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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Jamieson RV, et al. Among authors: tam pp. Hum Mutat. 2007 Oct;28(10):968-77. doi: 10.1002/humu.20545. Hum Mutat. 2007. PMID: 17492639
Dkk1 and Wnt3 interact to control head morphogenesis in the mouse.
Lewis SL, Khoo PL, De Young RA, Steiner K, Wilcock C, Mukhopadhyay M, Westphal H, Jamieson RV, Robb L, Tam PP. Lewis SL, et al. Among authors: tam pp. Development. 2008 May;135(10):1791-801. doi: 10.1242/dev.018853. Epub 2008 Apr 9. Development. 2008. PMID: 18403408
Novel SOX2 partner-factor domain mutation in a four-generation family.
Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. Mihelec M, et al. Among authors: tam pp. Eur J Hum Genet. 2009 Nov;17(11):1417-22. doi: 10.1038/ejhg.2009.79. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471311 Free PMC article.
296 results