Associated Papers
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
Identification of a novel mutation in patients with type A insulin resistance syndrome.
Zhao L et al.
Human Heredity, 2022
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Hosoe J et al.
Diabetes Research and Clinical Practice, 2020
Coexistence of ovarian serous papillary cystadenofibroma and type A insulin resistance syndrome in a 14-year-old girl: A case report.
Yan FF et al.
World Journal of Clinical Cases, 2020
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
Takeuchi T et al.
Journal of Diabetes Investigation, 2020
Type A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report.
Lin L et al.
Journal of Medical Case Reports, 2019
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
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
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: report of two cases.
Kuroda Y et al.
Endocrine Journal, 2015
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
Select a paper to view details