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Journal Abstract Search

387 related items for PubMed ID: 11062472

  • 1. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
    Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A.
    Nat Genet; 2000 Nov; 26(3):324-7. PubMed ID: 11062472
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  • 2. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG.
    Nat Genet; 2000 Nov; 26(3):319-23. PubMed ID: 11062471
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  • 3. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.
    Nat Genet; 1998 Jul; 19(3):264-7. PubMed ID: 9662400
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  • 4. Mutations in NYX of individuals with high myopia, but without night blindness.
    Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF.
    Mol Vis; 2007 Mar 01; 13():330-6. PubMed ID: 17392683
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  • 5. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.
    Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA.
    J Neurophysiol; 2005 Jan 01; 93(1):481-92. PubMed ID: 15331616
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  • 10. Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.
    O'Connor E, Eisenhaber B, Dalley J, Wang T, Missen C, Bulleid N, Bishop PN, Trump D.
    Hum Mol Genet; 2005 Jul 01; 14(13):1877-87. PubMed ID: 15905181
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  • 11. Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.
    Scholl HP, Langrová H, Pusch CM, Wissinger B, Zrenner E, Apfelstedt-Sylla E.
    Invest Ophthalmol Vis Sci; 2001 Oct 01; 42(11):2728-36. PubMed ID: 11581222
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  • 16. Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.
    Pesch K, Zeitz C, Fries JE, Münscher S, Pusch CM, Kohler K, Berger W, Wissinger B.
    Invest Ophthalmol Vis Sci; 2003 May 01; 44(5):2260-6. PubMed ID: 12714669
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  • 19. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
    Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W.
    Mol Vis; 2005 Mar 02; 11():179-83. PubMed ID: 15761389
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