Phenotype expansion
kidney and urinary tract
conf 97%
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 intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 the genetic mutation spectrum of this condition.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 subtypes of epilepsies.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 epilepsy-related GATOR1 variants by Baldassari et al.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 with ASD, heart defects, biliary tract dysfunction, and obesity.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
Research frontier
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 brain, cerebellum, kidneys and genitourinary system, gastrointestinal system, skeleton, diaphragm...
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 and urinary tract development.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 disorders and those recently initiated on novel ASMs.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 the onset and progression of psychotic symptoms in epilepsy patients and are anticipated to inform...
yesterday
Phenotype expansion
Research frontier
conf 97%
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 neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with...
yesterday
Phenotype expansion
Research frontier
conf 97%
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 neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 relationship with annular pancreas.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 kidney disease.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 interruption syndrome and consequent hypopituitarism.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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) and a final diagnosis of 17q12 deletion syndrome (including the HNF1β gene).”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 compound heterozygote for a paternally inherited frameshift and a maternally inherited missense variant...
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
A source describes a new or expanded observation: “Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
A source describes a new or expanded observation: “Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 pathogenic mechanism of ASD.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 uterus) who presented with difficulty inserting tampons and menstrual cups.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 to the potential for phenotypic expansion for known and yet-to-be-identified developmental disorders.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 with urinary tract malformations.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 genes, providing mechanistic and therapeutic insights into a novel Filipino-patient derived lung cancer...
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 cancer-related genes.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 .”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 without hypoplasia of pons and vermis ( CYB5R3 ), cerebellar atrophy ( MTM1 ), progressive cerebellar...
yesterday
Phenotype expansion
Research frontier
conf 97%
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 10 gene categories.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 lines, using cDNA microarrays measuring approximately 26,000 human genes (thereby providing an...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “We describe the first example of a recurrent genomic disorder associated with diabetes.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 of BE to EAC.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
A source describes a new or expanded observation: “Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 at 17q12, and one case of a distal 22q11.2 microdeletion.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 17q12 tandem duplication of ~1.4 Mb from his healthy father.”
yesterday
Phenotype expansion
Research frontier
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 disability (ID), serious speech delay and autistic features.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 difficulties.”
yesterday
Phenotype expansion
Research frontier
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 progression and metastasis and may constitute novel candidates for metastasis diagnosis and therapy.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
A source describes a new or expanded observation: “Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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," Fertility and Sterility 94, no.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 Biology 308 (2025): 6-14.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 Hypodysplasia/Aplasia‐3," Orphanet Journal of Rare Diseases 17, no.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 Sciences of the United States of America 117, no.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 consisting of cirrhosis, diabetes, and skin pigmentation (so-called "bronze diabetes").”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 nonetheless, evidence that initiation of phlebotomy before the development of cirrhosis and/or diabetes...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 nonetheless, evidence that initiation of phlebotomy before the development of cirrhosis and/or diabetes...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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).”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 metabolic disorders(11).”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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, contributing to the core pathological processes of CKD-including glomerulosclerosis, programmed death of...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 insights into its role in renal lipid metabolic regulation.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 cholesterol uptake, which may represent a novel mechanism for renal lipotoxicity protection.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 therefore in the development of the female reproductive system.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 analysis in a subset of them.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 chromosome 17q12.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 maternal hyperglycemia during pregnancy or underlying metabolic syndrome, may influence disease...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 MODY-related genes, with more than 600 distinct variants described worldwide [ 32 , 38 ].”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 reported our experience in the diagnosis and treatment of such conditions.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 novel pathogenic variants identified in a Turkish cohort.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
A source describes a new or expanded observation: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 prevalence of rare MODY subtypes.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 ].”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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.”
yesterday
Phenotype expansion
Research frontier
conf 97%
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 ToppGene Suite can complement these existing approaches by applying novel methods that mine mouse...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 evolution to cystic changes among unsuspected prenatal cases.”
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 sequentially in Patient 3.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 regulatory mechanisms of MIEN1 remain largely unknown.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
A source describes a new or expanded observation: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 behavior problems, psychiatric symptoms.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 evolve to social phobia in their growth.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
A source describes a new or expanded observation: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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): a case report and review of the literature.”
yesterday
Phenotype expansion
learning, speech and behaviour
conf 97%
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 recessive primary microcephaly, highlighting the value of early sampling combined with...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.”
yesterday
Phenotype expansion
Signs & symptoms
conf 97%
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 in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 individuals to glucose intolerance or frank diabetes in later life, often classified as Maturity-Onset...
yesterday
Phenotype expansion
kidney and urinary tract
conf 97%
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 insulin replacement to disease-modifying therapy [ 43 ].”
yesterday