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Microduplication and triplication of 22q11.2: a highly variable syndrome.
Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Yobb TM, et al. Among authors: somerville mj. Am J Hum Genet. 2005 May;76(5):865-76. doi: 10.1086/429841. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800846 Free PMC article.
Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization.
Percy ME, Dearie TG, Jabs EW, Bauer SJ, Chodakowski B, Somerville MJ, Lennox A, McLachlan DR, Baldini A, Miller DA. Percy ME, et al. Among authors: somerville mj. Am J Med Genet. 1993 Aug 1;47(1):14-9. doi: 10.1002/ajmg.1320470104. Am J Med Genet. 1993. PMID: 7690182
GDF6, a novel locus for a spectrum of ocular developmental anomalies.
Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. Asai-Coakwell M, et al. Am J Hum Genet. 2007 Feb;80(2):306-15. doi: 10.1086/511280. Epub 2006 Dec 29. Am J Hum Genet. 2007. PMID: 17236135 Free PMC article.
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ. Christiansen J, et al. Among authors: somerville mj. Circ Res. 2004 Jun 11;94(11):1429-35. doi: 10.1161/01.RES.0000130528.72330.5c. Epub 2004 Apr 29. Circ Res. 2004. PMID: 15117819
54 results