Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation
Ocaranza P et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.
Walenkamp MJE et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Novel polymorphisms of the IGF1R gene and their association with average daily gain in Egyptian buffalo (Bubalus bubalis).
El-Magd MA et al.
Domestic Animal Endocrinology, 2013
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ et al.
Endocrine Development, 2013
IGF receptor gene variants in normal adolescents: effect on stature.
Kansra AR et al.
European Journal of Endocrinology, 2012
Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).
Fang P et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
[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
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
IGF1R mutations as cause of SGA.
Klammt J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
Ester WA et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
Fang P et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Single gene mutations causing SGA.
Walenkamp MJ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2008
A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.
Inagaki K et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
Walenkamp MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.
Raile K et al.
The Journal of Clinical Endocrinology and Metabolism, 2006