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Journal Abstract Search

379 related items for PubMed ID: 19578023

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  • 4. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
    Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
    Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3052-9. PubMed ID: 16123401
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  • 5. 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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  • 6. 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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  • 7. 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 02; 26(3):319-23. PubMed ID: 11062471
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  • 9. Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
    Wang Q, Gao Y, Li S, Guo X, Zhang Q.
    Int J Mol Med; 2012 Sep 02; 30(3):521-6. PubMed ID: 22735794
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  • 10. [Molecular genetic study of congenital stationary night blindness].
    Nakamura M, Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2004 Nov 02; 108(11):665-73. PubMed ID: 15584351
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  • 11. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
    Ophthalmology; 2010 Nov 02; 117(11):2169-77.e3. PubMed ID: 20591486
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  • 12. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
    Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC.
    Mol Vis; 1999 Dec 30; 5():41. PubMed ID: 10617778
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  • 14. 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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  • 15. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.
    Ophthalmology; 2013 Oct 01; 120(10):2072-81. PubMed ID: 23714322
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  • 19. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
    Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.
    PLoS One; 2015 Oct 01; 10(9):e0137072. PubMed ID: 26368928
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  • 20. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
    Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R.
    Invest Ophthalmol Vis Sci; 2005 Sep 01; 46(9):3355-62. PubMed ID: 16123440
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