Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age:in vitrocharacterization of a novel mutation (p.Arg511Trp)

Mutações no gene do receptor do fator de crescimento insulina-símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal

(2012) Andréa de Castro Leal et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation

(2012) Yuki Kawashima et al.   CLINICAL ENDOCRINOLOGY

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11

(2011) Luciana R Montenegro et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

An Insulin-Like Growth Factor-I Receptor Defect Associated with Short Stature and Impaired Carbohydrate Homeostasis in an Italian Pedigree

(2011) A. Mohn et al.   Hormone Research in Paediatrics

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

(2011) Peng Fang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

(2010) Tillmann Wallborn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

(2010) Tassilo Kruis et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

(2009) Wietske A. Ester et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

(2009) Peng Fang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM