Associated Papers
Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.
Pliszka M et al.
International Journal of Molecular Sciences, 2025
Rabson-Mendenhall Syndrome: Analysis of the Clinical Characteristics and Gene Mutations in 42 Patients.
Gong W et al.
Journal of the Endocrine Society, 2024
Case report: A case of Rabson-Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin.
Foglino R et al.
Frontiers in Genetics, 2024
38978877 (PubMed )
Supplement: Table1.XLSX › Foglio1
Thyroid Abnormalities in Patients With Extreme Insulin Resistance Syndromes.
Kushchayeva YS et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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
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
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
Metreleptin improves blood glucose in patients with insulin receptor mutations.
Brown RJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Kim D et al.
Journal of Korean Medical Science, 2012
Differentiated Thyroid Cancer in Severe Insulin Resistance.
Kushchayeva Y et al.
Aace Endocrinology and Diabetes, 0
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