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Journal Abstract Search

142 related items for PubMed ID: 11095597

  • 1. 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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  • 2. 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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  • 3. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
    Bessant DA, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS.
    Eur J Hum Genet; 2000 Oct; 8(10):783-7. PubMed ID: 11039579
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  • 4. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
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  • 6. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 11. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E, Zdzieszyńska M, Goś R, Lewiński A.
    Klin Oczna; 2004 Nov 17; 106(6):743-8. PubMed ID: 15787173
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  • 13. 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 17; 51(4):2236-42. PubMed ID: 19933189
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  • 14. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 17; 56(3):105-52. PubMed ID: 19728970
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  • 15. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
    Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.
    Invest Ophthalmol Vis Sci; 2001 Oct 17; 42(11):2458-65. PubMed ID: 11581183
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  • 17. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
    Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A.
    Mol Vis; 2003 Jan 24; 9():14-7. PubMed ID: 12552256
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