Michaelides M - Search Results

1

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.

Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME. Igelman AD, et al. Among authors: michaelides m. Ophthalmic Genet. 2021 Dec;42(6):664-673. doi: 10.1080/13816810.2021.1946704. Epub 2021 Jul 5. Ophthalmic Genet. 2021. PMID: 34223797 Free PMC article.

2

The genetics of inherited macular dystrophies.

Michaelides M, Hunt DM, Moore AT. Michaelides M, et al. J Med Genet. 2003 Sep;40(9):641-50. doi: 10.1136/jmg.40.9.641. J Med Genet. 2003. PMID: 12960208 Free PMC article. Review.

3

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.

4

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

5

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

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

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.

9

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

10

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.

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