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Copy number variants in patients with short stature
(Nature Publishing Group, 2014)
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about ...
Cytoplasmic and nuclear STAT3 in GH-stimulated fibroblasts of children with idiopathic short stature
(2010)
Background: STAT5, which plays an important role in GH signal transduction, has been studied extensively in children with growth retardation, but there is scarce information regarding STAT3. Aim: We determined total and ...
Ghrelin plasma levels in patients with idiopathic short stature
(2011)
Background: Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short ...
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature
(Wiley, 2015)
Based on the observation of reduced stature
in relatives of patients with acromesomelic dysplasia,
Maroteaux type (AMDM), caused by homozygous or
compound heterozygous mutations in natriuretic peptide
receptor-B gene ...
Growth hormone treatment in children with idiopathic short stature: correlation of growth response with peripheral thyroid hormone action
(Wiley Blackwell Publishing, Inc, 2011-03)
Idiopathic short stature (ISS) describes short children with normal GH secretion. Although GH treatment increases their heights, growth response to the therapy differs among patients. Thyroid hormones (TH) are essential ...
Trends in nutritional status and stature among school-age children in Chile
(2004)
Objective We studied the prevalence of weight excess and short stature among school-age children in Chile over the past decade. Methods We designed a descriptive cross-sectional, school-based study to analyze nutritional ...
The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation
(Research Trends, 2016-12)
SHOX gene (short stature homeobox-containing gene) deficiency is related to a diversity of clinical conditions such as Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature, all characterized by growth ...
Expression of SOCS1, SOCS2, and SOCS3 in growth hormone-stimulated skin fibroblasts from children with idiopathic short stature
(2012)
Background/aim: Possible etiologies of idiopathic short stature (ISS) include a range of conditions, some of which may be caused by defects in the modulation of the growth hormone (GH)-signaling pathway. The Janus kinase/signal ...
An illustrative case of Leri-Weill dyschondrosteosis
(Soc Brasil GeneticaRibeirao PretBrasil, 2008)