Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Published:2010-06-30 Issue:11 Volume:18 Page:1196-1201
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Duker Angela L,Ballif Blake C,Bawle Erawati V,Person Richard E,Mahadevan Sangeetha,Alliman Sarah,Thompson Regina,Traylor Ryan,Bejjani Bassem A,Shaffer Lisa G,Rosenfeld Jill A,Lamb Allen N,Sahoo Trilochan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010102.pdf

Reference24 articles.

1. Holm VA, Cassidy SB, Butler MG et al: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398–402.

2. Gunay-Aygun M, Schwartz S, Heeger S et al: The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001; 108: E92.

3. Sahoo T, Bacino CA, German JR et al: Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet 2007; 15: 943–949.

4. Makoff AJ, Flomen RH : Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol 2007; 8: R114.

5. Schulze A, Hansen C, Skakkebaek NE et al: Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet 1996; 12: 452–454.

Cited by 279 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epigenetics in rare neurological diseases;Frontiers in Cell and Developmental Biology;2024-07-23

2. Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes;The American Journal of Human Genetics;2024-07

3. SnoRNAs: Exploring Their Implication in Human Diseases;International Journal of Molecular Sciences;2024-06-29

4. Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-06

5. 2′-O-methylation (Nm) in RNA: progress, challenges, and future directions;RNA;2024-03-26