Michaelides M - Search Results

1

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: michaelides m. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.

2

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT. Michaelides M, et al. Br J Ophthalmol. 2003 Nov;87(11):1317-20. doi: 10.1136/bjo.87.11.1317. Br J Ophthalmol. 2003. PMID: 14609822 Free PMC article.

3

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. Invest Ophthalmol Vis Sci. 2004. PMID: 15161866

4

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT. Michaelides M, et al. Br J Ophthalmol. 2005 Feb;89(2):198-206. doi: 10.1136/bjo.2004.050773. Br J Ophthalmol. 2005. PMID: 15665353 Free PMC article.

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

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

7

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

8

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

9

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.

10

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.

Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE. Robson AG, et al. Among authors: michaelides m. Retina. 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e. Retina. 2010. PMID: 19952985

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

668 results

Search Page