Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)-Reference-Cited by-同舟云学术

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Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)

Published:2012-04-18 Issue:8 Volume:20 Page:3-4
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Albuisson Juliette,Schmitt Sébastien,Baron Sabine,Bézieau Stéphane,Benito-Sanz Sara,Heath Karen E

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201264.pdf

Reference11 articles.

1. Benito-Sanz S, Gorbenko Del Blanco D, Aza-Carmona M et al. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands. Hum Mutat 2006; 27: 1062.

2. Huber C, Rosilio M, Munnich A, Cormier-Daire V French SHOX GeNeSIS Module: High incidence of SHOX anomalies in individuals with short stature. J Med Genet 2006; 43: 735–739.

3. Chen J, Wildhardt G, Zhong Z et al. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet 2009; 46: 834–839.

4. Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A et al. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. Eur J Hum Genet 2011; 19: 1218–1225.

5. Benito-Sanz S, Royo JL, Barroso E et al. Identification of the first frequent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet 2011, (in revision).

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2. Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature;Acta Medica Marisiensis;2017-09-01

3. A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány;Orvosi Hetilap;2017-08

4. Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients;Molecular Cytogenetics;2016-03-31

5. Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population;Hormone Research in Paediatrics;2016

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