Associated Papers
Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.
Badonyi M et al.
Nature Communications, 2025
Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism
Çelik NB et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.
Hosoe J et al.
Diabetes, 2021
A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.
Göpel E et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Cabrera-Salcedo C et al.
Hormone Research in Paediatrics, 2019
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.
Rotwein P
The Journal of Biological Chemistry, 2017
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ et al.
Endocrine Development, 2013
[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].
Leal Ade C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.
Pfäffle R et al.
Pediatric Endocrinology Reviews : Per, 2011
IGF1R mutations as cause of SGA.
Klammt J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
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