17q12 Kennisbankdeletion syndrome · static snapshot
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Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

vandaag
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

vandaag
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

gisteren
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

gisteren
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

Een bron rapporteert geen verband of een negatieve bevinding: “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...

gisteren
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

gisteren
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

gisteren
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

gisteren
Tegenstrijdig bewijs Onderzoeksgrens conf 97%

Let op: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

Een bron rapporteert geen verband of een negatieve bevinding: “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).”

gisteren
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

gisteren
Tegenstrijdig bewijs nieren en urineleider conf 97%

Let op: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…

Een bron rapporteert geen verband of een negatieve bevinding: “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.”

gisteren