Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

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

(2012) Yuki Kawashima et al.   CLINICAL ENDOCRINOLOGY

IGF1R mutations as cause of SGA

(2011) J. Klammt et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

Clinical and Functional Characteristics of a Novel Heterozygous Mutation of theIGF1RGene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure

(2010) Jin-Ho Choi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Insulin Receptor Isoforms and Insulin Receptor/Insulin-Like Growth Factor Receptor Hybrids in Physiology and Disease

(2009) Antonino Belfiore et al.   ENDOCRINE REVIEWS

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

Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated withIGF1Mutation Demonstrates Its Critical Role in Growth and Brain Development

(2009) Irène Netchine 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

Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2->qter Deletion Detected by Multiplex Ligation Probe Amplification

(2008) Marie J. E. Walenkamp et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM