17q12 Knowledge Basedeletion syndrome · static snapshot
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New findings

Everything the analysis engine concluded from the corpus: new publications, sources that changed, gene–trait links, reported figures, care recommendations and contradicting evidence. Each card shows how many independent sources support it and links to the exact sentence.

Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

today
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

today
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

today
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

today
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

today
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

today
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

today
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

today
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

today
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

today
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

today
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

today
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

today
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

today
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

today
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

today
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

today
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

today
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

today
Contradicting evidence kidney and urinary tract conf 97%

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 = 0.836, Supplementary Figure S4 b).”

yesterday
Contradicting evidence kidney and urinary tract conf 97%

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 kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...

yesterday
Contradicting evidence kidney and urinary tract conf 97%

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 that the cystic renal phenotype was not associated with decreased expression of the cystic disease...

yesterday
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

yesterday
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

yesterday
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

yesterday
Contradicting evidence Research frontier conf 97%

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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

yesterday
Contradicting evidence kidney and urinary tract conf 97%

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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

yesterday
Contradicting evidence kidney and urinary tract conf 97%

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 more suggestive of an HNF1B -related disorder.”

yesterday