Associated Papers
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Płoszaj T et al.
Acta Diabetologica, 2026
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
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Saint-Martin C et al.
Diabetes, 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
Sethi A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Arg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report.
Ding Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020
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
Hypoglycaemia revealing heterozygous insulin receptor mutations.
Preumont V et al.
Diabetes & Metabolism, 2017
Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.
Mahmud Z et al.
Biomed Research International, 2016
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: report of two cases.
Kuroda Y et al.
Endocrine Journal, 2015
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
Grasso V et al.
Acta Diabetologica, 2013
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