Condition: Renal cysts and diabetes syndrome


rs1057517744 in HNF1B gene and Renal cysts and diabetes syndrome PMID 27234567 2016 Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

PMID 21380624 2011 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

PMID 25536396 2015 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

PMID 15930087 2006 Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PMID 15068978 2004 Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PMID 24897035 2014 The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

PMID 16249435 2005 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.

PMID 25700310 2015 A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

PMID 11085914 2001 Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.

PMID 17878605 2007 In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation.

PMID 12161522 2002 Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.

PMID 15181075 2004 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.

PMID 11845238 2002 Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

PMID 15001636 2004 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.

PMID 14583183 2004 Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

PMID 10484768 1999 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.

PMID 11918730 2002 Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

PMID 10672455 2000 Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

PMID 25441779 2015 Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.

PMID 20378641 2010 Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

PMID 15660195 2004 Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.

PMID 29927023 2018 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.

PMID 11317673 2001 Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.

PMID 12675839 2003 Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

PMID 19389850 2009 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

PMID 26319241 2016 Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

PMID 25500806 2015 Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.

PMID 15509593 2004 HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

PMID 26417411 2015 These results suggest that these R177X mutant messenger ribonucleic acids are disrupted by nonsense-mediated messenger ribonucleic acid decay in MODY-iPS cells during the developmental stages of pancreatic β-cells.

PMID 12148114 2002 Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.

PMID 9398836 1997 Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

PMID 30259503 2019 The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

PMID 24429398 2014 Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

PMID 26669242 2016 Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.

PMID 16371430 2006 Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

rs113042313 in HNF1B;LOC105371754 gene and Renal cysts and diabetes syndrome PMID 11845238 2002 Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

PMID 10672455 2000 Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

PMID 10484768 1999 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.

PMID 15001636 2004 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.

PMID 11918730 2002 Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

PMID 14583183 2004 Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

PMID 15181075 2004 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.

PMID 15930087 2006 Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PMID 15068978 2004 Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PMID 16249435 2005 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.

PMID 19389850 2009 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

PMID 11562418 2001 Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.

PMID 25700310 2015 A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

PMID 21380624 2011 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

PMID 25536396 2015 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

rs1057519371 in LOC105371754;HNF1B gene and Renal cysts and diabetes syndrome PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs193922482 in LOC107985009;HNF1B gene and Renal cysts and diabetes syndrome PMID 29207974 2017 Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.