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IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing
Kristyna Brejchova et al.
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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
Antonino Montalbano et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial
Imane Benabbad et al.
HORMONE RESEARCH IN PAEDIATRICS (2017)
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Antonino Montalbano et al.
EMBO MOLECULAR MEDICINE (2016)
All-age relationship between arm span and height in different ethnic groups
Philip H. Quanjer et al.
EUROPEAN RESPIRATORY JOURNAL (2014)
SHOX triggers the lysosomal pathway of apoptosis via oxidative stress
Georgi Hristov et al.
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NPPB and ACAN, Two Novel SHOX2 Transcription Targets Implicated in Skeletal Development
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PLOS ONE (2014)
Identification of Novel SHOX Target Genes in the Developing Limb Using a Transgenic Mouse Model
Katja U. Beiser et al.
PLOS ONE (2014)
Austrian height and body proportion references for children aged 4 to under 19 years
Andreas Gleiss et al.
ANNALS OF HUMAN BIOLOGY (2013)
GH Treatment to Final Height Produces Similar Height Gains in Patients With SHOX Deficiency and Turner Syndrome: Results of a Multicenter Trial
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly-Mental Retardation Syndrome
Julia Vodopiutz et al.
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Genotypes and Phenotypes of Children with SHOX Deficiency in France
Myriam Rosilio et al.
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Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy
Gerhard Binder
HORMONE RESEARCH IN PAEDIATRICS (2011)
FGFR3 is a target of the homeobox transcription factor SHOX in limb development
Eva Decker et al.
HUMAN MOLECULAR GENETICS (2011)
Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression
Claudia Durand et al.
PLOS ONE (2011)
Increased Number of Sex Chromosomes Affects Height in a Nonlinear Fashion: A Study of 305 Patients With Sex Chromosome Aneuploidy
Anne Marie Ottesen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation
Robert Dobrovolny et al.
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Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial
Werner F. Blum et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
S Benito-Sanz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Nationwide age references for sitting height, leg length, and sitting height/height ratio, and their diagnostic value for disproportionate growth disorders
AM Fredriks et al.
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SHOX haploinsufficiency and Leri-Weill dyschondrosteosis:: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity
G Binder et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes
A Marchini et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation
DJ Shears et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
S Schiller et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)