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
Genetic causes of growth hormone insensitivity beyond GHR.
Hwa V et al.
Reviews in Endocrine & Metabolic Disorders, 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
IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).
Janchevska A et al.
Open Access Macedonian Journal of Medical Sciences, 2018
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
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
Gannagé-Yared MH et al.
European Journal of Endocrinology, 2013
Diagnosis and management of disorders of IGF-I synthesis and action.
Wit JM
Pediatric Endocrinology Reviews : Per, 2011
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