Michaelides M - Search Results

1

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

Aboshiha J, Dubis AM, van der Spuy J, Nishiguchi KM, Cheeseman EW, Ayuso C, Ehrenberg M, Simonelli F, Bainbridge JW, Michaelides M. Aboshiha J, et al. Among authors: michaelides m. Ophthalmology. 2015 Apr;122(4):862-4. doi: 10.1016/j.ophtha.2014.11.019. Epub 2015 Jan 14. Ophthalmology. 2015. PMID: 25596619 No abstract available.

2

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Michaelides M, et al. Ophthalmology. 2005 Aug;112(8):1442-7. doi: 10.1016/j.ophtha.2005.02.024. Ophthalmology. 2005. PMID: 15953638

3

X-linked cone dysfunction syndrome with myopia and protanopia.

Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM. Michaelides M, et al. Ophthalmology. 2005 Aug;112(8):1448-54. doi: 10.1016/j.ophtha.2005.02.021. Ophthalmology. 2005. PMID: 15953640

4

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Michaelides M, et al. Ophthalmology. 2005 Sep;112(9):1592-8. doi: 10.1016/j.ophtha.2005.04.004. Ophthalmology. 2005. PMID: 16019073

5

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FD, Black GC. Michaelides M, et al. Am J Ophthalmol. 2006 Feb;141(2):418-20. doi: 10.1016/j.ajo.2005.09.018. Am J Ophthalmol. 2006. PMID: 16458719

6

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Michaelides M, et al. Surv Ophthalmol. 2006 May-Jun;51(3):232-58. doi: 10.1016/j.survophthal.2006.02.007. Surv Ophthalmol. 2006. PMID: 16644365 Review.

7

Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.

Michaelides M, Jenkins SA, Bamiou DE, Sweeney MG, Davis MB, Luxon L, Bird AC, Rath PP. Michaelides M, et al. Arch Ophthalmol. 2008 Mar;126(3):320-8. doi: 10.1001/archopht.126.3.320. Arch Ophthalmol. 2008. PMID: 18332310

8

Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).

Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. Michaelides M, et al. Ophthalmology. 2010 Jan;117(1):120-127.e1. doi: 10.1016/j.ophtha.2009.06.011. Epub 2009 Oct 8. Ophthalmology. 2010. PMID: 19818506

9

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14. Invest Ophthalmol Vis Sci. 2010. PMID: 20393116 Free PMC article.

10

Integrity of the cone photoreceptor mosaic in oligocone trichromacy.

Michaelides M, Rha J, Dees EW, Baraas RC, Wagner-Schuman ML, Mollon JD, Dubis AM, Andersen MK, Rosenberg T, Larsen M, Moore AT, Carroll J. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4757-64. doi: 10.1167/iovs.10-6659. Invest Ophthalmol Vis Sci. 2011. PMID: 21436275 Free PMC article.

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