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102 results

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Page 1
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M. Sundaram V, et al. Among authors: davidson ae. Ophthalmology. 2014 Jan;121(1):234-245. doi: 10.1016/j.ophtha.2013.08.017. Epub 2013 Oct 20. Ophthalmology. 2014. PMID: 24148654 Free PMC article.
Childhood-onset autosomal recessive bestrophinopathy.
Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Borman AD, et al. Among authors: davidson ae. Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. Arch Ophthalmol. 2011. PMID: 21825197 No abstract available.
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Sergouniotis PI, et al. Among authors: davidson ae. Am J Hum Genet. 2011 Dec 9;89(6):782-91. doi: 10.1016/j.ajhg.2011.11.004. Epub 2011 Dec 1. Am J Hum Genet. 2011. PMID: 22137173 Free PMC article.
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. Ramsden SC, et al. Among authors: davidson ae. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234150 Free PMC article. No abstract available.
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: davidson ae. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629. Invest Ophthalmol Vis Sci. 2012. PMID: 22427576
102 results