A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
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3' end mRNA processing: molecular mechanisms and implications for health and diseaseInsulin-like growth factors in embryonic and fetal growth and skeletal development (Review)Insulin-like growth factor 1 has multisystem effects on foetal and preterm infant developmentSerum Insulin-like Growth Factor I Quantitation by Mass Spectrometry: Insights for Protein Quantitation with this TechnologyApplication of insulin-like growth factor-1 in the treatment of inner ear disordersNeurodevelopmental effects of insulin-like growth factor signaling.Insulin receptor substrate 2 (IRS2)-deficient mice show sensorineural hearing loss that is delayed by concomitant protein tyrosine phosphatase 1B (PTP1B) loss of functionTranscriptomic analysis of the zebrafish inner ear points to growth hormone mediated regeneration following acoustic traumaA novel spontaneous mutation of Irs1 in mice results in hyperinsulinemia, reduced growth, low bone mass and impaired adipogenesis.RNA microarray analysis in prenatal mouse cochlea reveals novel IGF-I target genes: implication of MEF2 and FOXM1 transcription factors.POTENTIAL NON-GROWTH USES OF rhIGF-IA comparative study of age-related hearing loss in wild type and insulin-like growth factor I deficient mice.Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.A randomized controlled clinical trial of topical insulin-like growth factor-1 therapy for sudden deafness refractory to systemic corticosteroid treatment.Childhood hearing is associated with growth rates in infancy and adolescence.Polymorphisms in the insulin-like growth factor axis are associated with gastrointestinal cancer.The role of insulin-like growth factor-I in the physiopathology of hearing.Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.IGF-1 and bone: New discoveries from mouse modelsGrowth hormone, insulin-like growth factor-1 and the aging brain.The role of IGF-1 for fracture risk in men.Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear GrowthGrowth hormone insensitivity syndrome: A sensitive approach.Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.Hormonal regulation of fetal growth.Genetic variations and normal fetal growth.Genetic disorders in the growth hormone - insulin-like growth factor-I axis.The insulin-like growth factor system in bone: basic and clinical implications.The Regulation of IGF-1 Gene Transcription and Splicing during Development and Aging.Alterations in polyadenylation and its implications for endocrine disease.A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production.Insulin-like growth factor I (IGF-I)-induced chronic gliosis and retinal stress lead to neurodegeneration in a mouse model of retinopathyThe role of liver-derived insulin-like growth factor-I.A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.Genomic analysis of primordial dwarfism reveals novel disease genes.Acute rejection of white adipose tissue allograft.Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.Pregnancy-associated plasma protein (PAPP)-A expressed in the mammary gland controls epithelial cell proliferation and differentiation.Insulin-like growth factor-II: new roles for an old actor.Aberrant folding of a mutant Stat5b causes growth hormone insensitivity and proteasomal dysfunction.
P2860
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P2860
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
description
2003 nî lūn-bûn
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2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
@en
A novel mutation in a patient with insulin-like growth factor 1
@nl
type
label
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
@en
A novel mutation in a patient with insulin-like growth factor 1
@nl
prefLabel
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
@en
A novel mutation in a patient with insulin-like growth factor 1
@nl
P2093
P356
P1476
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
@en
P2093
Bonapace G
Concolino D
Formicola S
Strisciuglio P
P304
P356
10.1136/JMG.40.12.913
P407
P577
2003-12-01T00:00:00Z