Associated Papers
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Saint-Martin C et al.
Diabetes, 2022
Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience.
Passanisi S et al.
Diabetology & Metabolic Syndrome, 2021
A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.
Gaál Z et al.
Life (basel, Switzerland), 2021
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.
Giuffrida FMA et al.
Diabetes Research and Clinical Practice, 2017
PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects.
Sujjitjoon J et al.
Journal of Human Genetics, 2016
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK et al.
Human Mutation, 2009
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.
Lukášová P et al.
Physiological Research, 2008
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
Functional characterization of hepatocyte nuclear factor-4 alpha dimerization interface mutants.
Aggelidou E et al.
The Febs Journal, 2006
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