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Journal Abstract Search
264 related items for PubMed ID: 19243827
21. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS. Ophthalmology; 1997 Feb; 104(2):299-306. PubMed ID: 9052636 [Abstract] [Full Text] [Related]
22. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Reig C, Serra A, Gean E, Vidal M, Arumí J, De la Calzada MD, Antich J, Carballo M. Ophthalmic Genet; 1995 Jun; 16(2):39-44. PubMed ID: 7493155 [Abstract] [Full Text] [Related]
24. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M. Retina; 1996 Jun; 16(5):405-10. PubMed ID: 8912967 [Abstract] [Full Text] [Related]
31. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Yanagihashi S, Nakazawa M, Kurotaki J, Sato M, Miyagawa Y, Ohguro H. Arch Ophthalmol; 2003 Oct; 121(10):1458-61. PubMed ID: 14557183 [No Abstract] [Full Text] [Related]
32. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M. Arch Ophthalmol; 1996 Jan; 114(1):72-8. PubMed ID: 8540854 [Abstract] [Full Text] [Related]
33. 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. Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638 [Abstract] [Full Text] [Related]
35. A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy. Pajic B, Weigell-Weber M, Schipper I, Kryenbühl C, Büchi ER, Spiegel R, Hergersberg M. Retina; 2006 Oct; 26(8):947-53. PubMed ID: 17031298 [Abstract] [Full Text] [Related]
36. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Arch Ophthalmol; 1993 Nov; 111(11):1531-42. PubMed ID: 8240110 [Abstract] [Full Text] [Related]
37. Dominant cystoid macular dystrophy. Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Ophthalmology; 2015 Jan; 122(1):180-91. PubMed ID: 25267528 [Abstract] [Full Text] [Related]
38. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Yang Z, Li Y, Jiang L, Karan G, Moshfeghi D, O'Connor S, Li X, Yu Z, Lewis H, Zack D, Jacobson S, Zhang K. Ophthalmic Genet; 2004 Jun; 25(2):133-45. PubMed ID: 15370544 [Abstract] [Full Text] [Related]
39. The development of central areolar choroidal dystrophy. Hoyng CB, Deutman AF. Graefes Arch Clin Exp Ophthalmol; 1996 Feb; 234(2):87-93. PubMed ID: 8720677 [Abstract] [Full Text] [Related]
40. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]