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Journal Abstract Search

291 related items for PubMed ID: 17389517

  • 1. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
    Invest Ophthalmol Vis Sci; 2007 Apr; 48(4):1824-31. PubMed ID: 17389517
    [Abstract] [Full Text] [Related]

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  • 3. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
    Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A.
    Nat Genet; 2004 Aug; 36(8):850-4. PubMed ID: 15258582
    [Abstract] [Full Text] [Related]

  • 4. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
    Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A.
    Hum Mol Genet; 2005 Dec 15; 14(24):3865-75. PubMed ID: 16269441
    [Abstract] [Full Text] [Related]

  • 5. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
    Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2009 Dec 15; 50(12):5944-54. PubMed ID: 19578027
    [Abstract] [Full Text] [Related]

  • 6. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb 15; 49(2):751-7. PubMed ID: 18235024
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  • 7. 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 15; 39(12):2417-26. PubMed ID: 9804150
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  • 8. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Aug 15; 41(9):2735-42. PubMed ID: 10937591
    [Abstract] [Full Text] [Related]

  • 9. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug 15; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

  • 11. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
    Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Aug 15; 51(8):3884-92. PubMed ID: 20220053
    [Abstract] [Full Text] [Related]

  • 12. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):70-9. PubMed ID: 20702822
    [Abstract] [Full Text] [Related]

  • 13. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
    Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2000 Nov 05; 41(12):3925-32. PubMed ID: 11053295
    [Abstract] [Full Text] [Related]

  • 14. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
    Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2006 Sep 05; 47(9):3736-44. PubMed ID: 16936081
    [Abstract] [Full Text] [Related]

  • 15. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA.
    Invest Ophthalmol Vis Sci; 2007 Jan 05; 48(1):332-8. PubMed ID: 17197551
    [Abstract] [Full Text] [Related]

  • 16. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.
    Ophthalmology; 2005 Aug 05; 112(8):1442-7. PubMed ID: 15953638
    [Abstract] [Full Text] [Related]

  • 17. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
    Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG.
    Ophthalmology; 2003 Mar 05; 110(3):549-58. PubMed ID: 12623820
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 19. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Dec 05; 41(13):4293-9. PubMed ID: 11095629
    [Abstract] [Full Text] [Related]

  • 20. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
    Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J.
    Invest Ophthalmol Vis Sci; 2018 Oct 01; 59(12):5225-5236. PubMed ID: 30372751
    [Abstract] [Full Text] [Related]

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