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Journal Abstract Search

201 related items for PubMed ID: 11978760

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  • 2. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
    Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR.
    Ophthalmology; 1994 Aug; 101(8):1409-21. PubMed ID: 8058286
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  • 3. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
    Dryja TP, Hahn LB, Kajiwara K, Berson EL.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1972-82. PubMed ID: 9331261
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  • 6. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B.
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
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  • 8. Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
    Matias-Florentino M, Ayala-Ramirez R, Graue-Wiechers F, Zenteno JC.
    Curr Eye Res; 2009 Dec; 34(12):1050-6. PubMed ID: 19958124
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  • 9. 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
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  • 13. Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
    Ekström U, Ponjavic V, Andréasson S, Ehinger B, Nilsson-Ehle P, Abrahamson M.
    Mol Pathol; 1998 Oct; 51(5):287-91. PubMed ID: 10193525
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  • 16. Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.
    Kedzierski W, Nusinowitz S, Birch D, Clarke G, McInnes RR, Bok D, Travis GH.
    Proc Natl Acad Sci U S A; 2001 Jul 03; 98(14):7718-23. PubMed ID: 11427722
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  • 17. A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
    Bareil C, Hamel C, Arnaud B, Demaille J, Claustres M.
    Ophthalmic Genet; 1997 Sep 03; 18(3):129-38. PubMed ID: 9361310
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  • 18. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Saga M, Mashima Y, Akeo K, Oguchi Y, Kudoh J, Shimizu N.
    Hum Genet; 1993 Nov 03; 92(5):519-21. PubMed ID: 8244346
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  • 19. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
    Nakazawa M, Kikawa E, Chida Y, Tamai M.
    Hum Mol Genet; 1994 Jul 03; 3(7):1195-6. PubMed ID: 7981698
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