Associated Papers
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Sriram A et al.
Diabetes, 2025
A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.
Wang J et al.
Frontiers in Endocrinology, 2025
A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6.
Li Y et al.
Journal of Diabetes, 2024
Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Li M et al.
Reviews in Endocrine & Metabolic Disorders, 2023
A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
Murphy R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families.
Bawatneh A et al.
Frontiers in Genetics, 2023
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.
Aarthy R et al.
Journal of Diabetes and Its Complications, 2021
The first case of NEUROD1-MODY reported in Latin America.
Abreu GM et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).
Horikawa Y et al.
Current Diabetes Reports, 2019
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features.
Horikawa Y et al.
Pediatric Diabetes, 2018
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.
Szopa M et al.
European Journal of Medical Genetics, 2016
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