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Page 1
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Ophthalmology. 2014 Jun;121(6):1174-84. doi: 10.1016/j.ophtha.2013.11.042. Epub 2014 Jan 28. Ophthalmology. 2014. PMID: 24480711 Free article.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Among authors: ocaka la. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.
Author reply: To PMID 24480711.
Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Ophthalmology. 2015 Apr;122(4):e22. doi: 10.1016/j.ophtha.2014.08.041. Ophthalmology. 2015. PMID: 25797088 No abstract available.
The genetic landscape of crystallins in congenital cataract.
Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M. Berry V, et al. Among authors: ocaka la. Orphanet J Rare Dis. 2020 Nov 26;15(1):333. doi: 10.1186/s13023-020-01613-3. Orphanet J Rare Dis. 2020. PMID: 33243271 Free PMC article.
A novel keratocan mutation causing autosomal recessive cornea plana.
Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS. Lehmann OJ, et al. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3118-22. Invest Ophthalmol Vis Sci. 2001. PMID: 11726611
33 results