Michaelides M - Search Results

1

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Nguyen Q, Woof W, Kabiri N, Sen S, Daich Varela M, Cabral De Guimaraes TA, Shah M, Sumodhee D, Moghul I, Al-Khuzaei S, Liu Y, Hollyhead C, Tailor B, Lobo L, Veal C, Archer S, Furman J, Arno G, Gomes M, Fujinami K, Madhusudhan S, Mahroo OA, Webster AR, Balaskas K, Downes SM, Michaelides M, Pontikos N; Eye2Gene Patient Advisory Group. Nguyen Q, et al. Among authors: michaelides m. BMJ Open. 2023 Mar 20;13(3):e071043. doi: 10.1136/bmjopen-2022-071043. BMJ Open. 2023. PMID: 36940949 Free PMC article.

2

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

3

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

4

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

5

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.

6

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.

7

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

8

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.

9

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

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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