Associated Papers
Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.
Buhur Pirimoglu M et al.
Irish Journal of Medical Science, 2025
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 2025
40925988 (PubMed )
Supplement: 42255_2025_1372_MOESM1_ESM.pdf
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
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 2021
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd MH et al.
Diabetologia, 2018
30229274 (PubMed )
Supplement: 125_2018_4728_MOESM1_ESM.pdf
Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
Bacon S et al.
Acta Diabetologica, 2016
[Monogenic form of diabetes mellitus due to HNF4α mutation (MODY-1) - the first case in Hungary].
Jermendy G et al.
Orvosi Hetilap, 2016
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.
Colclough K et al.
Human Mutation, 2013
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