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
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf
Composite Digenic Diabetes Linked to Heterozygous Variants of <italic>GCK</italic> and <italic>NEUROD1</italic>: A Case Report.
Rapini N et al.
Hormone Research in Paediatrics, 2025
Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.
Ruiz-Urbaez R et al.
Frontiers in Medicine, 2025
Diabetic Ketoacidosis in Patients with Maturity-Onset Diabetes of the Young.
Müssig K
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2024
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
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
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL22
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
Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).
Horikawa Y et al.
Current Diabetes Reports, 2019
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
Demirbilek H et al.
Pediatric Diabetes, 2018
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features.
Horikawa Y et al.
Pediatric Diabetes, 2018
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
Shields BM et al.
Diabetes Care, 2017
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.
Rubio-Cabezas O et al.
Diabetes, 2010
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