Genomic profile of copy number variants on the short arm of human chromosome 8
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201066.pdf
Reference56 articles.
1. Nusbaum C, Mikkelsen TS, Zody MC et al: DNA sequence and analysis of human chromosome 8. Nature 2006; 439: 331–335.
2. Vermeesch JR, Thoelen R, Salden I, Raes M, Matthijs G, Fryns JP : Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. J Med Genet 2003; 40: e93.
3. Giorda R, Ciccone R, Gimelli G et al: Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat 2007; 28: 459–468.
4. Hollox EJ, Barber JC, Brookes AJ, Armour JA : Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res 2008; 18: 1686–1697.
5. Cooke SL, Northup JK, Champaige NL et al: Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement. Am J Med Genet A 2008; 146A: 1166–1172.
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