Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome-Reference-Cited by-同舟云学术

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Published:2014-06-11 Issue:2 Volume:23 Page:252-255
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bieth Eric,Eddiry Sanaa,Gaston Véronique,Lorenzini Françoise,Buffet Alexandre,Conte Auriol Françoise,Molinas Catherine,Cailley Dorothée,Rooryck Caroline,Arveiler Benoit,Cavaillé Jérome,Salles Jean Pierre,Tauber Maïthé

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014103.pdf

Reference20 articles.

1. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M : Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 93: 4183–4197.

2. Cassidy S, Schwartz S, Miller JL, Driscoll DJ : Prader-Willi syndrome. Genet Med 2012; 14: 10–26.

3. Schüle B, Albalwi M, Northrop E et al: Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. BMC Med Genet 2005; 6: 18.

4. Skryabin BV, Gubar LV, Seeger B et al: Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation. PLoS Genet 2007; 3: e235.

5. Ding F, Li HH, Zhang S et al: SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One 2008; 3: e1709.

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