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Journal Abstract Search
163 related items for PubMed ID: 10502575
1. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC. Br J Ophthalmol; 1999 Oct; 83(10):1144-8. PubMed ID: 10502575 [Abstract] [Full Text] [Related]
3. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ. Hum Genet; 1999 Oct; 105(1-2):57-62. PubMed ID: 10480356 [Abstract] [Full Text] [Related]
4. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype. Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A. Ophthalmic Genet; 1998 Dec; 19(4):187-96. PubMed ID: 9895243 [Abstract] [Full Text] [Related]
5. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N. Mol Vis; 2006 Oct 06; 12():1167-74. PubMed ID: 17093403 [Abstract] [Full Text] [Related]
6. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Am J Hum Genet; 2002 Jun 06; 70(6):1545-54. PubMed ID: 11992260 [Abstract] [Full Text] [Related]
8. Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G. Mutat Res; 2001 Jan 06; 432(3-4):79-82. PubMed ID: 11465545 [Abstract] [Full Text] [Related]
10. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, Evans HJ, Strain L, Brock DJ. Am J Hum Genet; 1994 Jul 06; 55(1):105-11. PubMed ID: 8023838 [Abstract] [Full Text] [Related]
11. Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function. Hiraoka M, Trese MT, Shastry BS. J Hum Genet; 2001 Jul 06; 46(4):241-3. PubMed ID: 11322665 [Abstract] [Full Text] [Related]
13. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Am J Hum Genet; 1998 Nov 06; 63(5):1439-47. PubMed ID: 9792872 [Abstract] [Full Text] [Related]
14. A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A. Am J Hum Genet; 1996 Jul 06; 59(1):152-8. PubMed ID: 8659520 [Abstract] [Full Text] [Related]
18. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. Prokisch H, Hartig M, Hellinger R, Meitinger T, Rosenberg T. Invest Ophthalmol Vis Sci; 2007 Sep 06; 48(9):4012-8. PubMed ID: 17724181 [Abstract] [Full Text] [Related]
19. Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site. Keith CG, Denton MJ, Chen JD. Ophthalmic Paediatr Genet; 1991 Jun 06; 12(2):91-8. PubMed ID: 1923319 [Abstract] [Full Text] [Related]