about
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutationCopy number variants in short children born small for gestational age.Critical periods of increased fetal vulnerability to a maternal high fat diet.The role of insulin-like growth factor-I in the physiopathology of hearing.High fat diet induced insulin resistance and glucose intolerance are gender-specific in IGF-1R heterozygous mice.Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.Copy number variants in patients with short stature.Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.Materno-foetal leptin and insulin-like growth factor in low birth weight neonates.A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.An essential role for IGF2 in cartilage development and glucose metabolism during postnatal long bone growth.The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.Insulin-like growth factors: actions on the skeleton.Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
IGF1R mutations as cause of SGA.
@en
IGF1R mutations as cause of SGA.
@nl
type
label
IGF1R mutations as cause of SGA.
@en
IGF1R mutations as cause of SGA.
@nl
prefLabel
IGF1R mutations as cause of SGA.
@en
IGF1R mutations as cause of SGA.
@nl
P1476
IGF1R mutations as cause of SGA.
@en
P2093
P304
P356
10.1016/J.BEEM.2010.09.012
P577
2011-02-01T00:00:00Z