SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature. - Wikidata - wikimedia - TriplyDB

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.

http://www.wikidata.org/entity/Q37649511

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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature A Track Record on SHOX: From Basic Research to Complex Models and Therapy Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.Prevalence of SHOX haploinsufficiency among short statured children.Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

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SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.

http://www.wikidata.org/entity/Q37649511

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 14 October 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

SHOX gene and conserved noncod ...... with idiopathic short stature.

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SHOX gene and conserved noncod ...... with idiopathic short stature.

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type

label

SHOX gene and conserved noncod ...... with idiopathic short stature.

@en

SHOX gene and conserved noncod ...... with idiopathic short stature.

@nl

prefLabel

SHOX gene and conserved noncod ...... with idiopathic short stature.

@en

SHOX gene and conserved noncod ...... with idiopathic short stature.

@nl

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Molecular genetics & genomic medicine

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SHOX gene and conserved noncod ...... with idiopathic short stature.

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Camila Cespedes

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Giovanna Carola Jaimes

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Gloria Tatiana Vinasco Sandoval

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Harvy Mauricio Velasco

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Mauricio Coll Barrios

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P2860

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

High incidence of SHOX anomalies in individuals with short stature.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Idiopathic short stature: definition, epidemiology, and diagnostic evaluation.

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95-102

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scholarly article

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10.1002/MGG3.39

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2

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2

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261258473

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24689071

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3960050

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