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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.
Genetic study of SOX9 in a case of campomelic dysplasia.
Giordano J, Prior HM, Bamforth JS, Walter MA. Giordano J, et al. Among authors: bamforth js. Am J Med Genet. 2001 Jan 15;98(2):176-81. doi: 10.1002/1096-8628(20010115)98:2<176::aid-ajmg1027>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11223854
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
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
47 results