Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureShort and tall stature: a new paradigm emergesWeight gain in Turner Syndrome: association to puberty induction? - longitudinal analysis of KIGS data.Growth hormone treatment in non-growth hormone-deficient childrenHypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report.Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.Skeletal Deformity Associated with SHOX DeficiencyStructural and numerical changes of chromosome X in patients with esophageal atresiaEvaluation of the azoospermic maleClinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.The short stature homeobox 2 (Shox2)-bone morphogenetic protein (BMP) pathway regulates dorsal mesenchymal protrusion development and its temporary function as a pacemaker during cardiogenesis.Transcriptome analysis of Sporisorium scitamineum reveals critical environmental signals for fungal sexual mating and filamentous growth.Common VDR polymorphisms and idiopathic short stature in children from northern Greece.Sternum length and rib cage dimensions compared with bodily proportions in adults with cystic fibrosisA Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.The Biology of StatureA Track Record on SHOX: From Basic Research to Complex Models and TherapyRare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosisRetinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.Height matters-from monogenic disorders to normal variation.Investigation and management of short stature.Diagnosis of Lung Cancer by SHOX2 Gene Methylation Assay.Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Genetics of Short Stature.Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis.Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature.Transcription factor short stature homeobox 2 is required for proper development of tropomyosin-related kinase B-expressing mechanosensory neurons.Novel genetic cause of idiopathic short stature.An association of craniopharyngioma in Turner syndrome.Comparative cytogenetic analysis in two tissues with different lineage in Turner's syndrome patients: correlation with phenotype.Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.Short Stature Diagnosis and Referral.
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Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 04 February 2011
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@en
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@nl
type
label
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@en
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@nl
prefLabel
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@en
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@nl
P356
P1433
P1476
Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
@en
P2093
Gerhard Binder
P356
10.1159/000324105
P577
2011-02-04T00:00:00Z