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
Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.
Hosoe J et al.
Diabetes, 2021
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K et al.
Nature Communications, 2021
33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6
A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes.
Shapiro MR et al.
Hormone Research in Paediatrics, 2020
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
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
Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.
Juanes M et al.
Clinical Endocrinology, 2015
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).
Leal AC et al.
Clinical Endocrinology, 2013
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