Associated Papers
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.
Ivanoshchuk D et al.
Journal of Personalized Medicine, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.
Abreu GM et al.
Frontiers in Endocrinology, 2022
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2021
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.
Cheon CK et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
Zubkova N et al.
Acta Diabetologica, 2019
Importance of polymorphic variants of Tumour Necrosis Factor - α gene in the etiology of Intrauterine Growth Restriction.
Kaluba-Skotarczak A et al.
Ginekologia Polska, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.
Šimčíková D et al.
Scientific Reports, 2017
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.
Caetano LA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations.
Yokota I et al.
Endocrine Journal, 2011
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
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
Lorini R et al.
Diabetes Care, 2009
G/A polymorphism at -258 of the hepatic glucokinase promoter is not associated with decreased birth weight in preterm neonates.
Pawlowski M et al.
Neonatology, 2008
Hyperinsulinism in infancy: from basic science to clinical disease.
Dunne MJ et al.
Physiological Reviews, 2004
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Human Mutation, 2003
Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood.
Hui H et al.
European Journal of Endocrinology, 2002
Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young.
Baroni MG et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.
Guazzini B et al.
Human Mutation, 1998