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Journal Abstract Search

372 related items for PubMed ID: 10711674

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  • 3. A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
    Hameed A, Khaliq S, Ismail M, Anwar K, Mehdi SQ, Bessant D, Payne AM, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2001 Jun; 42(7):1436-8. PubMed ID: 11381043
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  • 4. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
    Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J.
    Nat Genet; 1996 Dec; 14(4):461-4. PubMed ID: 8944027
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  • 5. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
    Rozet JM, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, Souied E, Munnich A, Kaplan J.
    Invest Ophthalmol Vis Sci; 2001 May; 42(6):1190-2. PubMed ID: 11328726
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  • 6. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
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  • 7. 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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  • 13. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.
    Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T.
    Invest Ophthalmol Vis Sci; 2002 Oct; 43(10):3160-4. PubMed ID: 12356819
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  • 14. Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.
    Oliveira L, Miniou P, Viegas-Pequignot E, Rozet JM, Dollfus H, Pittler SJ.
    Genomics; 1994 Jul 15; 22(2):478-81. PubMed ID: 7806240
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  • 15. First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.
    Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY.
    Invest Ophthalmol Vis Sci; 2002 Aug 15; 43(8):2540-5. PubMed ID: 12147582
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  • 18. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.
    Bateman JB, Geyer DD, Flodman P, Johannes M, Sikela J, Walter N, Moreira AT, Clancy K, Spence MA.
    Invest Ophthalmol Vis Sci; 2000 Oct 15; 41(11):3278-85. PubMed ID: 11006214
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