Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping-Reference-Cited by-同舟云学术

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Published:2009-06-26 Issue:4 Volume:126 Page:589-602
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

El-Hattab Ayman W.,Smolarek Teresa A.,Walker Martha E.,Schorry Elizabeth K.,Immken LaDonna L.,Patel Gayle,Abbott Mary-Alice,Lanpher Brendan C.,Ou Zhishuo,Kang Sung-Hae L.,Patel Ankita,Scaglia Fernando,Lupski James R.,Cheung Sau Wai,Stankiewicz Pawel

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-009-0706-x.pdf

Reference42 articles.

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3. Bettelheim D, Hengstaschlager M, Drhonsky R, Eppel W, Bernaschek G (1998) Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo). Clin Genet 53:319–320

4. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR (2003) Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 73:1302–1315

5. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O (2009) Increased LIS1 expression affects human and mouse brain development. Nat Genet 41:168–177

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