Associated Papers
Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.
Yoshiji S et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
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
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.
Amaral S et al.
Diabetology & Metabolic Syndrome, 2023
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H et al.
Prenatal Diagnosis, 2016
Diabetes Mellitus With Renal and Müllerian Anomalies.
Agarwal K et al.
Aace Clinical Case Reports, 0
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