|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
|
29927023 |
2018 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
|
25536396 |
2015 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.
|
25700310 |
2015 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
|
25441779 |
2015 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
|
24897035 |
2014 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
|
20378641 |
2010 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
|
15930087 |
2006 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
|
16249435 |
2005 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
|
16249435 |
2005 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.
|
14583183 |
2004 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.
|
15001636 |
2004 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
|
15068978 |
2004 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
|
15181075 |
2004 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.
|
15660195 |
2004 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
|
15068978 |
2004 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
|
11918730 |
2002 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.
|
11845238 |
2002 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.
|
10672455 |
2000 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
|
10484768 |
1999 |
|
Renal cysts and diabetes syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|