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Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: cheetham me. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. Henderson RH, et al. Among authors: cheetham me. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9. doi: 10.1167/iovs.07-0207. Invest Ophthalmol Vis Sci. 2007. PMID: 18055820 Free article.
Focus on molecules: centrosomal protein 290 (CEP290).
Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT. Moradi P, et al. Among authors: cheetham me. Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010.05.009. Epub 2010 May 20. Exp Eye Res. 2011. PMID: 20493186 No abstract available.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: cheetham me. Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579627 Free PMC article.
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: cheetham me. Adv Exp Med Biol. 2012;723:595-601. doi: 10.1007/978-1-4614-0631-0_76. Adv Exp Med Biol. 2012. PMID: 22183383 No abstract available.
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. Webb TR, et al. Among authors: cheetham me. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284829 Free PMC article.
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT. Tan MH, et al. Among authors: cheetham me. PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6. PLoS One. 2012. PMID: 22412862 Free PMC article.
187 results