Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Journal of Clinical Endocrinology and Metabolism

• Publication date

  2011-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1210/jc.2010-1689PMID 21147883
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

  2010cited by this paper
• Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).

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• Unexpected Phenotype in a Boy with Trisomy of the SHOX Gene

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• Usefulness of MLPA in the detection of SHOX deletions.

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• Enhancer elements upstream of the SHOX gene are active in the developing limb

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• Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

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• A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences

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• Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

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• Complex human chromosomal and genomic rearrangements.

  2009cited by this paper
• Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop.

  2008cited by this paper
• Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

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• Compound heterozygosity of SHOX‐encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

  2007cited by this paper
• The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia

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• Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay

  2006cited by this paper
• Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

  2006cited by this paper
• Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

  2006cited by this paper
• PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri‐Weill dyschondrosteosis (LWD) probands

  2006cited by this paper
• Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

  2006cited by this paper
• High incidence of SHOX anomalies in individuals with short stature

  2006cited by this paper
• A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

  2005cited by this paper
• Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: Implication for the SHOX enhancer

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• SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

  2004cited by this paper
• SHOX mutations detected by FISH and direct sequencing in patients with short stature

  2003cited by this paper
• Complete SHOX deficiency causes Langer mesomelic dysplasia.

  2002cited by this paper
• Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency.

  2002cited by this paper
• Trisomy of the short stature homeobox‐containing gene (SHOX), resulting from a duplication‐deletion of the X chromosome

  2002cited by this paper
• Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

  2002cited by this paper
• Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

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

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• DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.

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• Une affection congénitale et symétrique du développement osseux. La dyschondrostéose

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  2018cites this paper
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