Novel microdeletion syndromes detected by chromosome microarrays
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-008-0513-9.pdf
Reference59 articles.
1. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD (1999) Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65:370–378
2. Aradhya S, Cherry AM (2007) Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. Genet Med 9:553–559
3. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG (2007) Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2. Nat Genet 39:1071–1073
4. Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E (2008) 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 16:18–27
5. Bejjani BA, Shaffer LG (2006) Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn 8:528–533
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