: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
insight added
2026-11-13 09:12 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 09:12 New observation reported: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
insight added
2026-11-13 09:12 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 09:12 New observation reported: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
insight added
2026-11-13 09:12 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 09:12 New observation reported: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
insight added
2026-11-13 09:12 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 09:12 New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
insight added
2026-11-13 09:12 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 09:12 New observation reported: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
insight added
2026-11-13 09:12 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 09:12 New observation reported: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
insight added
2026-11-13 09:12 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 09:12 New observation reported: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
insight added
2026-11-13 09:12 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 09:12 New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
insight added
2026-11-13 09:12 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 09:12 New observation reported: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
insight added
2026-11-13 09:12 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 09:12 New observation reported: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
insight added
2026-11-13 09:12 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 09:12 New observation reported: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
insight added
2026-11-13 09:12 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 09:12 New observation reported: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
insight added
2026-11-13 09:12 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 09:12 New observation reported: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 09:12 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 09:12 New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
insight added
2026-11-13 09:12 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 09:12 New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
insight added
2026-11-13 09:12 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 09:12 New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
insight added
2026-11-13 09:12 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 09:12 New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
insight added
2026-11-13 09:12 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 09:12 New observation reported: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
insight added
2026-11-13 09:12 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 09:12 New observation reported: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
insight added
2026-11-13 09:12 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 09:12 New observation reported: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
insight added
2026-11-13 09:12 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 09:12 New observation reported: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
insight added
2026-11-13 09:12 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 09:12 New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
insight added
2026-11-13 09:12 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 09:12 New observation reported: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
insight added
2026-11-13 09:12 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 09:12 New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
insight added
2026-11-13 09:12 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 09:12 New observation reported: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
insight added
2026-11-13 09:12 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 09:12 New observation reported: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
insight added
2026-11-13 09:12 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 09:12 New observation reported: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
insight added
2026-11-13 09:12 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 09:12 New observation reported: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
insight added
2026-11-13 09:12 Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25
A source reports “72.0%” in the context of kidney: “Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25.8%), and CAKUT (19.2%).”
2026-11-13 09:12 Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25
A source reports “72.0%” in the context of kidney: “Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25.8%), and CAKUT (19.2%).”
insight added
2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 C
A source reports “147 Cases” in the context of kidney: “Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China...
2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 C
A source reports “147 Cases” in the context of kidney: “Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China...
insight added
2026-11-13 09:12 Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney a
A source reports “95.0%” in the context of kidney: “Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%.”
2026-11-13 09:12 Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney a
A source reports “95.0%” in the context of kidney: “Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%.”
insight added
2026-11-13 09:12 Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available me
A source reports “25.0%” in the context of kidney: “Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements.”
2026-11-13 09:12 Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available me
A source reports “25.0%” in the context of kidney: “Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements.”
insight added
2026-11-13 09:12 HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal m
A source reports “2%” in the context of kidney: “HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal magnesium loss.”
2026-11-13 09:12 HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal m
A source reports “2%” in the context of kidney: “HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal magnesium loss.”
insight added
2026-11-13 09:12 Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence v
A source reports “7.4%” in the context of diabetes metabolic: “Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence variant or 17q12del.”
2026-11-13 09:12 Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence v
A source reports “7.4%” in the context of diabetes metabolic: “Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence variant or 17q12del.”
insight added
2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort
A source reports “79%” in the context of kidney: “Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts...
2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort
A source reports “79%” in the context of kidney: “Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts...
insight added
2026-11-13 09:12 A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 1
A source reports “54%” in the context of kidney: “A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%; P = 0.008).”
2026-11-13 09:12 A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 1
A source reports “54%” in the context of kidney: “A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%; P = 0.008).”
insight added
2026-11-13 09:12 Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012
A source reports “6.3%” in the context of diabetes metabolic: “Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012.”
2026-11-13 09:12 Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012
A source reports “6.3%” in the context of diabetes metabolic: “Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012.”
insight added
2026-11-13 09:12 First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mel
A source reports “2 cases” in the context of diabetes metabolic: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the...
2026-11-13 09:12 First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mel
A source reports “2 cases” in the context of diabetes metabolic: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the...
insight added
2026-11-13 09:12 For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterior
A source reports “35 individuals” in the context of diabetes metabolic: “For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration.”
2026-11-13 09:12 For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterior
A source reports “35 individuals” in the context of diabetes metabolic: “For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration.”
insight added
2026-11-13 09:12 A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than i
A source reports “18 individuals” in the context of diabetes metabolic: “A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes.”
2026-11-13 09:12 A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than i
A source reports “18 individuals” in the context of diabetes metabolic: “A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes.”
insight added
2026-11-13 09:12 Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lower
A source reports “175 individuals” in the context of diabetes metabolic: “Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lowering therapy (175...
2026-11-13 09:12 Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lower
A source reports “175 individuals” in the context of diabetes metabolic: “Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lowering therapy (175...
insight added
2026-11-13 09:12 A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after
A source reports “11.7%” in the context of diabetes metabolic: “A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after high-carbohydrate diet if the...
2026-11-13 09:12 A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after
A source reports “11.7%” in the context of diabetes metabolic: “A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after high-carbohydrate diet if the...
insight added
2026-11-13 09:12 A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals)
A source reports “76 individuals” in the context of diabetes metabolic: “A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals) 25 - 29 , and almost...
2026-11-13 09:12 A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals)
A source reports “76 individuals” in the context of diabetes metabolic: “A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals) 25 - 29 , and almost...
insight added
2026-11-13 09:12 While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabet
A source reports “16 individuals” in the context of diabetes metabolic: “While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabetes data that could be...
2026-11-13 09:12 While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabet
A source reports “16 individuals” in the context of diabetes metabolic: “While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabetes data that could be...
insight added
2026-11-13 09:12 The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a wors
A source reports “0.8%” in the context of diabetes metabolic: “The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a worsening of HbA1c by 3.2%.”
2026-11-13 09:12 The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a wors
A source reports “0.8%” in the context of diabetes metabolic: “The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a worsening of HbA1c by 3.2%.”
insight added
2026-11-13 09:12 The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD
A source reports “293 cases” in the context of diabetes metabolic: “The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD.”
2026-11-13 09:12 The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD
A source reports “293 cases” in the context of diabetes metabolic: “The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD.”
insight added
2026-11-13 09:12 One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] dur
A source reports “29 of 51” in the context of diabetes metabolic: “One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] duration of 0.75 [0-5.25] years...
2026-11-13 09:12 One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] dur
A source reports “29 of 51” in the context of diabetes metabolic: “One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] duration of 0.75 [0-5.25] years...
insight added
2026-11-13 09:12 After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five c
A source reports “16 cases” in the context of diabetes metabolic: “After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five case series reporting on 16...
2026-11-13 09:12 After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five c
A source reports “16 cases” in the context of diabetes metabolic: “After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five case series reporting on 16...
insight added
2026-11-13 09:12 Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the m
A source reports “72 patients” in the context of diabetes metabolic: “Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the median follow-up time of 1...
2026-11-13 09:12 Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the m
A source reports “72 patients” in the context of diabetes metabolic: “Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the median follow-up time of 1...
insight added
2026-11-13 09:12 Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency
A source reports “24%” in the context of diabetes metabolic: “Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency in 24% ( n = 17), a decrease in...
2026-11-13 09:12 Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency
A source reports “24%” in the context of diabetes metabolic: “Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency in 24% ( n = 17), a decrease in...
insight added
2026-11-13 09:12 Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy
A source reports “95 patients” in the context of diabetes metabolic: “Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy.”
2026-11-13 09:12 Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy
A source reports “95 patients” in the context of diabetes metabolic: “Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy.”
insight added
2026-11-13 09:12 Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients w
A source reports “29 of 95” in the context of diabetes metabolic: “Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients with a median pre-HbA1c of...
2026-11-13 09:12 Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients w
A source reports “29 of 95” in the context of diabetes metabolic: “Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients with a median pre-HbA1c of...
insight added
2026-11-13 09:12 Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68
A source reports “16 of 89” in the context of diabetes metabolic: “Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68 (0.42-1.8) IU/kg/day prior to...
2026-11-13 09:12 Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68
A source reports “16 of 89” in the context of diabetes metabolic: “Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68 (0.42-1.8) IU/kg/day prior to...
insight added
2026-11-13 09:12 His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L
A source reports “17.3%” in the context of diabetes metabolic: “His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L.”
2026-11-13 09:12 His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L
A source reports “17.3%” in the context of diabetes metabolic: “His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L.”
insight added
2026-11-13 09:12 Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pu
A source reports “41 cases” in the context of general: “Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pubmed.”
2026-11-13 09:12 Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pu
A source reports “41 cases” in the context of general: “Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pubmed.”
insight added
2026-11-13 09:12 It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneo
A source reports “65%” in the context of hepatic: “It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneous HNF-1β gene mutations.”
2026-11-13 09:12 It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneo
A source reports “65%” in the context of hepatic: “It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneous HNF-1β gene mutations.”
insight added
2026-11-13 09:12 Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children w
A source reports “75.4%” in the context of general: “Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children with isolated ACC, respectively [ 25 ].”
2026-11-13 09:12 Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children w
A source reports “75.4%” in the context of general: “Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children with isolated ACC, respectively [ 25 ].”
insight added
2026-11-13 09:12 4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fastin
A source reports “4.2%” in the context of diabetes metabolic: “4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fasting blood glucose 87 mg/dL).”
2026-11-13 09:12 4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fastin
A source reports “4.2%” in the context of diabetes metabolic: “4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fasting blood glucose 87 mg/dL).”
insight added
2026-11-13 09:12 1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease
A source reports “15%” in the context of kidney: “1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease.”
2026-11-13 09:12 1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease
A source reports “15%” in the context of kidney: “1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease.”
insight added
2026-11-13 09:12 Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using t
A source reports “521 patients” in the context of kidney: “Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for...
2026-11-13 09:12 Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using t
A source reports “521 patients” in the context of kidney: “Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for...
insight added
2026-11-13 09:12 We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a la
A source reports “521 individuals” in the context of kidney: “We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a large multicenter European cohort of...
2026-11-13 09:12 We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a la
A source reports “521 individuals” in the context of kidney: “We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a large multicenter European cohort of...
insight added
2026-11-13 09:12 Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P <
A source reports “97%” in the context of kidney: “Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P < 0.001) and displayed a delayed progression to...
2026-11-13 09:12 Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P <
A source reports “97%” in the context of kidney: “Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P < 0.001) and displayed a delayed progression to...
insight added
2026-11-13 09:12 Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Suppleme
A source reports “29%” in the context of kidney: “Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Supplementary Table S2 ) and was significantly more...
2026-11-13 09:12 Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Suppleme
A source reports “29%” in the context of kidney: “Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Supplementary Table S2 ) and was significantly more...
insight added
2026-11-13 09:12 Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did
A source reports “12%” in the context of diabetes metabolic: “Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did not correlate with a specific...
2026-11-13 09:12 Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did
A source reports “12%” in the context of diabetes metabolic: “Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did not correlate with a specific...
insight added
2026-11-13 09:12 In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67%
A source reports “67%” in the context of general: “In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67% in the current study versus 56% to 59% in...
2026-11-13 09:12 In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67%
A source reports “67%” in the context of general: “In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67% in the current study versus 56% to 59% in...
insight added
2026-11-13 09:12 (b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patient
A source reports “62 patients” in the context of kidney: “(b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patients with the 17q12del.”
2026-11-13 09:12 (b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patient
A source reports “62 patients” in the context of kidney: “(b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patients with the 17q12del.”
insight added
2026-11-13 09:12 This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level
A source reports “16.8%” in the context of kidney: “This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level of fasting venous blood glucose was 30.0...
2026-11-13 09:12 This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level
A source reports “16.8%” in the context of kidney: “This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level of fasting venous blood glucose was 30.0...
insight added
2026-11-13 09:12 Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK,
A source reports “94.6 %” in the context of kidney: “Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK, 28/37, 75.7 %) and multicystic dysplastic...
2026-11-13 09:12 Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK,
A source reports “94.6 %” in the context of kidney: “Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK, 28/37, 75.7 %) and multicystic dysplastic...
insight added
2026-11-13 09:12 We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, low
A source reports “57.1 %” in the context of general: “We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, lower than previously reported in the...
2026-11-13 09:12 We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, low
A source reports “57.1 %” in the context of general: “We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, lower than previously reported in the...
insight added
2026-11-13 09:12 Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been rep
A source reports “50 individuals” in the context of general: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were...
2026-11-13 09:12 Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been rep
A source reports “50 individuals” in the context of general: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were...
insight added
2026-11-13 09:12 In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36
A source reports “39.58 %” in the context of kidney: “In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36 ] indicated that HEK had a CMA diagnostic...
2026-11-13 09:12 In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36
A source reports “39.58 %” in the context of kidney: “In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36 ] indicated that HEK had a CMA diagnostic...
insight added
2026-11-13 09:12 2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), whil
A source reports “68.8 %” in the context of kidney: “2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), while it may result from various renal abnormalities.”
2026-11-13 09:12 2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), whil
A source reports “68.8 %” in the context of kidney: “2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), while it may result from various renal abnormalities.”
insight added
2026-11-13 09:12 Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabete
A source reports “66%” in the context of diabetes metabolic: “Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabetes diagnosis is 16 years old.”
2026-11-13 09:12 Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabete
A source reports “66%” in the context of diabetes metabolic: “Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabetes diagnosis is 16 years old.”
insight added
2026-11-13 09:12 Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [
A source reports “72%” in the context of kidney: “Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [ 21 ].”
2026-11-13 09:12 Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [
A source reports “72%” in the context of kidney: “Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [ 21 ].”
insight added
2026-11-13 09:12 Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ]
A source reports “62%” in the context of kidney: “Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ].”
2026-11-13 09:12 Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ]
A source reports “62%” in the context of kidney: “Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ].”
insight added
2026-11-13 09:12 As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal s
A source reports “61%” in the context of kidney: “As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal symptom listed in the figure.”
2026-11-13 09:12 As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal s
A source reports “61%” in the context of kidney: “As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal symptom listed in the figure.”
insight added
2026-11-13 09:12 HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 )
A source reports “63%” in the context of general: “HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 ).”
2026-11-13 09:12 HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 )
A source reports “63%” in the context of general: “HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 ).”
insight added
2026-11-13 09:12 ( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of
A source reports “21%” in the context of general: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the...
2026-11-13 09:12 ( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of
A source reports “21%” in the context of general: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the...
insight added
2026-11-13 09:12 ( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities h
A source reports “86 patients” in the context of neurodevelopment: “( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities had developed autism, growth...
2026-11-13 09:12 ( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities h
A source reports “86 patients” in the context of neurodevelopment: “( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities had developed autism, growth...
insight added
2026-11-13 09:12 Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 wo
A source reports “18%” in the context of kidney: “Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.”
2026-11-13 09:12 Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 wo
A source reports “18%” in the context of kidney: “Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.”
insight added
2026-11-13 09:12 To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study invol
A source reports “265 individuals” in the context of cancer: “To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with...
2026-11-13 09:12 To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study invol
A source reports “265 individuals” in the context of cancer: “To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with...
insight added
2026-11-13 09:12 In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnes
A source reports “24 patients” in the context of kidney: “In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as...
2026-11-13 09:12 In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnes
A source reports “24 patients” in the context of kidney: “In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as...
insight added
2026-11-13 09:12 Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver te
A source reports “27 patients” in the context of diabetes metabolic: “Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse...
2026-11-13 09:12 Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver te
A source reports “27 patients” in the context of diabetes metabolic: “Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse...
insight added
2026-11-13 09:12 We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteri
A source reports “461 patients” in the context of diabetes metabolic: “We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset...
2026-11-13 09:12 We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteri
A source reports “461 patients” in the context of diabetes metabolic: “We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset...
insight added
2026-11-13 09:12 A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease a
A source reports “70 %” in the context of kidney: “A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease and hyperuricemia.Key words: HNF1B - MODY -...
2026-11-13 09:12 A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease a
A source reports “70 %” in the context of kidney: “A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease and hyperuricemia.Key words: HNF1B - MODY -...
insight added
2026-11-13 09:12 We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads
A source reports “289 cases” in the context of general: “We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls.”
2026-11-13 09:12 We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads
A source reports “289 cases” in the context of general: “We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls.”
insight added
2026-11-13 09:12 In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were i
A source reports “4.17%” in the context of general: “In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations.”
2026-11-13 09:12 In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were i
A source reports “4.17%” in the context of general: “In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations.”
insight added
2026-11-13 09:12 Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine e
A source reports “7 cases” in the context of kidney: “Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary...
2026-11-13 09:12 Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine e
A source reports “7 cases” in the context of kidney: “Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary...
insight added
2026-11-13 09:12 All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechog
A source reports “4 patients” in the context of kidney: “All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys.”
2026-11-13 09:12 All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechog
A source reports “4 patients” in the context of kidney: “All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys.”
insight strengthened
2026-11-13 09:12 Surveillance discussed in 303 sources
Corroboration rose to 303 documents
2026-11-13 09:12 Surveillance discussed in 303 sources
Corroboration rose to 303 documents
insight strengthened
2026-11-13 09:12 Counseling discussed in 205 sources
Corroboration rose to 205 documents
2026-11-13 09:12 Counseling discussed in 205 sources
Corroboration rose to 205 documents
insight strengthened
2026-11-13 09:12 Research discussed in 141 sources
Corroboration rose to 141 documents
2026-11-13 09:12 Research discussed in 141 sources
Corroboration rose to 141 documents
insight strengthened
2026-11-13 09:12 Therapy discussed in 136 sources
Corroboration rose to 136 documents
2026-11-13 09:12 Therapy discussed in 136 sources
Corroboration rose to 136 documents
insight added
2026-11-13 09:12 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 09:12 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
insight added
2026-11-13 09:12 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 09:12 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
insight added
2026-11-13 09:12 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 09:12 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
insight added
2026-11-13 09:12 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 09:12 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
insight added
2026-11-13 09:12 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 09:12 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
insight added
2026-11-13 09:12 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 09:12 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
insight added
2026-11-13 09:12 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 09:12 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
insight added
2026-11-13 09:12 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 09:12 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-13 09:12 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 09:12 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-13 09:12 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 09:12 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-13 09:12 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 09:12 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
insight added
2026-11-13 09:12 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a...
2026-11-13 09:12 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a...
insight added
2026-11-13 09:12 Persistent tic disorders are associated with 17q12 duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
2026-11-13 09:12 Persistent tic disorders are associated with 17q12 duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
insight added
2026-11-13 09:12 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados Objetivo: O objetivo deste estudo é integrar evidências clínicas sobre ceratocone e doença renal...
2026-11-13 09:12 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados Objetivo: O objetivo deste estudo é integrar evidências clínicas sobre ceratocone e doença renal...
insight added
2026-11-13 09:12 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the...
2026-11-13 09:12 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the...
insight added
2026-11-13 09:12 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.
2026-11-13 09:12 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.
document added
2026-11-13 08:57 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
New article from openalex (relevance 0.866)
2026-11-13 08:57 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
New article from openalex (relevance 0.866)
document added
2026-11-13 08:57 Persistent tic disorders are associated with 17q12 duplications
New review from openalex (relevance 1.0)
2026-11-13 08:57 Persistent tic disorders are associated with 17q12 duplications
New review from openalex (relevance 1.0)
document added
2026-11-13 08:57 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
New article from openalex (relevance 0.866)
2026-11-13 08:57 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
New article from openalex (relevance 0.866)
document added
2026-11-13 08:57 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
New article from openalex (relevance 1.0)
2026-11-13 08:57 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
New guideline from openalex (relevance 0.759)
2026-11-13 08:57 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
New guideline from openalex (relevance 0.759)
document added
2026-11-13 08:57 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
New abstract from openalex (relevance 0.564)
2026-11-13 08:57 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
New abstract from openalex (relevance 0.564)
document added
2026-11-13 08:57 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
New case_report from openalex (relevance 0.564)
2026-11-13 08:57 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
New case_report from openalex (relevance 0.564)
document added
2026-11-13 08:57 Clinical impact of genetic testing in inherited kidney diseases
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 Clinical impact of genetic testing in inherited kidney diseases
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
New article from openalex (relevance 1.0)
2026-11-13 08:57 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
New article from openalex (relevance 1.0)
2026-11-13 08:57 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
New article from openalex (relevance 0.739)
2026-11-13 08:57 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
New article from openalex (relevance 0.739)
document added
2026-11-13 08:57 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
New article from openalex (relevance 1.0)
2026-11-13 08:57 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
New article from openalex (relevance 1.0)
2026-11-13 08:57 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
New article from openalex (relevance 1.0)
2026-11-13 08:57 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
New article from openalex (relevance 1.0)
2026-11-13 08:57 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
New article from openalex (relevance 1.0)
2026-11-13 08:57 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
New article from openalex (relevance 1.0)
2026-11-13 08:57 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
New abstract from openalex (relevance 1.0)
2026-11-13 08:57 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
New abstract from openalex (relevance 1.0)
document added
2026-11-13 08:57 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
New article from openalex (relevance 1.0)
2026-11-13 08:57 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
New guideline from openalex (relevance 1.0)
2026-11-13 08:57 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
New guideline from openalex (relevance 1.0)
document added
2026-11-13 08:57 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
New article from openalex (relevance 1.0)
2026-11-13 08:57 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
New article from openalex (relevance 1.0)
2026-11-13 08:57 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet. Gynecol. Reprod. B
New article from openalex (relevance 1.0)
2026-11-13 08:57 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet. Gynecol. Reprod. B
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype–Phenotype Correlations
New article from openalex (relevance 1.0)
2026-11-13 08:57 The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype–Phenotype Correlations
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
New article from openalex (relevance 1.0)
2026-11-13 08:57 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children
New article from openalex (relevance 1.0)
2026-11-13 08:57 From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Possibilities of early diagnostics of chromosome 17q12 deletion syndrome in newborns with cystic dysplasia of the kidney
New article from openalex (relevance 1.0)
2026-11-13 08:57 Possibilities of early diagnostics of chromosome 17q12 deletion syndrome in newborns with cystic dysplasia of the kidney
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 17q12 Recurrent Deletion Syndrome in Childhood
New article from openalex (relevance 1.0)
2026-11-13 08:57 17q12 Recurrent Deletion Syndrome in Childhood
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China
New article from openalex (relevance 1.0)
2026-11-13 08:57 Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China
New article from openalex (relevance 1.0)
document added
2026-11-13 08:57 A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:57 Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic potentials
New abstract from openalex (relevance 0.486)
2026-11-13 08:57 Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic potentials
New abstract from openalex (relevance 0.486)
document added
2026-11-13 08:57 HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report
New case_report from openalex (relevance 0.647)
2026-11-13 08:57 HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report
New case_report from openalex (relevance 0.647)
document added
2026-11-13 08:57 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5
New case_report from openalex (relevance 1.0)
2026-11-13 08:57 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5
New case_report from openalex (relevance 1.0)
document added
2026-11-13 08:54 Precision treatment of beta-cell monogenic diabetes: a systematic review
New article from pmc (relevance 1.0)
2026-11-13 08:54 Precision treatment of beta-cell monogenic diabetes: a systematic review
New article from pmc (relevance 1.0)
document added
2026-11-13 08:54 Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
New review from pmc (relevance 0.45)
2026-11-13 08:54 Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
New review from pmc (relevance 0.45)
document added
2026-11-13 08:54 A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
New case_report from pmc (relevance 1.0)
2026-11-13 08:54 A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
New case_report from pmc (relevance 1.0)
document added
2026-11-13 08:53 Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
New article from pmc (relevance 1.0)
2026-11-13 08:53 Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
New article from pmc (relevance 1.0)
document added
2026-11-13 08:53 A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
New case_report from pmc (relevance 1.0)
2026-11-13 08:53 A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
New case_report from pmc (relevance 1.0)
document added
2026-11-13 08:53 Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
New article from pmc (relevance 1.0)
2026-11-13 08:53 Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
New article from pmc (relevance 1.0)
document added
2026-11-13 08:53 MRI in the prenatal genetic diagnosis and intrauterine treatment of fetal congenital cystic adenoma of the lung
New article from pmc (relevance 0.45)
2026-11-13 08:53 MRI in the prenatal genetic diagnosis and intrauterine treatment of fetal congenital cystic adenoma of the lung
New article from pmc (relevance 0.45)
document added
2026-11-13 08:52 HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report
New case_report from pmc (relevance 1.0)
2026-11-13 08:52 HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report
New case_report from pmc (relevance 1.0)
document added
2026-11-13 08:52 Impact and characterization of serial structural variations across humans and great apes
New article from pmc (relevance 0.45)
2026-11-13 08:52 Impact and characterization of serial structural variations across humans and great apes
New article from pmc (relevance 0.45)
document added
2026-11-13 08:52 Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review
New article from pmc (relevance 1.0)
2026-11-13 08:52 Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review
New article from pmc (relevance 1.0)
document added
2026-11-13 08:52 青少年起病的成人型糖尿病3型合并5型1例并文献复习
New article from pmc (relevance 1.0)
2026-11-13 08:52 青少年起病的成人型糖尿病3型合并5型1例并文献复习
New article from pmc (relevance 1.0)
document added
2026-11-13 08:51 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
New case_report from pmc (relevance 1.0)
2026-11-13 08:51 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
New case_report from pmc (relevance 1.0)
document added
2026-11-13 08:51 The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana
New guideline from pmc (relevance 0.45)
2026-11-13 08:51 The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana
New guideline from pmc (relevance 0.45)
document added
2026-11-13 08:50 Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes
New article from pmc (relevance 0.45)
2026-11-13 08:50 Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes
New article from pmc (relevance 0.45)
document added
2026-11-13 08:50 HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis
New article from pmc (relevance 1.0)
2026-11-13 08:50 HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis
New article from pmc (relevance 1.0)
document added
2026-11-13 08:49 Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China
New article from pmc (relevance 0.45)
2026-11-13 08:49 Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China
New article from pmc (relevance 0.45)
document added
2026-11-13 08:49 A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
New article from pmc (relevance 1.0)
2026-11-13 08:49 A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
New article from pmc (relevance 1.0)
document added
2026-11-13 08:16 Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.
New article from pubmed (relevance 0.477)
2026-11-13 08:16 Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.
New article from pubmed (relevance 0.477)
document added
2026-11-13 08:16 Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
New article from pubmed (relevance 1.0)
2026-11-13 08:16 Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:15 Function of HNF1 in the pathogenesis of diabetes.
New article from pubmed (relevance 0.963)
2026-11-13 08:15 Function of HNF1 in the pathogenesis of diabetes.
New article from pubmed (relevance 0.963)
document added
2026-11-13 08:15 Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.
New article from pubmed (relevance 1.0)
2026-11-13 08:15 Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:15 Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness.
New article from pubmed (relevance 0.564)
2026-11-13 08:15 Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness.
New article from pubmed (relevance 0.564)
document added
2026-11-13 08:15 HNF1B-related diabetes triggered by renal transplantation.
New article from pubmed (relevance 0.981)
2026-11-13 08:15 HNF1B-related diabetes triggered by renal transplantation.
New article from pubmed (relevance 0.981)
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2026-11-13 08:15 Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
New article from pubmed (relevance 1.0)
2026-11-13 08:15 Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:15 A mitotic transcriptional switch in polycystic kidney disease.
New article from pubmed (relevance 0.672)
2026-11-13 08:15 A mitotic transcriptional switch in polycystic kidney disease.
New article from pubmed (relevance 0.672)
document added
2026-11-13 08:15 HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
New article from pubmed (relevance 1.0)
2026-11-13 08:15 HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:15 Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.
New article from pubmed (relevance 0.827)
2026-11-13 08:15 Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.
New article from pubmed (relevance 0.827)
document added
2026-11-13 08:15 Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
New article from pubmed (relevance 1.0)
2026-11-13 08:15 Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 The Hepatocyte nuclear factor-1 alpha ( HNF1A) gene is associated with fatness and loin muscle area in the pig.
New article from pubmed (relevance 0.887)
2026-11-13 08:14 The Hepatocyte nuclear factor-1 alpha ( HNF1A) gene is associated with fatness and loin muscle area in the pig.
New article from pubmed (relevance 0.887)
document added
2026-11-13 08:14 Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
New article from pubmed (relevance 0.853)
2026-11-13 08:14 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
New article from pubmed (relevance 0.853)
document added
2026-11-13 08:14 Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Large-scale fine mapping of the HNF1B locus and prostate cancer risk.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Large-scale fine mapping of the HNF1B locus and prostate cancer risk.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
New article from pubmed (relevance 0.887)
2026-11-13 08:14 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
New article from pubmed (relevance 0.887)
document added
2026-11-13 08:14 HNF1B polymorphism associated with development of prostate cancer in Korean patients.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 HNF1B polymorphism associated with development of prostate cancer in Korean patients.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 HNF1B deficiency causes ciliary defects in human cholangiocytes.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 HNF1B deficiency causes ciliary defects in human cholangiocytes.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 HNF1B deletions in patients with young-onset diabetes but no known renal disease.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 HNF1B deletions in patients with young-onset diabetes but no known renal disease.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 [Liver, kidneys and diabetes: three faces of HNF1B gene deficit].
New article from pubmed (relevance 1.0)
2026-11-13 08:14 [Liver, kidneys and diabetes: three faces of HNF1B gene deficit].
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 [HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].
New article from pubmed (relevance 1.0)
2026-11-13 08:14 [HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:14 Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.
New article from pubmed (relevance 1.0)
2026-11-13 08:14 Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.
New review from pubmed (relevance 1.0)
2026-11-13 08:13 Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.
New review from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Hepatocyte nuclear factor 1 beta induces transformation and epithelial-to-mesenchymal transition.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Hepatocyte nuclear factor 1 beta induces transformation and epithelial-to-mesenchymal transition.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
New article from pubmed (relevance 0.833)
2026-11-13 08:13 Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
New article from pubmed (relevance 0.833)
document added
2026-11-13 08:13 Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.
New article from pubmed (relevance 0.739)
2026-11-13 08:13 Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.
New article from pubmed (relevance 0.739)
document added
2026-11-13 08:13 Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.
New case_report from pubmed (relevance 0.847)
2026-11-13 08:13 Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.
New case_report from pubmed (relevance 0.847)
document added
2026-11-13 08:13 MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 [Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].
New article from pubmed (relevance 1.0)
2026-11-13 08:13 [Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Choledochal Cyst with 17q12 Chromosomal Duplication.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Choledochal Cyst with 17q12 Chromosomal Duplication.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
New review from pubmed (relevance 1.0)
2026-11-13 08:13 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
New review from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
New article from pubmed (relevance 0.652)
2026-11-13 08:13 Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
New article from pubmed (relevance 0.652)
document added
2026-11-13 08:13 De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:13 Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
New article from pubmed (relevance 1.0)
2026-11-13 08:13 Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:12 Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.
New article from pubmed (relevance 0.57)
2026-11-13 08:12 Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.
New article from pubmed (relevance 0.57)
document added
2026-11-13 08:12 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
New case_report from pubmed (relevance 0.739)
2026-11-13 08:12 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
New case_report from pubmed (relevance 0.739)
document added
2026-11-13 08:12 Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
New article from pubmed (relevance 0.739)
2026-11-13 08:12 Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
New article from pubmed (relevance 0.739)
document added
2026-11-13 08:12 Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans.
New article from pubmed (relevance 1.0)
2026-11-13 08:12 Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:11 Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
New article from pubmed (relevance 1.0)
2026-11-13 08:11 Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:11 Pancreatic Ductal Deletion of Hnf1b Disrupts Exocrine Homeostasis, Leads to Pancreatitis, and Facilitates Tumorigenesis.
New article from pubmed (relevance 1.0)
2026-11-13 08:11 Pancreatic Ductal Deletion of Hnf1b Disrupts Exocrine Homeostasis, Leads to Pancreatitis, and Facilitates Tumorigenesis.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:11 School level of children carrying a HNF1B variant or a deletion.
New article from pubmed (relevance 1.0)
2026-11-13 08:11 School level of children carrying a HNF1B variant or a deletion.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:11 Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.
New case_report from pubmed (relevance 0.908)
2026-11-13 08:11 Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.
New case_report from pubmed (relevance 0.908)
document added
2026-11-13 08:11 Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
New article from pubmed (relevance 1.0)
2026-11-13 08:11 Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:11 Whole exome sequencing reveals novel candidate gene variants for MODY.
New article from pubmed (relevance 0.739)
2026-11-13 08:11 Whole exome sequencing reveals novel candidate gene variants for MODY.
New article from pubmed (relevance 0.739)
document added
2026-11-13 08:10 Pten and Dicer1 loss in the mouse uterus causes poorly differentiated endometrial adenocarcinoma.
New article from pubmed (relevance 0.564)
2026-11-13 08:10 Pten and Dicer1 loss in the mouse uterus causes poorly differentiated endometrial adenocarcinoma.
New article from pubmed (relevance 0.564)
document added
2026-11-13 08:10 Hepatocyte nuclear factor 1β suppresses canonical Wnt signaling through transcriptional repression of lymphoid enhancer-binding factor 1.
New article from pubmed (relevance 0.564)
2026-11-13 08:10 Hepatocyte nuclear factor 1β suppresses canonical Wnt signaling through transcriptional repression of lymphoid enhancer-binding factor 1.
New article from pubmed (relevance 0.564)
document added
2026-11-13 08:10 Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
New article from pubmed (relevance 1.0)
2026-11-13 08:10 Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:10 Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.
New article from pubmed (relevance 1.0)
2026-11-13 08:10 Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:10 Blood pressure in children with renal cysts and diabetes syndrome.
New guideline from pubmed (relevance 1.0)
2026-11-13 08:10 Blood pressure in children with renal cysts and diabetes syndrome.
New guideline from pubmed (relevance 1.0)
document added
2026-11-13 08:10 A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.
New article from pubmed (relevance 0.739)
2026-11-13 08:10 A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.
New article from pubmed (relevance 0.739)
document added
2026-11-13 08:10 Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.
New article from pubmed (relevance 0.847)
2026-11-13 08:10 Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.
New article from pubmed (relevance 0.847)
document added
2026-11-13 08:10 Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.
New article from pubmed (relevance 1.0)
2026-11-13 08:10 Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:09 MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore.
New article from pubmed (relevance 1.0)
2026-11-13 08:09 MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:09 The individual and global impact of copy-number variants on complex human traits.
New article from pubmed (relevance 1.0)
2026-11-13 08:09 The individual and global impact of copy-number variants on complex human traits.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:09 First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3 , FOXF1 / FOXC2 / FOXL1 , and HNF1B .
New article from pubmed (relevance 1.0)
2026-11-13 08:09 First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3 , FOXF1 / FOXC2 / FOXL1 , and HNF1B .
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:08 Loss of Arid1a and Pten in Pancreatic Ductal Cells Induces Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
New article from pubmed (relevance 0.564)
2026-11-13 08:08 Loss of Arid1a and Pten in Pancreatic Ductal Cells Induces Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
New article from pubmed (relevance 0.564)
document added
2026-11-13 08:08 HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes.
New case_report from pubmed (relevance 1.0)
2026-11-13 08:08 HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes.
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:08 The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
New case_report from pubmed (relevance 1.0)
2026-11-13 08:08 The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:08 Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
New article from pubmed (relevance 1.0)
2026-11-13 08:08 Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:08 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.
New review from pubmed (relevance 1.0)
2026-11-13 08:08 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.
New review from pubmed (relevance 1.0)
document added
2026-11-13 08:07 Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.
New article from pubmed (relevance 1.0)
2026-11-13 08:07 Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:07 Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG.
New case_report from pubmed (relevance 1.0)
2026-11-13 08:07 Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG.
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:07 Autism and duplication of 17q12q21.2 by array-CGH: a case report.
New case_report from pubmed (relevance 1.0)
2026-11-13 08:07 Autism and duplication of 17q12q21.2 by array-CGH: a case report.
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:07 New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
New case_report from pubmed (relevance 1.0)
2026-11-13 08:07 New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:07 Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
New case_report from pubmed (relevance 1.0)
2026-11-13 08:07 Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:06 Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).
New case_report from pubmed (relevance 1.0)
2026-11-13 08:06 Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:06 Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
New article from pubmed (relevance 1.0)
2026-11-13 08:06 Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:06 Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
New article from pubmed (relevance 1.0)
2026-11-13 08:06 Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:06 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
New article from pubmed (relevance 0.941)
2026-11-13 08:06 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
New article from pubmed (relevance 0.941)
document added
2026-11-13 08:06 Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.
New article from pubmed (relevance 1.0)
2026-11-13 08:06 Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:06 Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
New guideline from pubmed (relevance 1.0)
2026-11-13 08:06 Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
New guideline from pubmed (relevance 1.0)
document added
2026-11-13 08:05 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
New article from pubmed (relevance 0.941)
2026-11-13 08:05 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
New article from pubmed (relevance 0.941)
document added
2026-11-13 08:05 Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
New article from pubmed (relevance 1.0)
2026-11-13 08:05 Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:05 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .
New case_report from pubmed (relevance 1.0)
2026-11-13 08:05 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:05 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.
New article from pubmed (relevance 1.0)
2026-11-13 08:05 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:04 Loss of Brg1 and Pten in Pancreatic Ductal Cells Forms Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
New article from pubmed (relevance 0.564)
2026-11-13 08:04 Loss of Brg1 and Pten in Pancreatic Ductal Cells Forms Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
New article from pubmed (relevance 0.564)
document added
2026-11-13 08:04 Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
New article from pubmed (relevance 1.0)
2026-11-13 08:04 Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:04 Study of the ovarian function and gyneco-obstetrical profile of patients with an HNF1B abnormality.
New article from pubmed (relevance 1.0)
2026-11-13 08:04 Study of the ovarian function and gyneco-obstetrical profile of patients with an HNF1B abnormality.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:04 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.
New article from pubmed (relevance 1.0)
2026-11-13 08:04 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:04 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.
New article from pubmed (relevance 1.0)
2026-11-13 08:04 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:04 Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.
New article from pubmed (relevance 1.0)
2026-11-13 08:04 Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:04 The computational analysis of tumor cell sensitivity to supertarget deletion.
New article from pubmed (relevance 0.792)
2026-11-13 08:04 The computational analysis of tumor cell sensitivity to supertarget deletion.
New article from pubmed (relevance 0.792)
document added
2026-11-13 08:04 Dual-hit cystic kidneys: ADPKD with de novo HNF1B deletion.
New article from pubmed (relevance 0.745)
2026-11-13 08:04 Dual-hit cystic kidneys: ADPKD with de novo HNF1B deletion.
New article from pubmed (relevance 0.745)
document added
2026-11-13 08:03 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.
New case_report from pubmed (relevance 1.0)
2026-11-13 08:03 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.
New case_report from pubmed (relevance 1.0)
document added
2026-11-13 08:03 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.
New guideline from pubmed (relevance 1.0)
2026-11-13 08:03 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.
New guideline from pubmed (relevance 1.0)
document added
2026-11-13 08:03 Loss of Hnf1b in differentiated proximal tubule cells uncovers nephron segment plasticity.
New article from pubmed (relevance 1.0)
2026-11-13 08:03 Loss of Hnf1b in differentiated proximal tubule cells uncovers nephron segment plasticity.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:03 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder.
New article from pubmed (relevance 1.0)
2026-11-13 08:03 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder.
New article from pubmed (relevance 1.0)
document added
2026-11-13 08:02 The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.
New article from pubmed (relevance 1.0)
2026-11-13 08:02 The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.
New article from pubmed (relevance 1.0)
insight added
2026-11-13 00:54 ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability
Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the...
2026-11-13 00:54 ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability
Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the...
insight added
2026-11-13 00:54 Genetic Predisposition in Müllerian Malformations: A Case Report
Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component.
2026-11-13 00:54 Genetic Predisposition in Müllerian Malformations: A Case Report
Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component.
insight added
2026-11-13 00:54 Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
2026-11-13 00:54 Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
insight added
2026-11-13 00:54 17q12 Microdeletion Syndrome Initially Presenting with Tremor in Maturity-Onset Diabetes of the Young
To the Editor : A 12-y-old boy presented to the hospital with unexplained tremor of the upper limbs for a week.
2026-11-13 00:54 17q12 Microdeletion Syndrome Initially Presenting with Tremor in Maturity-Onset Diabetes of the Young
To the Editor : A 12-y-old boy presented to the hospital with unexplained tremor of the upper limbs for a week.
insight added
2026-11-13 00:54 Multi- and Transgenerational Histological and Transcriptomic Outcomes of Developmental TCDD Exposure in Zebrafish ( Danio rerio ) Ovary
can be found in Supplemental Table S4 . 2.2.2. F1 Generation The indirectly exposed F1 generation displayed six DEGs at the level of ≥1 absolute log 2 fold change and p < 0.
2026-11-13 00:54 Multi- and Transgenerational Histological and Transcriptomic Outcomes of Developmental TCDD Exposure in Zebrafish ( Danio rerio ) Ovary
can be found in Supplemental Table S4 . 2.2.2. F1 Generation The indirectly exposed F1 generation displayed six DEGs at the level of ≥1 absolute log 2 fold change and p < 0.
insight added
2026-11-13 00:54 A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene.
2026-11-13 00:54 A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene.
insight added
2026-11-13 00:54 Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or,...
2026-11-13 00:54 Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or,...
insight added
2026-11-13 00:54 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study
Background Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies.
2026-11-13 00:54 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study
Background Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies.
insight added
2026-11-13 00:54 Diabetes associated with HNF1B: beyond Occam’s razor—A case report
Introduction Monogenic diabetes is a rare cause of diabetes in the population, accounting for an estimated 1-5% of diabetes cases.
2026-11-13 00:54 Diabetes associated with HNF1B: beyond Occam’s razor—A case report
Introduction Monogenic diabetes is a rare cause of diabetes in the population, accounting for an estimated 1-5% of diabetes cases.
insight added
2026-11-13 00:54 Persistent Tic Disorders Are Associated With 17q12 Duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
2026-11-13 00:54 Persistent Tic Disorders Are Associated With 17q12 Duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
insight added
2026-11-13 00:54 Comparative Copy Number Variation Profiling of GL01, an Immortalized Non-small Cell Lung Cancer Cell Line Derived from a Filipino Patient, and A549 Lung Adenocarcinoma Cells
Background and Objectives Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease.
2026-11-13 00:54 Comparative Copy Number Variation Profiling of GL01, an Immortalized Non-small Cell Lung Cancer Cell Line Derived from a Filipino Patient, and A549 Lung Adenocarcinoma Cells
Background and Objectives Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease.
insight added
2026-11-13 00:54 Pediatric patient with maturity-onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis.
2026-11-13 00:54 Pediatric patient with maturity-onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis.
insight added
2026-11-13 00:54 Case Report: Unraveling complex genomic alterations in a case of chronic lymphocytic leukemia using optical genome mapping
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course.
2026-11-13 00:54 Case Report: Unraveling complex genomic alterations in a case of chronic lymphocytic leukemia using optical genome mapping
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course.
insight added
2026-11-13 00:54 Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis
Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have...
2026-11-13 00:54 Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis
Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have...
insight added
2026-11-13 00:54 Cognitive deterioration in patients undergoing hemodialysis: how variations in age influence the development of new mechanisms and treatment approaches?
The mechanisms of age-related differences and innovative intervention strategies for cognitive dysfunction in hemodialysis patients are crucial for enhancing patient outcomes.
2026-11-13 00:54 Cognitive deterioration in patients undergoing hemodialysis: how variations in age influence the development of new mechanisms and treatment approaches?
The mechanisms of age-related differences and innovative intervention strategies for cognitive dysfunction in hemodialysis patients are crucial for enhancing patient outcomes.
insight added
2026-11-13 00:54 Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases
Background There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic...
2026-11-13 00:54 Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases
Background There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic...
insight added
2026-11-13 00:54 HNF1B appears alongside kidney and urinary tract in 158 sources
Across the collected corpus, the gene HNF1B co-occurs with kidney and urinary tract in 158 independent documents (of 177 documents mentioning HNF1B and 241 mentioning kidney and urinary tract). Association strength 0.66.
2026-11-13 00:54 HNF1B appears alongside kidney and urinary tract in 158 sources
Across the collected corpus, the gene HNF1B co-occurs with kidney and urinary tract in 158 independent documents (of 177 documents mentioning HNF1B and 241 mentioning kidney and urinary tract). Association strength 0.66.
insight added
2026-11-13 00:54 HNF1B appears alongside diabetes and metabolism in 135 sources
Across the collected corpus, the gene HNF1B co-occurs with diabetes and metabolism in 135 independent documents (of 177 documents mentioning HNF1B and 197 mentioning diabetes and metabolism). Association strength 0.69.
2026-11-13 00:54 HNF1B appears alongside diabetes and metabolism in 135 sources
Across the collected corpus, the gene HNF1B co-occurs with diabetes and metabolism in 135 independent documents (of 177 documents mentioning HNF1B and 197 mentioning diabetes and metabolism). Association strength 0.69.
insight added
2026-11-13 00:54 HNF1B appears alongside learning, speech and behaviour in 78 sources
Across the collected corpus, the gene HNF1B co-occurs with learning, speech and behaviour in 78 independent documents (of 177 documents mentioning HNF1B and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 HNF1B appears alongside learning, speech and behaviour in 78 sources
Across the collected corpus, the gene HNF1B co-occurs with learning, speech and behaviour in 78 independent documents (of 177 documents mentioning HNF1B and 155 mentioning learning, speech and behaviour). Association...
insight added
2026-11-13 00:54 HNF1B appears alongside liver and gallbladder in 76 sources
Across the collected corpus, the gene HNF1B co-occurs with liver and gallbladder in 76 independent documents (of 177 documents mentioning HNF1B and 109 mentioning liver and gallbladder). Association strength 0.43.
2026-11-13 00:54 HNF1B appears alongside liver and gallbladder in 76 sources
Across the collected corpus, the gene HNF1B co-occurs with liver and gallbladder in 76 independent documents (of 177 documents mentioning HNF1B and 109 mentioning liver and gallbladder). Association strength 0.43.
insight added
2026-11-13 00:54 HNF1B appears alongside genital and müllerian development in 64 sources
Across the collected corpus, the gene HNF1B co-occurs with genital and müllerian development in 64 independent documents (of 177 documents mentioning HNF1B and 121 mentioning genital and müllerian development)....
2026-11-13 00:54 HNF1B appears alongside genital and müllerian development in 64 sources
Across the collected corpus, the gene HNF1B co-occurs with genital and müllerian development in 64 independent documents (of 177 documents mentioning HNF1B and 121 mentioning genital and müllerian development)....
insight added
2026-11-13 00:54 HNF1B appears alongside growth, gut and nutrition in 51 sources
Across the collected corpus, the gene HNF1B co-occurs with growth, gut and nutrition in 51 independent documents (of 177 documents mentioning HNF1B and 65 mentioning growth, gut and nutrition). Association strength 0.29.
2026-11-13 00:54 HNF1B appears alongside growth, gut and nutrition in 51 sources
Across the collected corpus, the gene HNF1B co-occurs with growth, gut and nutrition in 51 independent documents (of 177 documents mentioning HNF1B and 65 mentioning growth, gut and nutrition). Association strength 0.29.
insight added
2026-11-13 00:54 HNF1B appears alongside the heart in 45 sources
Across the collected corpus, the gene HNF1B co-occurs with the heart in 45 independent documents (of 177 documents mentioning HNF1B and 85 mentioning the heart). Association strength 0.25.
2026-11-13 00:54 HNF1B appears alongside the heart in 45 sources
Across the collected corpus, the gene HNF1B co-occurs with the heart in 45 independent documents (of 177 documents mentioning HNF1B and 85 mentioning the heart). Association strength 0.25.
insight added
2026-11-13 00:54 LHX1 appears alongside kidney and urinary tract in 40 sources
Across the collected corpus, the gene LHX1 co-occurs with kidney and urinary tract in 40 independent documents (of 45 documents mentioning LHX1 and 241 mentioning kidney and urinary tract). Association strength 0.17.
2026-11-13 00:54 LHX1 appears alongside kidney and urinary tract in 40 sources
Across the collected corpus, the gene LHX1 co-occurs with kidney and urinary tract in 40 independent documents (of 45 documents mentioning LHX1 and 241 mentioning kidney and urinary tract). Association strength 0.17.
insight added
2026-11-13 00:54 HNF1B appears alongside skeleton and limbs in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with skeleton and limbs in 30 independent documents (of 177 documents mentioning HNF1B and 55 mentioning skeleton and limbs). Association strength 0.17.
2026-11-13 00:54 HNF1B appears alongside skeleton and limbs in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with skeleton and limbs in 30 independent documents (of 177 documents mentioning HNF1B and 55 mentioning skeleton and limbs). Association strength 0.17.
insight added
2026-11-13 00:54 HNF1B appears alongside tumour risk in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with tumour risk in 30 independent documents (of 177 documents mentioning HNF1B and 93 mentioning tumour risk). Association strength 0.17.
2026-11-13 00:54 HNF1B appears alongside tumour risk in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with tumour risk in 30 independent documents (of 177 documents mentioning HNF1B and 93 mentioning tumour risk). Association strength 0.17.
insight added
2026-11-13 00:54 LHX1 appears alongside genital and müllerian development in 29 sources
Across the collected corpus, the gene LHX1 co-occurs with genital and müllerian development in 29 independent documents (of 45 documents mentioning LHX1 and 121 mentioning genital and müllerian development)....
2026-11-13 00:54 LHX1 appears alongside genital and müllerian development in 29 sources
Across the collected corpus, the gene LHX1 co-occurs with genital and müllerian development in 29 independent documents (of 45 documents mentioning LHX1 and 121 mentioning genital and müllerian development)....
insight added
2026-11-13 00:54 LHX1 appears alongside diabetes and metabolism in 28 sources
Across the collected corpus, the gene LHX1 co-occurs with diabetes and metabolism in 28 independent documents (of 45 documents mentioning LHX1 and 197 mentioning diabetes and metabolism). Association strength 0.14.
2026-11-13 00:54 LHX1 appears alongside diabetes and metabolism in 28 sources
Across the collected corpus, the gene LHX1 co-occurs with diabetes and metabolism in 28 independent documents (of 45 documents mentioning LHX1 and 197 mentioning diabetes and metabolism). Association strength 0.14.
insight added
2026-11-13 00:54 HNF1B appears alongside eyes, ears and hearing in 26 sources
Across the collected corpus, the gene HNF1B co-occurs with eyes, ears and hearing in 26 independent documents (of 177 documents mentioning HNF1B and 47 mentioning eyes, ears and hearing). Association strength 0.15.
2026-11-13 00:54 HNF1B appears alongside eyes, ears and hearing in 26 sources
Across the collected corpus, the gene HNF1B co-occurs with eyes, ears and hearing in 26 independent documents (of 177 documents mentioning HNF1B and 47 mentioning eyes, ears and hearing). Association strength 0.15.
insight added
2026-11-13 00:54 LHX1 appears alongside learning, speech and behaviour in 22 sources
Across the collected corpus, the gene LHX1 co-occurs with learning, speech and behaviour in 22 independent documents (of 45 documents mentioning LHX1 and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 LHX1 appears alongside learning, speech and behaviour in 22 sources
Across the collected corpus, the gene LHX1 co-occurs with learning, speech and behaviour in 22 independent documents (of 45 documents mentioning LHX1 and 155 mentioning learning, speech and behaviour). Association...
insight added
2026-11-13 00:54 LHX1 appears alongside liver and gallbladder in 17 sources
Across the collected corpus, the gene LHX1 co-occurs with liver and gallbladder in 17 independent documents (of 45 documents mentioning LHX1 and 109 mentioning liver and gallbladder). Association strength 0.16.
2026-11-13 00:54 LHX1 appears alongside liver and gallbladder in 17 sources
Across the collected corpus, the gene LHX1 co-occurs with liver and gallbladder in 17 independent documents (of 45 documents mentioning LHX1 and 109 mentioning liver and gallbladder). Association strength 0.16.
insight added
2026-11-13 00:54 LHX1 appears alongside skeleton and limbs in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with skeleton and limbs in 15 independent documents (of 45 documents mentioning LHX1 and 55 mentioning skeleton and limbs). Association strength 0.27.
2026-11-13 00:54 LHX1 appears alongside skeleton and limbs in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with skeleton and limbs in 15 independent documents (of 45 documents mentioning LHX1 and 55 mentioning skeleton and limbs). Association strength 0.27.
insight added
2026-11-13 00:54 LHX1 appears alongside the heart in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with the heart in 15 independent documents (of 45 documents mentioning LHX1 and 85 mentioning the heart). Association strength 0.18.
2026-11-13 00:54 LHX1 appears alongside the heart in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with the heart in 15 independent documents (of 45 documents mentioning LHX1 and 85 mentioning the heart). Association strength 0.18.
insight added
2026-11-13 00:54 ACACA appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene ACACA co-occurs with learning, speech and behaviour in 13 independent documents (of 21 documents mentioning ACACA and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 ACACA appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene ACACA co-occurs with learning, speech and behaviour in 13 independent documents (of 21 documents mentioning ACACA and 155 mentioning learning, speech and behaviour). Association...
insight added
2026-11-13 00:54 PIGW appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene PIGW co-occurs with learning, speech and behaviour in 13 independent documents (of 18 documents mentioning PIGW and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 PIGW appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene PIGW co-occurs with learning, speech and behaviour in 13 independent documents (of 18 documents mentioning PIGW and 155 mentioning learning, speech and behaviour). Association...
insight added
2026-11-13 00:54 LHX1 appears alongside growth, gut and nutrition in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with growth, gut and nutrition in 11 independent documents (of 45 documents mentioning LHX1 and 65 mentioning growth, gut and nutrition). Association strength 0.17.
2026-11-13 00:54 LHX1 appears alongside growth, gut and nutrition in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with growth, gut and nutrition in 11 independent documents (of 45 documents mentioning LHX1 and 65 mentioning growth, gut and nutrition). Association strength 0.17.
insight added
2026-11-13 00:54 ACACA appears alongside liver and gallbladder in 11 sources
Across the collected corpus, the gene ACACA co-occurs with liver and gallbladder in 11 independent documents (of 21 documents mentioning ACACA and 109 mentioning liver and gallbladder). Association strength 0.10.
2026-11-13 00:54 ACACA appears alongside liver and gallbladder in 11 sources
Across the collected corpus, the gene ACACA co-occurs with liver and gallbladder in 11 independent documents (of 21 documents mentioning ACACA and 109 mentioning liver and gallbladder). Association strength 0.10.
insight added
2026-11-13 00:54 ZNHIT3 appears alongside liver and gallbladder in 10 sources
Across the collected corpus, the gene ZNHIT3 co-occurs with liver and gallbladder in 10 independent documents (of 14 documents mentioning ZNHIT3 and 109 mentioning liver and gallbladder). Association strength 0.09.
2026-11-13 00:54 ZNHIT3 appears alongside liver and gallbladder in 10 sources
Across the collected corpus, the gene ZNHIT3 co-occurs with liver and gallbladder in 10 independent documents (of 14 documents mentioning ZNHIT3 and 109 mentioning liver and gallbladder). Association strength 0.09.
insight added
2026-11-13 00:54 PIGW appears alongside liver and gallbladder in 9 sources
Across the collected corpus, the gene PIGW co-occurs with liver and gallbladder in 9 independent documents (of 18 documents mentioning PIGW and 109 mentioning liver and gallbladder). Association strength 0.08.
2026-11-13 00:54 PIGW appears alongside liver and gallbladder in 9 sources
Across the collected corpus, the gene PIGW co-occurs with liver and gallbladder in 9 independent documents (of 18 documents mentioning PIGW and 109 mentioning liver and gallbladder). Association strength 0.08.
insight added
2026-11-13 00:54 LHX1 appears alongside eyes, ears and hearing in 6 sources
Across the collected corpus, the gene LHX1 co-occurs with eyes, ears and hearing in 6 independent documents (of 45 documents mentioning LHX1 and 47 mentioning eyes, ears and hearing). Association strength 0.13.
2026-11-13 00:54 LHX1 appears alongside eyes, ears and hearing in 6 sources
Across the collected corpus, the gene LHX1 co-occurs with eyes, ears and hearing in 6 independent documents (of 45 documents mentioning LHX1 and 47 mentioning eyes, ears and hearing). Association strength 0.13.
insight added
2026-11-13 00:54 PIGW appears alongside growth, gut and nutrition in 6 sources
Across the collected corpus, the gene PIGW co-occurs with growth, gut and nutrition in 6 independent documents (of 18 documents mentioning PIGW and 65 mentioning growth, gut and nutrition). Association strength 0.09.
2026-11-13 00:54 PIGW appears alongside growth, gut and nutrition in 6 sources
Across the collected corpus, the gene PIGW co-occurs with growth, gut and nutrition in 6 independent documents (of 18 documents mentioning PIGW and 65 mentioning growth, gut and nutrition). Association strength 0.09.
insight added
2026-11-13 00:54 PIGW appears alongside eyes, ears and hearing in 4 sources
Across the collected corpus, the gene PIGW co-occurs with eyes, ears and hearing in 4 independent documents (of 18 documents mentioning PIGW and 47 mentioning eyes, ears and hearing). Association strength 0.09.
2026-11-13 00:54 PIGW appears alongside eyes, ears and hearing in 4 sources
Across the collected corpus, the gene PIGW co-occurs with eyes, ears and hearing in 4 independent documents (of 18 documents mentioning PIGW and 47 mentioning eyes, ears and hearing). Association strength 0.09.
insight added
2026-11-13 00:54 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 00:54 New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
insight added
2026-11-13 00:54 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 00:54 New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-13 00:54 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 00:54 New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
insight added
2026-11-13 00:54 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 00:54 New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
insight added
2026-11-13 00:54 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 00:54 New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
insight added
2026-11-13 00:54 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 00:54 New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
insight added
2026-11-13 00:54 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 00:54 New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
insight added
2026-11-13 00:54 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 00:54 New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
insight added
2026-11-13 00:54 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 00:54 New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
insight added
2026-11-13 00:54 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 00:54 New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
insight added
2026-11-13 00:54 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 00:54 New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
insight added
2026-11-13 00:54 New observation reported: Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discove…
A source describes a new or expanded observation: “Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different...
2026-11-13 00:54 New observation reported: Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discove…
A source describes a new or expanded observation: “Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different...
insight added
2026-11-13 00:54 New observation reported: We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 4…
A source describes a new or expanded observation: “We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of...
2026-11-13 00:54 New observation reported: We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 4…
A source describes a new or expanded observation: “We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of...
insight added
2026-11-13 00:54 New observation reported: Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome…
A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”
2026-11-13 00:54 New observation reported: Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome…
A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”
insight added
2026-11-13 00:54 New observation reported: For the first time, we delineated and described the smallest minimal critical region, including the single BDH…
A source describes a new or expanded observation: “For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated...
2026-11-13 00:54 New observation reported: For the first time, we delineated and described the smallest minimal critical region, including the single BDH…
A source describes a new or expanded observation: “For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated...
insight added
2026-11-13 00:54 New observation reported: Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-on…
A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”
2026-11-13 00:54 New observation reported: Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-on…
A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”
insight added
2026-11-13 00:54 New observation reported: In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and exp…
A source describes a new or expanded observation: “In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.”
2026-11-13 00:54 New observation reported: In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and exp…
A source describes a new or expanded observation: “In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.”
insight added
2026-11-13 00:54 New observation reported: Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the develo…
A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the...
2026-11-13 00:54 New observation reported: Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the develo…
A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the...
insight added
2026-11-13 00:54 New observation reported: P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neu…
A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”
2026-11-13 00:54 New observation reported: P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neu…
A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”
insight added
2026-11-13 00:54 New observation reported: Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro mod…
A source describes a new or expanded observation: “Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro model systems to understand their roles in abnormal kidney...
2026-11-13 00:54 New observation reported: Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro mod…
A source describes a new or expanded observation: “Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro model systems to understand their roles in abnormal kidney...
insight added
2026-11-13 00:54 New observation reported: Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain netwo…
A source describes a new or expanded observation: “Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain network analysis of POE may also yield novel findings.”
2026-11-13 00:54 New observation reported: Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain netwo…
A source describes a new or expanded observation: “Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain network analysis of POE may also yield novel findings.”
insight added
2026-11-13 00:54 New observation reported: Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, pa…
A source describes a new or expanded observation: “Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, particularly those with a history of psychiatric...
2026-11-13 00:54 New observation reported: Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, pa…
A source describes a new or expanded observation: “Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, particularly those with a history of psychiatric...
insight added
2026-11-13 00:54 New observation reported: The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic f…
A source describes a new or expanded observation: “The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic factors discussed in this review may offer insights into...
2026-11-13 00:54 New observation reported: The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic f…
A source describes a new or expanded observation: “The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic factors discussed in this review may offer insights into...
insight added
2026-11-13 00:54 New observation reported: Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified …
A source describes a new or expanded observation: “Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
2026-11-13 00:54 New observation reported: Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified …
A source describes a new or expanded observation: “Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
insight added
2026-11-13 00:54 New observation reported: Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pa…
A source describes a new or expanded observation: “Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
2026-11-13 00:54 New observation reported: Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pa…
A source describes a new or expanded observation: “Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
insight added
2026-11-13 00:54 New observation reported: One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first repo…
A source describes a new or expanded observation: “One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first reported case in the literature that demonstrated a...
2026-11-13 00:54 New observation reported: One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first repo…
A source describes a new or expanded observation: “One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first reported case in the literature that demonstrated a...
insight added
2026-11-13 00:54 New observation reported: A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary vei…
A source describes a new or expanded observation: “A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.”
2026-11-13 00:54 New observation reported: A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary vei…
A source describes a new or expanded observation: “A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.”
insight added
2026-11-13 00:54 New observation reported: Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes…
A source describes a new or expanded observation: “Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.”
2026-11-13 00:54 New observation reported: Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes…
A source describes a new or expanded observation: “Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.”
insight added
2026-11-13 00:54 New observation reported: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B ge…
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been...
2026-11-13 00:54 New observation reported: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B ge…
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been...
insight added
2026-11-13 00:54 New observation reported: Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which …
A source describes a new or expanded observation: “Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which a given gene is associated with a particular form of...
2026-11-13 00:54 New observation reported: Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which …
A source describes a new or expanded observation: “Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which a given gene is associated with a particular form of...
insight added
2026-11-13 00:54 New observation reported: We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting wi…
A source describes a new or expanded observation: “We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk...
2026-11-13 00:54 New observation reported: We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting wi…
A source describes a new or expanded observation: “We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk...
insight added
2026-11-13 00:54 New observation reported: We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic fe…
A source describes a new or expanded observation: “We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS)...
2026-11-13 00:54 New observation reported: We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic fe…
A source describes a new or expanded observation: “We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS)...
insight added
2026-11-13 00:54 New observation reported: Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a no…
A source describes a new or expanded observation: “Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a...
2026-11-13 00:54 New observation reported: Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a no…
A source describes a new or expanded observation: “Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a...
insight added
2026-11-13 00:54 New observation reported: Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders…
A source describes a new or expanded observation: “Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.”
2026-11-13 00:54 New observation reported: Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders…
A source describes a new or expanded observation: “Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.”
insight added
2026-11-13 00:54 New observation reported: Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism…
A source describes a new or expanded observation: “Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.”
2026-11-13 00:54 New observation reported: Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism…
A source describes a new or expanded observation: “Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.”
insight added
2026-11-13 00:54 New observation reported: A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and au…
A source describes a new or expanded observation: “A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.”
2026-11-13 00:54 New observation reported: A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and au…
A source describes a new or expanded observation: “A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.”
insight added
2026-11-13 00:54 New observation reported: 12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, …
A source describes a new or expanded observation: “12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, to validate our cell line and its relevance to ASD.”
2026-11-13 00:54 New observation reported: 12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, …
A source describes a new or expanded observation: “12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, to validate our cell line and its relevance to ASD.”
insight added
2026-11-13 00:54 New observation reported: These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b…
A source describes a new or expanded observation: “These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b levels in the mTOR pathway, may implicate the novel...
2026-11-13 00:54 New observation reported: These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b…
A source describes a new or expanded observation: “These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b levels in the mTOR pathway, may implicate the novel...
insight added
2026-11-13 00:54 New observation reported: We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a l…
A source describes a new or expanded observation: “We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate...
2026-11-13 00:54 New observation reported: We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a l…
A source describes a new or expanded observation: “We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate...
insight added
2026-11-13 00:54 New observation reported: In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diag…
A source describes a new or expanded observation: “In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diagnosed during her first pregnancy.”
2026-11-13 00:54 New observation reported: In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diag…
A source describes a new or expanded observation: “In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diagnosed during her first pregnancy.”
insight added
2026-11-13 00:54 New observation reported: Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder sha…
A source describes a new or expanded observation: “Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point...
2026-11-13 00:54 New observation reported: Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder sha…
A source describes a new or expanded observation: “Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point...
insight added
2026-11-13 00:54 New observation reported: Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RE…
A source describes a new or expanded observation: “Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients...
2026-11-13 00:54 New observation reported: Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RE…
A source describes a new or expanded observation: “Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients...
insight added
2026-11-13 00:54 New observation reported: This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sam…
A source describes a new or expanded observation: “This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sample and what pathways may be represented by these...
2026-11-13 00:54 New observation reported: This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sam…
A source describes a new or expanded observation: “This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sample and what pathways may be represented by these...
insight added
2026-11-13 00:54 New observation reported: OGM enables precise visualization of complex structural variations, providing deeper insights into genomic arc…
A source describes a new or expanded observation: “OGM enables precise visualization of complex structural variations, providing deeper insights into genomic architecture, prognostic implications, and potential novel...
2026-11-13 00:54 New observation reported: OGM enables precise visualization of complex structural variations, providing deeper insights into genomic arc…
A source describes a new or expanded observation: “OGM enables precise visualization of complex structural variations, providing deeper insights into genomic architecture, prognostic implications, and potential novel...
insight added
2026-11-13 00:54 New observation reported: Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes…
A source describes a new or expanded observation: “Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear...
2026-11-13 00:54 New observation reported: Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes…
A source describes a new or expanded observation: “Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear...
insight added
2026-11-13 00:54 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 00:54 New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
insight added
2026-11-13 00:54 New observation reported: Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS…
A source describes a new or expanded observation: “Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.”
2026-11-13 00:54 New observation reported: Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS…
A source describes a new or expanded observation: “Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.”
insight added
2026-11-13 00:54 New observation reported: Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
2026-11-13 00:54 New observation reported: Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
insight added
2026-11-13 00:54 New observation reported: This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
2026-11-13 00:54 New observation reported: This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
insight added
2026-11-13 00:54 New observation reported: These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 an…
A source describes a new or expanded observation: “These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 and examining rates of kidney growth in children with ADPKD 77 .”
2026-11-13 00:54 New observation reported: These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 an…
A source describes a new or expanded observation: “These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 and examining rates of kidney growth in children with ADPKD 77 .”
insight added
2026-11-13 00:54 New observation reported: Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q i…
A source describes a new or expanded observation: “Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.”
2026-11-13 00:54 New observation reported: Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q i…
A source describes a new or expanded observation: “Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.”
insight added
2026-11-13 00:54 New observation reported: Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar …
A source describes a new or expanded observation: “Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy...
2026-11-13 00:54 New observation reported: Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar …
A source describes a new or expanded observation: “Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy...
insight added
2026-11-13 00:54 New observation reported: The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the publi…
A source describes a new or expanded observation: “The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the published literature, except for specific novel findings in...
2026-11-13 00:54 New observation reported: The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the publi…
A source describes a new or expanded observation: “The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the published literature, except for specific novel findings in...
insight added
2026-11-13 00:54 New observation reported: Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function …
A source describes a new or expanded observation: “Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function and kidney health.”
2026-11-13 00:54 New observation reported: Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function …
A source describes a new or expanded observation: “Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function and kidney health.”
insight added
2026-11-13 00:54 New observation reported: To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybr…
A source describes a new or expanded observation: “To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybridization on a set of 22 human pancreatic cancer cell...
2026-11-13 00:54 New observation reported: To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybr…
A source describes a new or expanded observation: “To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybridization on a set of 22 human pancreatic cancer cell...
insight added
2026-11-13 00:54 New observation reported: We describe the first example of a recurrent genomic disorder associated with diabetes…
A source describes a new or expanded observation: “We describe the first example of a recurrent genomic disorder associated with diabetes.”
2026-11-13 00:54 New observation reported: We describe the first example of a recurrent genomic disorder associated with diabetes…
A source describes a new or expanded observation: “We describe the first example of a recurrent genomic disorder associated with diabetes.”
insight added
2026-11-13 00:54 New observation reported: Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-relate…
A source describes a new or expanded observation: “Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-related genes that are potentially involved in the evolution...
2026-11-13 00:54 New observation reported: Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-relate…
A source describes a new or expanded observation: “Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-related genes that are potentially involved in the evolution...
insight added
2026-11-13 00:54 New observation reported: Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene…
A source describes a new or expanded observation: “Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.”
2026-11-13 00:54 New observation reported: Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene…
A source describes a new or expanded observation: “Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.”
insight added
2026-11-13 00:54 New observation reported: These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associat…
A source describes a new or expanded observation: “These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associated with Müllerian aplasia, four cases of microdeletion...
2026-11-13 00:54 New observation reported: These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associat…
A source describes a new or expanded observation: “These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associated with Müllerian aplasia, four cases of microdeletion...
insight added
2026-11-13 00:54 New observation reported: Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving compl…
A source describes a new or expanded observation: “Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.”
2026-11-13 00:54 New observation reported: Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving compl…
A source describes a new or expanded observation: “Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.”
insight added
2026-11-13 00:54 New observation reported: To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phen…
A source describes a new or expanded observation: “To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.”
2026-11-13 00:54 New observation reported: To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phen…
A source describes a new or expanded observation: “To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.”
insight added
2026-11-13 00:54 New observation reported: We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical moveme…
A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a...
2026-11-13 00:54 New observation reported: We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical moveme…
A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a...
insight added
2026-11-13 00:54 New observation reported: We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present ca…
A source describes a new or expanded observation: “We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case.”
2026-11-13 00:54 New observation reported: We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present ca…
A source describes a new or expanded observation: “We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case.”
insight added
2026-11-13 00:54 New observation reported: In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1…
A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual...
2026-11-13 00:54 New observation reported: In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1…
A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual...
insight added
2026-11-13 00:54 New observation reported: Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in whic…
A source describes a new or expanded observation: “Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented.”
2026-11-13 00:54 New observation reported: Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in whic…
A source describes a new or expanded observation: “Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented.”
insight added
2026-11-13 00:54 New observation reported: We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of…
A source describes a new or expanded observation: “We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning...
2026-11-13 00:54 New observation reported: We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of…
A source describes a new or expanded observation: “We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning...
insight added
2026-11-13 00:54 New observation reported: These changes correspond to putative alternative isoforms-several of which are novel-that are differentially e…
A source describes a new or expanded observation: “These changes correspond to putative alternative isoforms-several of which are novel-that are differentially expressed between tumors of varying metastatic phenotypes.”
2026-11-13 00:54 New observation reported: These changes correspond to putative alternative isoforms-several of which are novel-that are differentially e…
A source describes a new or expanded observation: “These changes correspond to putative alternative isoforms-several of which are novel-that are differentially expressed between tumors of varying metastatic phenotypes.”
insight added
2026-11-13 00:54 New observation reported: Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remainin…
A source describes a new or expanded observation: “Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remaining candidates have no established link with cancer...
2026-11-13 00:54 New observation reported: Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remainin…
A source describes a new or expanded observation: “Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remaining candidates have no established link with cancer...
insight added
2026-11-13 00:54 New observation reported: Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons…
A source describes a new or expanded observation: “Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons.”
2026-11-13 00:54 New observation reported: Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons…
A source describes a new or expanded observation: “Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons.”
insight added
2026-11-13 00:54 New observation reported: It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast can…
A source describes a new or expanded observation: “It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast cancer metastasis.”
2026-11-13 00:54 New observation reported: It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast can…
A source describes a new or expanded observation: “It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast cancer metastasis.”
insight added
2026-11-13 00:54 New observation reported: Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas…
A source describes a new or expanded observation: “Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas.”
2026-11-13 00:54 New observation reported: Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas…
A source describes a new or expanded observation: “Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas.”
insight added
2026-11-13 00:54 New observation reported: Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian…
A source describes a new or expanded observation: “Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian Duct Anomalies," Human Reproduction 31, no.”
2026-11-13 00:54 New observation reported: Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian…
A source describes a new or expanded observation: “Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian Duct Anomalies," Human Reproduction 31, no.”
insight added
2026-11-13 00:54 New observation reported: S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expans…
A source describes a new or expanded observation: “S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies,"...
2026-11-13 00:54 New observation reported: S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expans…
A source describes a new or expanded observation: “S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies,"...
insight added
2026-11-13 00:54 New observation reported: Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly,…
A source describes a new or expanded observation: “Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly," Human Reproduction 26, no.”
2026-11-13 00:54 New observation reported: Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly,…
A source describes a new or expanded observation: “Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly," Human Reproduction 26, no.”
insight added
2026-11-13 00:54 New observation reported: Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European…
A source describes a new or expanded observation: “Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European Journal of Obstetrics, Gynecology, and Reproductive...
2026-11-13 00:54 New observation reported: Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European…
A source describes a new or expanded observation: “Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European Journal of Obstetrics, Gynecology, and Reproductive...
insight added
2026-11-13 00:54 New observation reported: Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a T…
A source describes a new or expanded observation: “Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a Three‐Generation Family With Renal...
2026-11-13 00:54 New observation reported: Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a T…
A source describes a new or expanded observation: “Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a Three‐Generation Family With Renal...
insight added
2026-11-13 00:54 New observation reported: D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a N…
A source describes a new or expanded observation: “D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, no.”
2026-11-13 00:54 New observation reported: D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a N…
A source describes a new or expanded observation: “D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, no.”
insight added
2026-11-13 00:54 New observation reported: S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT…
A source describes a new or expanded observation: “S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of...
2026-11-13 00:54 New observation reported: S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT…
A source describes a new or expanded observation: “S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of...
insight added
2026-11-13 00:54 New observation reported: Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by …
A source describes a new or expanded observation: “Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease...
2026-11-13 00:54 New observation reported: Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by …
A source describes a new or expanded observation: “Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease...
insight added
2026-11-13 00:54 New observation reported: (2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
2026-11-13 00:54 New observation reported: (2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
insight added
2026-11-13 00:54 New observation reported: (1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
2026-11-13 00:54 New observation reported: (1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
insight added
2026-11-13 00:54 New observation reported: A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis…
A source describes a new or expanded observation: “A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.”
2026-11-13 00:54 New observation reported: A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis…
A source describes a new or expanded observation: “A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.”
insight added
2026-11-13 00:54 New observation reported: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-…
A source describes a new or expanded observation: “Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).”
2026-11-13 00:54 New observation reported: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-…
A source describes a new or expanded observation: “Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).”
insight added
2026-11-13 00:54 New observation reported: Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has …
A source describes a new or expanded observation: “Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has long been recognized as a concomitant alteration of...
2026-11-13 00:54 New observation reported: Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has …
A source describes a new or expanded observation: “Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has long been recognized as a concomitant alteration of...
insight added
2026-11-13 00:54 New observation reported: Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor i…
A source describes a new or expanded observation: “Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor independent of the systemic metabolic state,...
2026-11-13 00:54 New observation reported: Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor i…
A source describes a new or expanded observation: “Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor independent of the systemic metabolic state,...
insight added
2026-11-13 00:54 New observation reported: Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis…
A source describes a new or expanded observation: “Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis.”
2026-11-13 00:54 New observation reported: Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis…
A source describes a new or expanded observation: “Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis.”
insight added
2026-11-13 00:54 New observation reported: Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HN…
A source describes a new or expanded observation: “Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HNF1-mediated regulatory networks, providing novel...
2026-11-13 00:54 New observation reported: Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HN…
A source describes a new or expanded observation: “Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HNF1-mediated regulatory networks, providing novel...
insight added
2026-11-13 00:54 New observation reported: This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously…
A source describes a new or expanded observation: “This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously promotes cholesterol export and limits exogenous...
2026-11-13 00:54 New observation reported: This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously…
A source describes a new or expanded observation: “This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously promotes cholesterol export and limits exogenous...
insight added
2026-11-13 00:54 New observation reported: Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a …
A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and...
2026-11-13 00:54 New observation reported: Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a …
A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and...
insight added
2026-11-13 00:54 New observation reported: Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX…
A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV...
2026-11-13 00:54 New observation reported: Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX…
A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV...
insight added
2026-11-13 00:54 New observation reported: Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of t…
A source describes a new or expanded observation: “Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of...
2026-11-13 00:54 New observation reported: Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of t…
A source describes a new or expanded observation: “Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of...
insight added
2026-11-13 00:54 New observation reported: Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests th…
A source describes a new or expanded observation: “Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests that environmental and metabolic modifiers, such as...
2026-11-13 00:54 New observation reported: Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests th…
A source describes a new or expanded observation: “Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests that environmental and metabolic modifiers, such as...
insight added
2026-11-13 00:54 New observation reported: The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of t…
A source describes a new or expanded observation: “The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all...
2026-11-13 00:54 New observation reported: The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of t…
A source describes a new or expanded observation: “The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all...
insight added
2026-11-13 00:54 New observation reported: 12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left ingui…
A source describes a new or expanded observation: “12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left inguinal hernia, and left renal fusion with malrotation, and...
2026-11-13 00:54 New observation reported: 12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left ingui…
A source describes a new or expanded observation: “12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left inguinal hernia, and left renal fusion with malrotation, and...
insight added
2026-11-13 00:54 New observation reported: In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal f…
A source describes a new or expanded observation: “In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.”
2026-11-13 00:54 New observation reported: In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal f…
A source describes a new or expanded observation: “In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.”
insight added
2026-11-13 00:54 New observation reported: Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agene…
A source describes a new or expanded observation: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in...
2026-11-13 00:54 New observation reported: Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agene…
A source describes a new or expanded observation: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in...
insight added
2026-11-13 00:54 New observation reported: This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the …
A source describes a new or expanded observation: “This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report...
2026-11-13 00:54 New observation reported: This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the …
A source describes a new or expanded observation: “This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report...
insight added
2026-11-13 00:54 New observation reported: The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and …
A source describes a new or expanded observation: “The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.”
2026-11-13 00:54 New observation reported: The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and …
A source describes a new or expanded observation: “The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.”
insight added
2026-11-13 00:54 New observation reported: Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature…
A source describes a new or expanded observation: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
2026-11-13 00:54 New observation reported: Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature…
A source describes a new or expanded observation: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
insight added
2026-11-13 00:54 New observation reported: The objectives were to define the clinical and phenotypic variability within this cohort, identify previously …
A source describes a new or expanded observation: “The objectives were to define the clinical and phenotypic variability within this cohort, identify previously unreported (novel) mutations, and determine the...
2026-11-13 00:54 New observation reported: The objectives were to define the clinical and phenotypic variability within this cohort, identify previously …
A source describes a new or expanded observation: “The objectives were to define the clinical and phenotypic variability within this cohort, identify previously unreported (novel) mutations, and determine the...
insight added
2026-11-13 00:54 New observation reported: To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MR…
A source describes a new or expanded observation: “To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MRI.”
2026-11-13 00:54 New observation reported: To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MR…
A source describes a new or expanded observation: “To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MRI.”
insight added
2026-11-13 00:54 New observation reported: We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism d…
A source describes a new or expanded observation: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”
2026-11-13 00:54 New observation reported: We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism d…
A source describes a new or expanded observation: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”
insight added
2026-11-13 00:54 New observation reported: In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with …
A source describes a new or expanded observation: “In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.”
2026-11-13 00:54 New observation reported: In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with …
A source describes a new or expanded observation: “In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.”
insight added
2026-11-13 00:54 New observation reported: Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-depe…
A source describes a new or expanded observation: “Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].”
2026-11-13 00:54 New observation reported: Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-depe…
A source describes a new or expanded observation: “Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].”
insight added
2026-11-13 00:54 New observation reported: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with prec…
A source describes a new or expanded observation: “We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.”
2026-11-13 00:54 New observation reported: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with prec…
A source describes a new or expanded observation: “We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.”
insight added
2026-11-13 00:54 New observation reported: CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional inform…
A source describes a new or expanded observation: “CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our...
2026-11-13 00:54 New observation reported: CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional inform…
A source describes a new or expanded observation: “CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our...
insight added
2026-11-13 00:54 New observation reported: The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution…
A source describes a new or expanded observation: “The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution of renal parenchymal hyperechogenicity, without...
2026-11-13 00:54 New observation reported: The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution…
A source describes a new or expanded observation: “The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution of renal parenchymal hyperechogenicity, without...
insight added
2026-11-13 00:54 New observation reported: Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormal…
A source describes a new or expanded observation: “Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented...
2026-11-13 00:54 New observation reported: Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormal…
A source describes a new or expanded observation: “Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented...
insight added
2026-11-13 00:54 New observation reported: Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration…
A source describes a new or expanded observation: “Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration and invasion, the relative functional significance and...
2026-11-13 00:54 New observation reported: Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration…
A source describes a new or expanded observation: “Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration and invasion, the relative functional significance and...
insight added
2026-11-13 00:54 New observation reported: Conclusions This is the first report of social anxiety disorder in ACC patients…
A source describes a new or expanded observation: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
2026-11-13 00:54 New observation reported: Conclusions This is the first report of social anxiety disorder in ACC patients…
A source describes a new or expanded observation: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
insight added
2026-11-13 00:54 New observation reported: Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with com…
A source describes a new or expanded observation: “Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with comorbid social anxiety disorder, and accompanied by...
2026-11-13 00:54 New observation reported: Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with com…
A source describes a new or expanded observation: “Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with comorbid social anxiety disorder, and accompanied by...
insight added
2026-11-13 00:54 New observation reported: That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, a…
A source describes a new or expanded observation: “That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, and passive withdrawal in novel situations [ 39 ], may...
2026-11-13 00:54 New observation reported: That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, a…
A source describes a new or expanded observation: “That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, and passive withdrawal in novel situations [ 39 ], may...
insight added
2026-11-13 00:54 New observation reported: In summary, this is the first report of an ACC patient combined with social anxiety disorder…
A source describes a new or expanded observation: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
2026-11-13 00:54 New observation reported: In summary, this is the first report of an ACC patient combined with social anxiety disorder…
A source describes a new or expanded observation: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
insight added
2026-11-13 00:54 New observation reported: Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary micr…
A source describes a new or expanded observation: “Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS):...
2026-11-13 00:54 New observation reported: Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary micr…
A source describes a new or expanded observation: “Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS):...
insight added
2026-11-13 00:54 New observation reported: 36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, inclu…
A source describes a new or expanded observation: “36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, including a novel MCPH1 mutation associated with autosomal...
2026-11-13 00:54 New observation reported: 36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, inclu…
A source describes a new or expanded observation: “36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, including a novel MCPH1 mutation associated with autosomal...
insight added
2026-11-13 00:54 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-13 00:54 New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
insight added
2026-11-13 00:54 New observation reported: This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood…
A source describes a new or expanded observation: “This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome...
2026-11-13 00:54 New observation reported: This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood…
A source describes a new or expanded observation: “This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome...
insight added
2026-11-13 00:54 New observation reported: Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperin…
A source describes a new or expanded observation: “Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose...
2026-11-13 00:54 New observation reported: Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperin…
A source describes a new or expanded observation: “Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose...
insight added
2026-11-13 00:54 New observation reported: Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell f…
A source describes a new or expanded observation: “Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell function, shifting the management paradigm from pure...
2026-11-13 00:54 New observation reported: Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell f…
A source describes a new or expanded observation: “Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell function, shifting the management paradigm from pure...
insight added
2026-11-13 00:54 HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls
A source reports “99.9%” in the context of general: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
2026-11-13 00:54 HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls
A source reports “99.9%” in the context of general: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
insight added
2026-11-13 00:54 Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1
A source reports “1%” in the context of general: “Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1% frequency.”
2026-11-13 00:54 Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1
A source reports “1%” in the context of general: “Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1% frequency.”
insight added
2026-11-13 00:54 Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥
A source reports “2.5%” in the context of general: “Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4)...
2026-11-13 00:54 Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥
A source reports “2.5%” in the context of general: “Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4)...
insight added
2026-11-13 00:54 Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epile
A source reports “0.005%” in the context of neurodevelopment: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis...
2026-11-13 00:54 Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epile
A source reports “0.005%” in the context of neurodevelopment: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis...
insight added
2026-11-13 00:54 This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy ca
A source reports “90%” in the context of neurodevelopment: “This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980...
2026-11-13 00:54 This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy ca
A source reports “90%” in the context of neurodevelopment: “This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980...
insight added
2026-11-13 00:54 To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exo
A source reports “0.1%” in the context of general: “To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a...
2026-11-13 00:54 To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exo
A source reports “0.1%” in the context of general: “To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a...
insight added
2026-11-13 00:54 1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological condi
A source reports “000 individuals” in the context of neurodevelopment: “1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological conditions.”
2026-11-13 00:54 1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological condi
A source reports “000 individuals” in the context of neurodevelopment: “1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological conditions.”
insight added
2026-11-13 00:54 After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 contr
A source reports “979 individuals” in the context of neurodevelopment: “After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 controls without known...
2026-11-13 00:54 After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 contr
A source reports “979 individuals” in the context of neurodevelopment: “After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 controls without known...
insight added
2026-11-13 00:54 We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosi
A source reports “938 individuals” in the context of neurodevelopment: “We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosis of a DEE, 5,499 with...
2026-11-13 00:54 We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosi
A source reports “938 individuals” in the context of neurodevelopment: “We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosis of a DEE, 5,499 with...
insight added
2026-11-13 00:54 7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20%
A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort...
2026-11-13 00:54 7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20%
A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort...
insight added
2026-11-13 00:54 Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc
A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations...
2026-11-13 00:54 Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc
A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations...
insight added
2026-11-13 00:54 The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three N
A source reports “94.1%” in the context of neurodevelopment: “The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three NDD gene sets.”
2026-11-13 00:54 The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three N
A source reports “94.1%” in the context of neurodevelopment: “The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three NDD gene sets.”
insight added
2026-11-13 00:54 It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chr
A source reports “69.4%” in the context of general: “It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chromosomal abnormalities of isolated NVFGB in...
2026-11-13 00:54 It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chr
A source reports “69.4%” in the context of general: “It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chromosomal abnormalities of isolated NVFGB in...
insight added
2026-11-13 00:54 Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ]
A source reports “5.9%” in the context of general: “Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ].”
2026-11-13 00:54 Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ]
A source reports “5.9%” in the context of general: “Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ].”
insight added
2026-11-13 00:54 An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than
A source reports “15 individuals” in the context of general: “An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide...
2026-11-13 00:54 An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than
A source reports “15 individuals” in the context of general: “An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide...
insight added
2026-11-13 00:54 Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age
A source reports “45%” in the context of growth nutrition: “Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age.”
2026-11-13 00:54 Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age
A source reports “45%” in the context of growth nutrition: “Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age.”
insight added
2026-11-13 00:54 The features observed in patients with recurrent and large overlapping duplications also significantly complement the kn
A source reports “3%” in the context of neurodevelopment: “The features observed in patients with recurrent and large overlapping duplications also significantly complement the known symptoms; musculoskeletal, brain,...
2026-11-13 00:54 The features observed in patients with recurrent and large overlapping duplications also significantly complement the kn
A source reports “3%” in the context of neurodevelopment: “The features observed in patients with recurrent and large overlapping duplications also significantly complement the known symptoms; musculoskeletal, brain,...
insight added
2026-11-13 00:54 The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial co
A source reports “88.9%” in the context of neurodevelopment: “The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial control or uncontrolled epilepsy...
2026-11-13 00:54 The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial co
A source reports “88.9%” in the context of neurodevelopment: “The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial control or uncontrolled epilepsy...
insight added
2026-11-13 00:54 We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Ou
A source reports “3750 individuals” in the context of kidney: “We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Outcome (ArtDECO) consortium, a...
2026-11-13 00:54 We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Ou
A source reports “3750 individuals” in the context of kidney: “We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Outcome (ArtDECO) consortium, a...
insight added
2026-11-13 00:54 While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tra
A source reports “50%” in the context of kidney: “While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of...
2026-11-13 00:54 While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tra
A source reports “50%” in the context of kidney: “While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of...
insight added
2026-11-13 00:54 Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic arch
A source reports “20%” in the context of kidney: “Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic architecture of CAKUT Given the early observations...
2026-11-13 00:54 Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic arch
A source reports “20%” in the context of kidney: “Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic architecture of CAKUT Given the early observations...
insight added
2026-11-13 00:54 To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of
A source reports “384 cases” in the context of kidney: “To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of 93,384 cases and 9,244,968 controls...
2026-11-13 00:54 To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of
A source reports “384 cases” in the context of kidney: “To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of 93,384 cases and 9,244,968 controls...
insight added
2026-11-13 00:54 However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 pat
A source reports “21 patients” in the context of neurodevelopment: “However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 patients with POE and 23...
2026-11-13 00:54 However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 pat
A source reports “21 patients” in the context of neurodevelopment: “However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 patients with POE and 23...
insight added
2026-11-13 00:54 A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individua
A source reports “8256 individuals” in the context of neurodevelopment: “A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individuals, revealed...
2026-11-13 00:54 A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individua
A source reports “8256 individuals” in the context of neurodevelopment: “A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individuals, revealed...
insight added
2026-11-13 00:54 One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA rec
A source reports “11%” in the context of neurodevelopment: “One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA receptors, voltage-gated potassium...
2026-11-13 00:54 One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA rec
A source reports “11%” in the context of neurodevelopment: “One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA receptors, voltage-gated potassium...
insight added
2026-11-13 00:54 A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for
A source reports “5.6%” in the context of neurodevelopment: “A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for developing psychosis compared with...
2026-11-13 00:54 A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for
A source reports “5.6%” in the context of neurodevelopment: “A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for developing psychosis compared with...
insight added
2026-11-13 00:54 In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7%
A source reports “7%” in the context of neurodevelopment: “In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7% (95% CI: 4.9-9.1%) [ 6 ], whereas the...
2026-11-13 00:54 In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7%
A source reports “7%” in the context of neurodevelopment: “In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7% (95% CI: 4.9-9.1%) [ 6 ], whereas the...
insight added
2026-11-13 00:54 One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of posticta
A source reports “1434 patients” in the context of neurodevelopment: “One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of postictal psychosis was 3.7%.”
2026-11-13 00:54 One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of posticta
A source reports “1434 patients” in the context of neurodevelopment: “One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of postictal psychosis was 3.7%.”
insight added
2026-11-13 00:54 A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four
A source reports “12 patients” in the context of neurodevelopment: “A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four patients worsened at 6...
2026-11-13 00:54 A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four
A source reports “12 patients” in the context of neurodevelopment: “A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four patients worsened at 6...
insight added
2026-11-13 00:54 Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about
A source reports “25%” in the context of neurodevelopment: “Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about 25% of all POE [ 4 , 11 ].”
2026-11-13 00:54 Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about
A source reports “25%” in the context of neurodevelopment: “Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about 25% of all POE [ 4 , 11 ].”
insight added
2026-11-13 00:54 Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about
A source reports “7.0%” in the context of neurodevelopment: “Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about 7.0% [ 17 , 31 ].”
2026-11-13 00:54 Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about
A source reports “7.0%” in the context of neurodevelopment: “Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about 7.0% [ 17 , 31 ].”
insight added
2026-11-13 00:54 A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulatio
A source reports “48.5%” in the context of neurodevelopment: “A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulation (VNS) (13.6%).”
2026-11-13 00:54 A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulatio
A source reports “48.5%” in the context of neurodevelopment: “A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulation (VNS) (13.6%).”
insight added
2026-11-13 00:54 Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new d
A source reports “2067 patients” in the context of neurodevelopment: “Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new drug (either ASMs or...
2026-11-13 00:54 Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new d
A source reports “2067 patients” in the context of neurodevelopment: “Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new drug (either ASMs or...
insight added
2026-11-13 00:54 The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (
A source reports “5.8%” in the context of neurodevelopment: “The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (5.8%) and lamotrigine (3.7%).”
2026-11-13 00:54 The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (
A source reports “5.8%” in the context of neurodevelopment: “The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (5.8%) and lamotrigine (3.7%).”
insight added
2026-11-13 00:54 A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and ea
A source reports “50 patients” in the context of neurodevelopment: “A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and each subregion and found that...
2026-11-13 00:54 A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and ea
A source reports “50 patients” in the context of neurodevelopment: “A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and each subregion and found that...
insight added
2026-11-13 00:54 BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versu
A source reports “38%” in the context of general: “BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versus 33% of FREM2 cases) ( 45 ).”
2026-11-13 00:54 BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versu
A source reports “38%” in the context of general: “BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versus 33% of FREM2 cases) ( 45 ).”
insight added
2026-11-13 00:54 A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with
A source reports “37%” in the context of kidney: “A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with BRA and in 2/10 (20%) of those with URA ( 31...
2026-11-13 00:54 A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with
A source reports “37%” in the context of kidney: “A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with BRA and in 2/10 (20%) of those with URA ( 31...
insight added
2026-11-13 00:54 Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy se
A source reports “10 cases” in the context of kidney: “Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy series of 10 cases of BRA yielded a...
2026-11-13 00:54 Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy se
A source reports “10 cases” in the context of kidney: “Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy series of 10 cases of BRA yielded a...
insight added
2026-11-13 00:54 When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as
A source reports “2022 of 100” in the context of kidney: “When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as illustrated by a large series...
2026-11-13 00:54 When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as
A source reports “2022 of 100” in the context of kidney: “When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as illustrated by a large series...
insight added
2026-11-13 00:54 BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be
A source reports “1 in 7,700” in the context of general: “BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be but one feature of a complex genetic...
2026-11-13 00:54 BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be
A source reports “1 in 7,700” in the context of general: “BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be but one feature of a complex genetic...
insight added
2026-11-13 00:54 Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency
A source reports “40%” in the context of general: “Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].”
2026-11-13 00:54 Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency
A source reports “40%” in the context of general: “Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].”
insight added
2026-11-13 00:54 For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inher
A source reports “18.2%” in the context of neurodevelopment: “For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inherited (0/51) and unknown group...
2026-11-13 00:54 For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inher
A source reports “18.2%” in the context of neurodevelopment: “For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inherited (0/51) and unknown group...
insight added
2026-11-13 00:54 In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15
A source reports “5.2%” in the context of general: “In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15 .”
2026-11-13 00:54 In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15
A source reports “5.2%” in the context of general: “In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15 .”
insight added
2026-11-13 00:54 A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal o
A source reports “141 families” in the context of general: “A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal origin 14 .”
2026-11-13 00:54 A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal o
A source reports “141 families” in the context of general: “A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal origin 14 .”
insight added
2026-11-13 00:54 1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders a
A source reports “37 individuals” in the context of general: “1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders and recurrent sinopulmonary...
2026-11-13 00:54 1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders a
A source reports “37 individuals” in the context of general: “1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders and recurrent sinopulmonary...
insight added
2026-11-13 00:54 1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Ice
A source reports “1 in 14,500” in the context of general: “1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Iceland.”
2026-11-13 00:54 1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Ice
A source reports “1 in 14,500” in the context of general: “1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Iceland.”
insight added
2026-11-13 00:54 Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig
A source reports “52%” in the context of general: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
2026-11-13 00:54 Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig
A source reports “52%” in the context of general: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
insight added
2026-11-13 00:54 The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in
A source reports “15 cases” in the context of diabetes metabolic: “The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in 13 cases (43.3%).”
2026-11-13 00:54 The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in
A source reports “15 cases” in the context of diabetes metabolic: “The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in 13 cases (43.3%).”
insight added
2026-11-13 00:54 Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Backg
A source reports “1 in 5000” in the context of diabetes metabolic: “Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Background and Objectives :...
2026-11-13 00:54 Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Backg
A source reports “1 in 5000” in the context of diabetes metabolic: “Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Background and Objectives :...
insight added
2026-11-13 00:54 The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ]
A source reports “1 in 20,000” in the context of diabetes metabolic: “The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ].”
2026-11-13 00:54 The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ]
A source reports “1 in 20,000” in the context of diabetes metabolic: “The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ].”
insight added
2026-11-13 00:54 An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ]
A source reports “30%” in the context of diabetes metabolic: “An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ].”
2026-11-13 00:54 An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ]
A source reports “30%” in the context of diabetes metabolic: “An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ].”
insight added
2026-11-13 00:54 But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obst
A source reports “40 percent” in the context of diabetes metabolic: “But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obstruction and related...
2026-11-13 00:54 But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obst
A source reports “40 percent” in the context of diabetes metabolic: “But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obstruction and related...
insight added
2026-11-13 00:54 Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct grou
A source reports “13 cases” in the context of diabetes metabolic: “Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct groups based on their ethiology:...
2026-11-13 00:54 Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct grou
A source reports “13 cases” in the context of diabetes metabolic: “Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct groups based on their ethiology:...
insight added
2026-11-13 00:54 Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annula
A source reports “46.2%” in the context of diabetes metabolic: “Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annular pancreas, with no significant...
2026-11-13 00:54 Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annula
A source reports “46.2%” in the context of diabetes metabolic: “Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annular pancreas, with no significant...
insight added
2026-11-13 00:54 A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic
A source reports “100%” in the context of diabetes metabolic: “A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic band surrounding the duodenum (...
2026-11-13 00:54 A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic
A source reports “100%” in the context of diabetes metabolic: “A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic band surrounding the duodenum (...
insight added
2026-11-13 00:54 Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the pren
A source reports “80%” in the context of diabetes metabolic: “Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the prenatal period [ 15 ].”
2026-11-13 00:54 Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the pren
A source reports “80%” in the context of diabetes metabolic: “Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the prenatal period [ 15 ].”
insight added
2026-11-13 00:54 We found a 43% ratio of annular pancreas, which is slightly higher than previous studies
A source reports “43%” in the context of diabetes metabolic: “We found a 43% ratio of annular pancreas, which is slightly higher than previous studies.”
2026-11-13 00:54 We found a 43% ratio of annular pancreas, which is slightly higher than previous studies
A source reports “43%” in the context of diabetes metabolic: “We found a 43% ratio of annular pancreas, which is slightly higher than previous studies.”
insight added
2026-11-13 00:54 2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function
A source reports “13%” in the context of diabetes metabolic: “2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function.”
2026-11-13 00:54 2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function
A source reports “13%” in the context of diabetes metabolic: “2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function.”
insight added
2026-11-13 00:54 Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21
A source reports “63.9%” in the context of general: “Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21 ], mostly with trisomy 21.”
2026-11-13 00:54 Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21
A source reports “63.9%” in the context of general: “Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21 ], mostly with trisomy 21.”
insight added
2026-11-13 00:54 More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs
A source reports “77%” in the context of diabetes metabolic: “More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs.”
2026-11-13 00:54 More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs
A source reports “77%” in the context of diabetes metabolic: “More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs.”
insight added
2026-11-13 00:54 Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report o
A source reports “11 cases” in the context of diabetes metabolic: “Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report of 11 cases.”
2026-11-13 00:54 Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report o
A source reports “11 cases” in the context of diabetes metabolic: “Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report of 11 cases.”
insight added
2026-11-13 00:54 Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for di
A source reports “74 individuals” in the context of diabetes metabolic: “Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for distinguishing T1D from...
2026-11-13 00:54 Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for di
A source reports “74 individuals” in the context of diabetes metabolic: “Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for distinguishing T1D from...
insight added
2026-11-13 00:54 The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%)
A source reports “82%” in the context of diabetes metabolic: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
2026-11-13 00:54 The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%)
A source reports “82%” in the context of diabetes metabolic: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
insight added
2026-11-13 00:54 Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CF
A source reports “5 individuals” in the context of diabetes metabolic: “Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with...
2026-11-13 00:54 Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CF
A source reports “5 individuals” in the context of diabetes metabolic: “Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with...
insight added
2026-11-13 00:54 Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobi
A source reports “6.4%” in the context of diabetes metabolic: “Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobin A1c was 6.4%.”
2026-11-13 00:54 Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobi
A source reports “6.4%” in the context of diabetes metabolic: “Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobin A1c was 6.4%.”
insight added
2026-11-13 00:54 Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin
A source reports “6.7%” in the context of diabetes metabolic: “Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin A1c 6.7% ( Figure 3C ).”
2026-11-13 00:54 Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin
A source reports “6.7%” in the context of diabetes metabolic: “Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin A1c 6.7% ( Figure 3C ).”
insight added
2026-11-13 00:54 Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1
A source reports “5 cases” in the context of diabetes metabolic: “Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1.5 Mb with variations from...
2026-11-13 00:54 Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1
A source reports “5 cases” in the context of diabetes metabolic: “Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1.5 Mb with variations from...
insight added
2026-11-13 00:54 At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/
A source reports “17.2%” in the context of diabetes metabolic: “At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/l, HbA1c 17.2%,...
2026-11-13 00:54 At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/
A source reports “17.2%” in the context of diabetes metabolic: “At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/l, HbA1c 17.2%,...
insight added
2026-11-13 00:54 In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%
A source reports “9.9%” in the context of kidney: “In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%).”
2026-11-13 00:54 In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%
A source reports “9.9%” in the context of kidney: “In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%).”
insight added
2026-11-13 00:54 Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin
A source reports “6.9%” in the context of diabetes metabolic: “Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin (total daily dose ~ 11 U/day) for...
2026-11-13 00:54 Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin
A source reports “6.9%” in the context of diabetes metabolic: “Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin (total daily dose ~ 11 U/day) for...
insight added
2026-11-13 00:54 However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin
A source reports “5 patients” in the context of diabetes metabolic: “However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin sensitivity.”
2026-11-13 00:54 However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin
A source reports “5 patients” in the context of diabetes metabolic: “However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin sensitivity.”
insight added
2026-11-13 00:54 Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de
A source reports “45 cases” in the context of kidney: “Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.”
2026-11-13 00:54 Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de
A source reports “45 cases” in the context of kidney: “Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.”
insight added
2026-11-13 00:54 Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
A source reports “127 families” in the context of kidney: “Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.”
2026-11-13 00:54 Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
A source reports “127 families” in the context of kidney: “Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.”
insight added
2026-11-13 00:54 Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of childr
A source reports “10%” in the context of kidney: “Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic...
2026-11-13 00:54 Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of childr
A source reports “10%” in the context of kidney: “Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic...
insight added
2026-11-13 00:54 Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at m
A source reports “45.2%” in the context of growth nutrition: “Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71)...
2026-11-13 00:54 Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at m
A source reports “45.2%” in the context of growth nutrition: “Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71)...
insight added
2026-11-13 00:54 Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly
A source reports “32.0%” in the context of growth nutrition: “Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a...
2026-11-13 00:54 Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly
A source reports “32.0%” in the context of growth nutrition: “Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a...
insight added
2026-11-13 00:54 Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity
A source reports “43.5%” in the context of growth nutrition: “Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity (43.5%; 90/202 Canadians and...
2026-11-13 00:54 Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity
A source reports “43.5%” in the context of growth nutrition: “Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity (43.5%; 90/202 Canadians and...
insight added
2026-11-13 00:54 Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine (
A source reports “35.9%” in the context of neurodevelopment: “Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine ( n = 34, 33.0%), and pediatrics (...
2026-11-13 00:54 Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine (
A source reports “35.9%” in the context of neurodevelopment: “Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine ( n = 34, 33.0%), and pediatrics (...
insight added
2026-11-13 00:54 The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%;
A source reports “61.2%” in the context of neurodevelopment: “The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%; including transition to adult...
2026-11-13 00:54 The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%;
A source reports “61.2%” in the context of neurodevelopment: “The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%; including transition to adult...
insight added
2026-11-13 00:54 Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates
A source reports “60%” in the context of growth nutrition: “Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates of obesity and MetS in the...
2026-11-13 00:54 Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates
A source reports “60%” in the context of growth nutrition: “Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates of obesity and MetS in the...
insight added
2026-11-13 00:54 Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abd
A source reports “95%” in the context of growth nutrition: “Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abdominal obesity, and MetS, using the...
2026-11-13 00:54 Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abd
A source reports “95%” in the context of growth nutrition: “Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abdominal obesity, and MetS, using the...
insight added
2026-11-13 00:54 Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a
A source reports “38.5%” in the context of growth nutrition: “Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a median age of 30 years).”
2026-11-13 00:54 Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a
A source reports “38.5%” in the context of growth nutrition: “Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a median age of 30 years).”
insight added
2026-11-13 00:54 Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies
A source reports “6%” in the context of hepatic: “Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies ( 13 ).”
2026-11-13 00:54 Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies
A source reports “6%” in the context of hepatic: “Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies ( 13 ).”
insight added
2026-11-13 00:54 HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ]
A source reports “75%” in the context of hepatic: “HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ].”
2026-11-13 00:54 HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ]
A source reports “75%” in the context of hepatic: “HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ].”
insight added
2026-11-13 00:54 In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection (
A source reports “89%” in the context of hepatic: “In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection ( Opisthorchis Viverrini ), which accounts for...
2026-11-13 00:54 In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection (
A source reports “89%” in the context of hepatic: “In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection ( Opisthorchis Viverrini ), which accounts for...
insight added
2026-11-13 00:54 They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96
A source reports “84%” in the context of general: “They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96% and 84%, respectively.”
2026-11-13 00:54 They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96
A source reports “84%” in the context of general: “They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96% and 84%, respectively.”
insight added
2026-11-13 00:54 Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 pati
A source reports “10 patients” in the context of hepatic: “Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 patients with cholangiocarcinoma CCA and...
2026-11-13 00:54 Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 pati
A source reports “10 patients” in the context of hepatic: “Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 patients with cholangiocarcinoma CCA and...
insight added
2026-11-13 00:54 Surveillance discussed in 218 sources
218 independent sources mention surveillance in the context of care, surveillance or counseling.
2026-11-13 00:54 Surveillance discussed in 218 sources
218 independent sources mention surveillance in the context of care, surveillance or counseling.
insight added
2026-11-13 00:54 Counseling discussed in 161 sources
161 independent sources mention counseling in the context of care, surveillance or counseling.
2026-11-13 00:54 Counseling discussed in 161 sources
161 independent sources mention counseling in the context of care, surveillance or counseling.
insight added
2026-11-13 00:54 Research discussed in 106 sources
106 independent sources mention research in the context of care, surveillance or counseling.
2026-11-13 00:54 Research discussed in 106 sources
106 independent sources mention research in the context of care, surveillance or counseling.
insight added
2026-11-13 00:54 Therapy discussed in 91 sources
91 independent sources mention therapy in the context of care, surveillance or counseling.
2026-11-13 00:54 Therapy discussed in 91 sources
91 independent sources mention therapy in the context of care, surveillance or counseling.
insight added
2026-11-13 00:54 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 00:54 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
insight added
2026-11-13 00:54 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 00:54 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
insight added
2026-11-13 00:54 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 00:54 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
insight added
2026-11-13 00:54 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 00:54 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
insight added
2026-11-13 00:54 Trial NCT04021199: COMPLETED
Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) — COMPLETED. Sponsor: Université Catholique de Louvain.
2026-11-13 00:54 Trial NCT04021199: COMPLETED
Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) — COMPLETED. Sponsor: Université Catholique de Louvain.
insight added
2026-11-13 00:54 Trial NCT05586594: UNKNOWN
Identifying Maturity-onset Diabetes of the Young in Emirati Patients — UNKNOWN. Sponsor: United Arab Emirates University.
2026-11-13 00:54 Trial NCT05586594: UNKNOWN
Identifying Maturity-onset Diabetes of the Young in Emirati Patients — UNKNOWN. Sponsor: United Arab Emirates University.
insight added
2026-11-13 00:54 Trial NCT04746053: COMPLETED
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — COMPLETED. Sponsor: University Hospital, Toulouse.
2026-11-13 00:54 Trial NCT04746053: COMPLETED
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — COMPLETED. Sponsor: University Hospital, Toulouse.
insight added
2026-11-13 00:54 Trial NCT04239586: UNKNOWN
Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes — UNKNOWN. Sponsor: Haukeland University Hospital.
2026-11-13 00:54 Trial NCT04239586: UNKNOWN
Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes — UNKNOWN. Sponsor: Haukeland University Hospital.
insight added
2026-11-13 00:54 Trial NCT01238250: RECRUITING
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — RECRUITING. Sponsor: Simons Searchlight.
2026-11-13 00:54 Trial NCT01238250: RECRUITING
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — RECRUITING. Sponsor: Simons Searchlight.
insight added
2026-11-13 00:54 Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has been implicated in neuronal progenitor proliferation and expansion of the frontal cortex.
2026-11-13 00:54 Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has been implicated in neuronal progenitor proliferation and expansion of the frontal cortex.
insight added
2026-11-13 00:54 Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
2026-11-13 00:54 Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
insight added
2026-11-13 00:54 Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature
Objectives The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.
2026-11-13 00:54 Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature
Objectives The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.
insight added
2026-11-13 00:54 In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.
2026-11-13 00:54 In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.
insight added
2026-11-13 00:54 Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
2026-11-13 00:54 Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
insight added
2026-11-13 00:54 Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
2026-11-13 00:54 Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
insight added
2026-11-13 00:54 Psychosis of Epilepsy: An Update on Clinical Classification and Mechanism
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
2026-11-13 00:54 Psychosis of Epilepsy: An Update on Clinical Classification and Mechanism
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
insight added
2026-11-13 00:54 The genetic etiologies of bilateral renal agenesis
of the genetic etiologies known to be associated with this condition. Methods: A literature search was conducted as a scoping review employing OMIM, PubMed, and Cochrane to identify cases of BRA with known underlying...
2026-11-13 00:54 The genetic etiologies of bilateral renal agenesis
of the genetic etiologies known to be associated with this condition. Methods: A literature search was conducted as a scoping review employing OMIM, PubMed, and Cochrane to identify cases of BRA with known underlying...
insight added
2026-11-13 00:54 Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the...
2026-11-13 00:54 Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the...
insight added
2026-11-13 00:54 HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
2026-11-13 00:54 HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
insight added
2026-11-13 00:54 Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
2026-11-13 00:54 Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
insight added
2026-11-13 00:54 Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
2026-11-13 00:54 Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
insight added
2026-11-13 00:54 Multiple-testing corrections in selection scans using identity-by-descent segments
statistics [ 45 ]. For instance, some methods clarify that summary statistics a few standard deviations above a genome-wide mean do not have p values [ 22 , 31 ], and equally so, no adjustment for multiple testing.
2026-11-13 00:54 Multiple-testing corrections in selection scans using identity-by-descent segments
statistics [ 45 ]. For instance, some methods clarify that summary statistics a few standard deviations above a genome-wide mean do not have p values [ 22 , 31 ], and equally so, no adjustment for multiple testing.
insight added
2026-11-13 00:54 Clinical Analysis of Congenital Duodenal Obstruction and the Role of Annular Pancreas
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
2026-11-13 00:54 Clinical Analysis of Congenital Duodenal Obstruction and the Role of Annular Pancreas
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
insight added
2026-11-13 00:54 Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
2026-11-13 00:54 Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
insight added
2026-11-13 00:54 Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of...
2026-11-13 00:54 Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of...
insight added
2026-11-13 00:54 Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
2026-11-13 00:54 Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
insight added
2026-11-13 00:54 Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies
Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine.
2026-11-13 00:54 Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies
Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine.
insight added
2026-11-13 00:54 Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid...
2026-11-13 00:54 Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid...
insight added
2026-11-13 00:54 Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
2026-11-13 00:54 Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
insight added
2026-11-13 00:54 A retrospective analysis of prenatal genetic results in fetal hydronephrosis
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
2026-11-13 00:54 A retrospective analysis of prenatal genetic results in fetal hydronephrosis
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
insight added
2026-11-13 00:54 Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease DNAH9 causes complex congenital heart disease
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
2026-11-13 00:54 Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease DNAH9 causes complex congenital heart disease
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
insight added
2026-11-13 00:54 Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social...
2026-11-13 00:54 Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social...
insight added
2026-11-13 00:54 Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).
2026-11-13 00:54 Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).