Associated Papers
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Yarali O et al.
Molecular Syndromology, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
De Sousa SMC et al.
Acta Diabetologica, 2024
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 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
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
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
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y et al.
Endocrine Connections, 2020
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population.
Ma Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.
Wędrychowicz A et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.
Szopa M et al.
Polskie Archiwum Medycyny Wewnetrznej, 2015
Clinical utility gene card for: Maturity-onset diabetes of the young.
Colclough K et al.
European Journal of Human Genetics : Ejhg, 2014
Population-based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY.
Fendler W et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2014
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
A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
Giuffrida FM et al.
Diabetes Research and Clinical Practice, 2013
Ancestral mutations may cause a significant proportion of GCK-MODY.
Dusatkova P et al.
Pediatric Diabetes, 2012
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
Borowiec M et al.
Clinical Genetics, 2012
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Valentínová L et al.
Plos One, 2012
HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults.
Fendler W et al.
Clinical Endocrinology, 2011
The influence of dietary carbohydrate content on glycaemia in patients with glucokinase maturity-onset diabetes of the young.
Klupa T et al.
The Journal of International Medical Research, 2011
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
Pruhova S et al.
Pediatric Diabetes, 2010
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
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
Thomson KL et al.
Human Mutation, 2003
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.
Pruhova S et al.
Diabetologia, 2003