Associated Papers
GCK Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis.
Su C et al.
Pediatric Health, Medicine and Therapeutics, 2025
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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
36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members
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
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
28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf
Undiagnosed MODY: Time for Action.
Kleinberger JW et al.
Current Diabetes Reports, 2015
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G et al.
Molecular Genetics and Metabolism, 2014
Glucokinase gene mutations (MODY 2) in Asian Indians.
Kanthimathi S et al.
Diabetes Technology & Therapeutics, 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
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.
Gozlan Y et al.
Pediatric Diabetes, 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
Stress hyperglycemia: a sign of familial diabetes in children.
Oron T et al.
Pediatrics, 2011
Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.
Stern E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007
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