Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
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
Diagnosis and management of disorders of IGF-I synthesis and action.
Wit JM
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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