Condition: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)


rs1172328722 in HNF1A gene and MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) PMID 12488961 2002 High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.

PMID 10078571 1999 Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

PMID 9097962 1997 Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

PMID 20132997 2010 Three novel mutations in MODY and its phenotype in three different Czech families.

PMID 10754480 2000 Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

PMID 12453976 2002 Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.

PMID 25414397 2014 Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

PMID 9439666 1997 A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.

PMID 11272211 2001 beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

PMID 18003757 2008 The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

PMID 9075818 1997 Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.