Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.
Pliszka M et al.
International Journal of Molecular Sciences, 2025
Insulin receptor variants: Extending the traditional Mendelian spectrum.
Collin-Chavagnac D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene.
You W et al.
Frontiers in Endocrinology, 2022
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
Takasawa K et al.
Journal of Diabetes, 2019
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2014
Genotype-phenotype correlation in inherited severe insulin resistance.
Longo N et al.
Human Molecular Genetics, 2002
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