Michaelides M - Search Results

1

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: michaelides m. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191

2

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW, Mollon JD, Moore AT. Michaelides M, et al. Br J Ophthalmol. 2005 Mar;89(3):332-9. doi: 10.1136/bjo.2004.050567. Br J Ophthalmol. 2005. PMID: 15722315 Free PMC article.

3

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Among authors: michaelides m. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

4

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

5

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.

6

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3085-97. doi: 10.1167/iovs.05-1600. Invest Ophthalmol Vis Sci. 2006. PMID: 16799055

7

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.

8

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

9

Residual cone vision without alpha-transducin.

Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT. Stockman A, et al. Among authors: michaelides m. J Vis. 2007 Mar 23;7(4):8. doi: 10.1167/7.4.8. J Vis. 2007. PMID: 17461692 Free article.

10

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

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