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Journal Abstract Search

216 related items for PubMed ID: 24454928

  • 21. Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.
    Pusch CM, Broghammer M, Jurklies B, Besch D, Jacobi FK.
    Hum Mutat; 2002 Nov; 20(5):405. PubMed ID: 12402343
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  • 22. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H, Diez Montero C, Villanueva Gómez A, Lobo Valentin R, Montero-Moreno JA.
    Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
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  • 23. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
    Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.
    PLoS One; 2011 Apr; 6(8):e23021. PubMed ID: 21857984
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  • 24. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
    Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.
    Ophthalmic Genet; 2003 Dec; 24(4):215-23. PubMed ID: 14566651
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  • 28. Clinical and molecular findings in children with retinitis pigmentosa.
    Li C, Zhang C, Bai D, Cui Y.
    Ophthalmic Genet; 2024 Oct; 45(5):441-451. PubMed ID: 39206744
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  • 31. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y, Dong B, Hu AL, Cui TT, Zheng YY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276
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  • 32. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
    Thompson DA, Khan NW, Othman MI, Chang B, Jia L, Grahek G, Wu Z, Hiriyanna S, Nellissery J, Li T, Khanna H, Colosi P, Swaroop A, Heckenlively JR.
    PLoS One; 2012 Aug; 7(5):e35865. PubMed ID: 22563472
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  • 36. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
    Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH.
    Exp Eye Res; 2002 Oct; 75(4):431-43. PubMed ID: 12387791
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  • 38. RPGR mutation analysis and disease: an update.
    Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF.
    Hum Mutat; 2007 Apr; 28(4):322-8. PubMed ID: 17195164
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