Associated Papers
Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.
Ba T et al.
Journal of Diabetes, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
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
MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
Hasballa I et al.
International Journal of Molecular Sciences, 2024
Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY
Çelik NB et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 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
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.
Sampathkumar G et al.
Journal of Endocrinological Investigation, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Bharadwaj T et al.
European Journal of Human Genetics : Ejhg, 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
Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism.
Soltani Asl M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
The first case of NEUROD1-MODY reported in Latin America.
Abreu GM et al.
Molecular Genetics & Genomic Medicine, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Predicting disease-causing variant combinations.
Papadimitriou S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).
Horikawa Y et al.
Current Diabetes Reports, 2019
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Mohan V et al.
Bmc Medical Genetics, 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
Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.
Chapla A et al.
Clinical Endocrinology, 2015
Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.
Gonsorcíková L et al.
Pediatric Diabetes, 2008
Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.
Pande AR et al.
Indian Journal of Endocrinology and Metabolism, 0