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Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Somerville MJ, et al. Among authors: bamforth s. N Engl J Med. 2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. N Engl J Med. 2005. PMID: 16236740 Free PMC article.
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ. Asai-Coakwell M, et al. Among authors: bamforth s. Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19129173
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: bamforth s. 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.
Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome.
Leonard NJ, Bernier FP, Rudd N, Machin GA, Bamforth F, Bamforth S, Grundy P, Johnson C. Leonard NJ, et al. Among authors: bamforth f, bamforth s. Am J Med Genet. 1996 Jan 22;61(3):253-7. doi: 10.1002/(SICI)1096-8628(19960122)61:3<253::AID-AJMG9>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8741870
Amnion rupture sequence in previable fetuses.
Kalousek DK, Bamforth S. Kalousek DK, et al. Among authors: bamforth s. Am J Med Genet. 1988 Sep;31(1):63-73. doi: 10.1002/ajmg.1320310110. Am J Med Genet. 1988. PMID: 3223500
Congenital cutis laxa with retardation of growth and development.
Patton MA, Tolmie J, Ruthnum P, Bamforth S, Baraitser M, Pembrey M. Patton MA, et al. Among authors: bamforth s. J Med Genet. 1987 Sep;24(9):556-61. doi: 10.1136/jmg.24.9.556. J Med Genet. 1987. PMID: 3669050 Free PMC article.
68 results