Network of European studies of genes in growth (NESTEGG).

Hormone research Pub Date : 2009-04-01 Epub Date: 2009-04-29 DOI:10.1159/000192436
Linda B Johnston, Wiestske Ester, Janina Caliebe, Catherine Molinas, Hartmut Wollmann, Linda Fryklund, Adrian J Clark, Michael B Ranke, Maithe Tauber, Anita Hokken Koelega, Martin O Savage
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引用次数: 1

Abstract

The network of European studies of genes in growth (NESTEGG) is an international growth genomics project, focusing on the birth size phenotypes of small for gestational age (SGA) and idiopathic short stature. Seven hundred controls and 1,275 cases with their parents have been recruited. Detailed clinical histories and auxological measurements are recorded in a clinical database. Candidate gene studies are being undertaken with the study DNA samples. These genetic data will be used to explore associations with the clinical phenotypes of short stature and SGA birth size, and, in a subset, response to growth hormone (GH) therapy. This article describes the study methodology and reviews the association of the exon 3-deleted genotype of the GH receptor with GH responsiveness in GH-treated children born SGA.

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欧洲生长基因研究网络(NESTEGG)。
欧洲生长基因研究网络(NESTEGG)是一个国际生长基因组学项目,重点研究胎龄小(SGA)和特发性身材矮小的出生尺寸表型。研究人员招募了700名对照组和1275名与其父母一起的病例。详细的临床病史和生理测量记录在临床数据库中。候选基因研究正在利用研究的DNA样本进行。这些遗传数据将用于探索与矮小身材和SGA出生尺寸的临床表型的关联,以及在一个子集中,对生长激素(GH)治疗的反应。本文介绍了研究方法,并回顾了GH治疗后出生的SGA儿童中GH受体外显子3缺失基因型与GH反应性的关系。
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Hormone research
Hormone research 医学-内分泌学与代谢
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Growth hormone therapy in Noonan syndrome: growth response and characteristics. GH therapy in Noonan syndrome: Review of final height data. Growth hormone and the heart in Noonan syndrome. Response to growth hormone in short children with Noonan syndrome: correlation to genotype. Genetic and pathogenetic aspects of Noonan syndrome and related disorders.
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