Michaelides M - Search Results

1

First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.

Michaelides M, Hirji N, Wong SC, Besirli CG, Zaman S, Kumaran N, Georgiadis A, Smith AJ, Ripamonti C, Gottlob I, Robson AG, Thiadens A, Henderson RH, Fleck P, Anglade E, Dong X, Capuano G, Lu W, Berry P, Kane T, Naylor S, Georgiou M, Kalitzeos A, Ali RR, Forbes A, Bainbridge J. Michaelides M, et al. Am J Ophthalmol. 2023 Sep;253:243-251. doi: 10.1016/j.ajo.2023.05.009. Epub 2023 May 11. Am J Ophthalmol. 2023. PMID: 37172884 Free article. Clinical Trial.

2

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

3

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

4

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: michaelides m. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.

5

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M. Scott A, et al. Among authors: michaelides m. Am J Ophthalmol. 2007 Feb;143(2):346-8. doi: 10.1016/j.ajo.2006.09.022. Epub 2006 Oct 23. Am J Ophthalmol. 2007. PMID: 17258529

6

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW. Robson AG, et al. Among authors: michaelides m. Br J Ophthalmol. 2008 Jan;92(1):95-102. doi: 10.1136/bjo.2007.124008. Epub 2007 Oct 25. Br J Ophthalmol. 2008. PMID: 17962389

7

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.

Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE. Robson AG, et al. Among authors: michaelides m. Doc Ophthalmol. 2008 Mar;116(2):79-89. doi: 10.1007/s10633-007-9087-4. Epub 2007 Nov 6. Doc Ophthalmol. 2008. PMID: 17985165 Free PMC article. Review.

8

Phenotypic variation in enhanced S-cone syndrome.

Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE. Audo I, et al. Among authors: michaelides m. Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93. doi: 10.1167/iovs.05-1629. Invest Ophthalmol Vis Sci. 2008. PMID: 18436841

9

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.

Rath PP, Jenkins S, Michaelides M, Smith A, Sweeney MG, Davis MB, Fitzke FW, Bird AC. Rath PP, et al. Among authors: michaelides m. Br J Ophthalmol. 2008 May;92(5):623-9. doi: 10.1136/bjo.2007.131177. Br J Ophthalmol. 2008. PMID: 18441172 Free PMC article.

10

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Li Z, et al. Among authors: michaelides m. Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878917 Free PMC article.

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