Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal
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
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
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
Amaratunga SA et al.
Diabetologia, 2024
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
Takeuchi T et al.
Journal of Diabetes Investigation, 2020
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J et al.
Diabetes, 2017
Bartter-like syndrome in patients with molecular defects of the insulin receptor gene.
Watanabe T et al.
Acta Diabetologica, 2014
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
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney.
Abe Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
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