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Journal Abstract Search

347 related items for PubMed ID: 10845615

  • 1. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
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  • 2. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
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  • 3. 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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  • 4. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
    Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.
    Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
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  • 6. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
    Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M.
    Ophthalmic Genet; 2005 Sep; 26(3):119-24. PubMed ID: 16272056
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  • 9. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
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  • 13. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
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  • 14. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
    Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2651-60. PubMed ID: 18281613
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  • 15. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
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  • 17. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
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  • 18. RP1 protein truncating mutations predominate at the RP1 adRP locus.
    Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Dec; 41(13):4069-73. PubMed ID: 11095597
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  • 19. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
    Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Jul; 35(8):3134-44. PubMed ID: 8045708
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