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Journal Abstract Search

110 related items for PubMed ID: 10737996

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  • 24. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
    Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA.
    Am J Ophthalmol; 2003 Oct; 136(4):678-87. PubMed ID: 14516808
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  • 25. Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.
    Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.
    Ophthalmic Genet; 2001 Sep; 22(3):187-94. PubMed ID: 11559860
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  • 27. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
    Shifera AS, Kay CN.
    Ophthalmic Genet; 2015 Sep; 36(3):251-6. PubMed ID: 24428633
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  • 30. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.
    Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A.
    Arch Ophthalmol; 1998 Feb; 116(2):213-8. PubMed ID: 9488274
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  • 31. Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
    Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls TJ, Andréasson S, Swaroop A.
    Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2470-4. PubMed ID: 9804156
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  • 32. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
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  • 33. Severe manifestations in carrier females in X linked retinitis pigmentosa.
    Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J.
    J Med Genet; 1997 Oct; 34(10):793-7. PubMed ID: 9350809
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  • 36. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
    Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A.
    Nat Genet; 1996 May; 13(1):35-42. PubMed ID: 8673101
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  • 37. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
    García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3777-82. PubMed ID: 16936086
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  • 38. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
    Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W.
    Hum Genet; 2001 Sep; 109(3):271-8. PubMed ID: 11702207
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  • 39. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
    Mavlyutov TA, Zhao H, Ferreira PA.
    Hum Mol Genet; 2002 Aug 01; 11(16):1899-907. PubMed ID: 12140192
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  • 40. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
    Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J.
    Proc Natl Acad Sci U S A; 1999 Feb 16; 96(4):1315-20. PubMed ID: 9990021
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