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109 results

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Page 1
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE. Repnikova EA, et al. Among authors: astbury c. Forensic Sci Int Genet. 2013 Sep;7(5):475-81. doi: 10.1016/j.fsigen.2013.05.008. Epub 2013 Jun 28. Forensic Sci Int Genet. 2013. PMID: 23948316
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. Among authors: astbury c. 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. Among authors: astbury c. 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. Among authors: astbury c. 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. Among authors: astbury c. 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.
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. Alyaqoub F, et al. Among authors: astbury c. Am J Med Genet A. 2012 Nov;158A(11):2925-30. doi: 10.1002/ajmg.a.35610. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987822
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