Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
about
Insulin-like growth factors in embryonic and fetal growth and skeletal development (Review)Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutationKnockout of insulin-like growth factor-1 receptor impairs distal lung morphogenesisA novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotypeSotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway.A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.IGF-1 and bone: New discoveries from mouse modelsAn XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear GrowthNovel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short statureExpanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.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).Mechanisms of Mendelian dominance.Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].IGF1R Gene Alterations in Small for Gestational Age (SGA) Children.
P2860
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P2860
Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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name
Familial short stature caused ...... senger ribonucleic acid decay.
@en
Familial short stature caused ...... senger ribonucleic acid decay.
@nl
type
label
Familial short stature caused ...... senger ribonucleic acid decay.
@en
Familial short stature caused ...... senger ribonucleic acid decay.
@nl
prefLabel
Familial short stature caused ...... senger ribonucleic acid decay.
@en
Familial short stature caused ...... senger ribonucleic acid decay.
@nl
P2093
P356
P1476
Familial short stature caused ...... senger ribonucleic acid decay.
@en
P2093
Betty D Johnson
I David Schwartz
Michael A Derr
Ron G Rosenfeld
Vivian Hwa
P304
P356
10.1210/JC.2008-1903
P407
P577
2009-02-24T00:00:00Z