Associated Papers
Genealogical Rabson-Mendenhall syndrome caused by INSR gene mutation.
Yuan X et al.
American Journal of Physiology. Endocrinology and Metabolism, 2025
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
Metabolic and hormonal profiling in polycystic ovarian syndrome: insights into INSR gene variations.
Rasheed RA et al.
Molecular Biology Reports, 2024
Treatment and five-year follow-up of type A insulin resistance syndrome: A case report.
Chen YH et al.
World Journal of Clinical Cases, 2022
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Kim JH et al.
Bmc Pediatrics, 2021
Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.
Zhou Q et al.
Frontiers in Endocrinology, 2021
Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.
Innaurato S et al.
Pediatric Diabetes, 2018
Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.
Wei C et al.
Pediatric Diabetes, 2017
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
Choi JH et al.
Hormone Research in Paediatrics, 2015
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