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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. Ballif BC, et al. Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206336 Free PMC article.
Novel diagnostic features of dysferlinopathies.
Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. Rosales XQ, et al. Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650. Muscle Nerve. 2010. PMID: 20544924 Free PMC article.
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Mendell JR, et al. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251. Ann Neurol. 2010. PMID: 21031578 Free PMC article. Clinical Trial.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Talkowski ME, et al. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. Am J Hum Genet. 2011. PMID: 21981781 Free PMC article.
Locoregional MYCN-amplified neuroblastoma.
Morales La Madrid A, Volchenboum S, Gastier-Foster JM, Pyatt R, Liu D, Pytel P, Lavarino C, Rodriguez E, Cohn SL. Morales La Madrid A, et al. Pediatr Blood Cancer. 2012 Oct;59(4):736-8. doi: 10.1002/pbc.24003. Epub 2012 Jan 1. Pediatr Blood Cancer. 2012. PMID: 22213566
221 results