Associated Papers
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
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Jacobs A et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).
Janchevska A et al.
Open Access Macedonian Journal of Medical Sciences, 2018
IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.
Yang L et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
IGF1R Gene Alterations in Small for Gestational Age (SGA) Children.
Janchevska A et al.
Open Access Macedonian Journal of Medical Sciences, 2018
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ et al.
Endocrine Development, 2013
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
An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree.
Mohn A et al.
Hormone Research in Paediatrics, 2011
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