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Journal Abstract Search

968 related items for PubMed ID: 9855162

  • 41. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
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  • 44. Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.
    Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB.
    Neurosci Lett; 2011 Aug 01; 500(1):16-9. PubMed ID: 21683121
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  • 45. Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.
    Zhang Z, Dai H, Wang L, Tao T, Xu J, Sun X, Yang L, Li G.
    BMC Ophthalmol; 2019 Nov 27; 19(1):240. PubMed ID: 31775781
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  • 46. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.
    Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A.
    Am J Hum Genet; 1997 Sep 27; 61(3):571-80. PubMed ID: 9326322
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  • 48. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
    Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP.
    Arch Ophthalmol; 2004 Jan 27; 122(1):70-5. PubMed ID: 14718298
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  • 49. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
    Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.
    Invest Ophthalmol Vis Sci; 2003 Apr 27; 44(4):1458-63. PubMed ID: 12657579
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  • 51. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun 27; 116(6):1201-9.e1-2. PubMed ID: 19376587
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  • 53. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Chen H, Liu M, Jin L, Wei Y, Wu X, Liu Y, Xhu R, Chai J.
    Chin Med J (Engl); 2002 Jun 27; 115(6):833-6. PubMed ID: 12123547
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  • 57. 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 27; 101(8):1409-21. PubMed ID: 8058286
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  • 58. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
    Demirci FY, Rigatti BW, Mah TS, Gorin MB.
    Am J Ophthalmol; 2006 Jan 27; 141(1):208-10. PubMed ID: 16387007
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  • 59. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
    Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A.
    Eur J Hum Genet; 1999 Sep 27; 7(6):687-94. PubMed ID: 10482958
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  • 60. Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.
    Nakazawa M, Xu S, Gal A, Wada Y, Tamai M.
    Arch Ophthalmol; 1996 Mar 27; 114(3):318-22. PubMed ID: 8600893
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