Associated Papers
X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.
Berry ASF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K et al.
Nature Communications, 2021
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A et al.
Endocrine Reviews, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Bunyan DJ et al.
American Journal of Medical Genetics. Part A, 2013
Short stature homeoboxcontaining gene and idiopathic short stature.
Iughetti L et al.
Expert Review of Endocrinology & Metabolism, 2009
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].
Jorge AA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
SHOX at a glance: from gene to protein.
Marchini A et al.
Archives of Physiology and Biochemistry, 2007
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
Rappold G et al.
Journal of Medical Genetics, 2007
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.
Blum WF et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
Ross JL et al.
The Journal of Pediatrics, 2005
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
Schneider KU et al.
Human Mutation, 2005
[Genetics and the SHOX gene].
Huber C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2004
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.
Fukami M et al.
Endocrine Journal, 2004
Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.
Binder G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.
Flanagan SF et al.
Journal of Medical Genetics, 2002
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.
Falcinelli C et al.
Journal of Medical Genetics, 2002
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold GA et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Phenotypes Associated with SHOX Deficiency.
Ross JL et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Grigelioniene G et al.
Human Genetics, 2001
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
Clement-Jones M et al.
Human Molecular Genetics, 2000
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Cormier-Daire V et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V et al.
Nature Genetics, 1998