SHOX mutations detected by FISH and direct sequencing in patients with short stature.

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

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http://www.wikidata.org/entity/Q43074314
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells.Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.SHOX at a glance: from gene to protein.A Track Record on SHOX: From Basic Research to Complex Models and TherapyInvestigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish.Prevalence of SHOX haploinsufficiency among short statured children.Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studiesDuplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureShort stature homeoboxcontaining gene and idiopathic short stature
P2860

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

Item
http://www.wikidata.org/entity/Q43074314
description
2003 nî lūn-bûn
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2003年の論文
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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
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2003年學術文章
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2003年學術文章
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name
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@en
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@nl
type
label
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@en
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@nl
prefLabel
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@en
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P932