Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration.
Kawashima-Sonoyama Y et al.
Endocrine Journal, 2024
Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.
Kawashima-Sonoyama Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.
Hosoe J et al.
Diabetes, 2021
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
IGF1R Gene Alterations in Small for Gestational Age (SGA) Children.
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
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