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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Hijazi H, et al. Among authors: cheung sw. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. Hum Mutat. 2020. PMID: 31448840 Free PMC article.
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Krepischi ACV, Rosenberg C, Lupski JR, Ottosson J, Lovmar L, Gacic J, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A. Pettersson M, et al. Among authors: cheung sw. Hum Mutat. 2020 Nov;41(11):1979-1998. doi: 10.1002/humu.24106. Epub 2020 Oct 1. Hum Mutat. 2020. PMID: 32906200 Free PMC article.
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Carvalho CM, et al. Among authors: cheung sw. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. doi: 10.1093/hmg/ddp151. Epub 2009 Mar 26. Hum Mol Genet. 2009. PMID: 19324899 Free PMC article.
Detection of clinically relevant exonic copy-number changes by array CGH.
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: cheung sw. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 Free PMC article.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Liu P, et al. Among authors: cheung sw. Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25. Hum Mol Genet. 2011. PMID: 21355048 Free PMC article.
522 results