Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
about
A review of trisomy X (47,XXX)Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cellsThe SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genomeOTEX, an androgen-regulated human member of the paired-like class of homeobox genesSHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb developmentSHOX mutations in dyschondrosteosis (Leri-Weill syndrome)A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.A new look at XXYY syndrome: medical and psychological featuresThe Human Pseudoautosomal Region (PAR): Origin, Function and FutureOptimising management in Turner syndrome: from infancy to adult transferThe Human Y Chromosome: The Biological Role of a “Functional Wasteland”Bone Fragility in Turner Syndrome: Mechanisms and Prevention StrategiesSHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureEmerging options in growth hormone therapy: an updateIdentification of novel SHOX target genes in the developing limb using a transgenic mouse modelSHOX gene in Leri-Weill syndrome and in idiopathic short statureAllelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOXMeier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genesMutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisShox2 is required for chondrocyte proliferation and maturation in proximal limb skeletonA mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone developmentHoxa11 and Hoxd11 regulate chondrocyte differentiation upstream of Runx2 and Shox2 in miceShox2-deficiency leads to dysplasia and ankylosis of the temporomandibular joint in miceA clinical research integration special program (CRISP) for young women with primary ovarian insufficiencyA novel PF/PN motif inhibits nuclear localization and DNA binding activity of the ESX1 homeoprotein.Identification of molecular signatures specific for distinct cranial sensory ganglia in the developing chick.Growth hormone treatment does not affect incidences of middle ear disease or hearing loss in infants and toddlers with Turner syndrome.Classification and nomenclature of all human homeobox genes.Laser capture microdissection-based in vivo genomic profiling of wound keratinocytes identifies similarities and differences to squamous cell carcinoma47,XXX male: A clinical and molecular study.[Growth hormone treatment inTurner syndrome: data and reflections].Genetic craniofacial aberrations.Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.Response to three years of growth hormone therapy in girls with Turner syndromeGrowth hormone treatment in non-growth hormone-deficient childrenThe 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.Behavioural phenotypes: what do they teach us?An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndromeChromosome imbalance as a driver of sex disparity in disease.
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P2860
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@ast
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@en
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@nl
type
label
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@ast
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@en
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@nl
prefLabel
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@ast
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@en
Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@nl
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P2860
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Pseudoautosomal deletions enco ...... rt stature and Turner syndrome
@en
P2093
A Rosenthal
G A Rappold
G Nordsiek
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P2888
P3181
P356
10.1038/NG0597-54
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P577
1997-05-01T00:00:00Z
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P6179
1014547772