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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: bamforth js. Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29. Hum Genet. 2012. PMID: 21800092
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR, Lamb DJ. Jorgez CJ, et al. Among authors: bamforth js. PLoS One. 2014 Sep 9;9(9):e107028. doi: 10.1371/journal.pone.0107028. eCollection 2014. PLoS One. 2014. PMID: 25203062 Free PMC article.
X-linked situs abnormalities result from mutations in ZIC3.
Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. Gebbia M, et al. Among authors: bamforth js. Nat Genet. 1997 Nov;17(3):305-8. doi: 10.1038/ng1197-305. Nat Genet. 1997. PMID: 9354794
Homeoboxes and field defects.
Bamforth JS. Bamforth JS. Am J Hum Genet. 1993 Nov;53(5):1154-5. Am J Hum Genet. 1993. PMID: 8105691 Free PMC article. No abstract available.
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: bamforth js. 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
Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues.
Nakabayashi K, Makino S, Minagawa S, Smith AC, Bamforth JS, Stanier P, Preece M, Parker-Katiraee L, Paton T, Oshimura M, Mill P, Yoshikawa Y, Hui CC, Monk D, Moore GE, Scherer SW. Nakabayashi K, et al. Among authors: bamforth js. J Med Genet. 2004 Aug;41(8):601-8. doi: 10.1136/jmg.2003.014142. J Med Genet. 2004. PMID: 15286155 Free PMC article. No abstract available.
47 results