Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.

Kruis, Tassilo; Klammt, Jürgen; Galli-Tsinopoulou, Assimina; Wallborn, Tillmann; Schlicke, Marina; Müller, Eva; Kratzsch, Jürgen; Körner, Antje; Odeh, Rasha; Kiess, Wieland; Pfäffle, Roland

Kruis, Tassilo; Klammt, Jürgen; Galli-Tsinopoulou, Assimina; Wallborn, Tillmann; Schlicke, Marina; Müller, Eva; Kratzsch, Jürgen; Körner, Antje; Odeh, Rasha; Kiess, Wieland; Pfäffle, Roland.

Affiliation

Kruis T; University Hospital for Children and Adolescents, Liebigstrasse 20a, D-04103 Leipzig, Germany.

J Clin Endocrinol Metab ; 95(3): 1137-42, 2010 Mar.

Article in En | MEDLINE | ID: mdl-20103656

Subject(s)

Failure to Thrive/genetics; Fetal Growth Retardation/genetics; Mutation/genetics; Receptor, IGF Type 1/genetics; Adiponectin/blood; Blotting, Western; Cells, Cultured; Diabetes Mellitus, Type 2/genetics; Enzyme-Linked Immunosorbent Assay; Female; Genetic Association Studies; Heterozygote; Humans; Infant, Newborn; Infant, Small for Gestational Age; Insulin-Like Growth Factor I/metabolism; Microcephaly/genetics; Pedigree; Phosphorylation; Receptor, IGF Type 1/metabolism; Signal Transduction/genetics; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptor, IGF Type 1 / Failure to Thrive / Fetal Growth Retardation / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 2010 Document type: Article Affiliation country: Germany Country of publication: United States

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