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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: othman m. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.
Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella MA, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Boehnke M. Richards JE, et al. Among authors: othman mi. Ophthalmology. 1998 Sep;105(9):1698-707. doi: 10.1016/S0161-6420(98)99041-8. Ophthalmology. 1998. PMID: 9754180
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Shimizu S, et al. Among authors: othman m. Am J Ophthalmol. 2000 Aug;130(2):165-77. doi: 10.1016/s0002-9394(00)00536-5. Am J Ophthalmol. 2000. PMID: 11004290
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Friedman JS, et al. Among authors: othman m. Am J Hum Genet. 2006 Dec;79(6):1059-70. doi: 10.1086/510021. Epub 2006 Oct 23. Am J Hum Genet. 2006. PMID: 17186464 Free PMC article.
1,018 results