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545 related items for PubMed ID: 19578027

  • 1. 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; 50(12):5944-54. PubMed ID: 19578027
    [Abstract] [Full Text] [Related]

  • 2. 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; 39(12):2417-26. PubMed ID: 9804150
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
    Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2006 Nov 05; 47(11):5004-10. PubMed ID: 17065520
    [Abstract] [Full Text] [Related]

  • 5. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T.
    Invest Ophthalmol Vis Sci; 2007 Dec 05; 48(12):5431-8. PubMed ID: 18055789
    [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 05; 49(2):751-7. PubMed ID: 18235024
    [Abstract] [Full Text] [Related]

  • 7. 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 05; 48(4):1824-31. PubMed ID: 17389517
    [Abstract] [Full Text] [Related]

  • 8. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec 05; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 9. 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 05; 51(8):3884-92. PubMed ID: 20220053
    [Abstract] [Full Text] [Related]

  • 10. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
    Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2008 Jun 05; 49(6):2651-60. PubMed ID: 18281613
    [Abstract] [Full Text] [Related]

  • 11. 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 05; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

  • 12. Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
    Burstedt MS, Ristoff E, Larsson A, Wachtmeister L.
    Ophthalmology; 2009 Feb 05; 116(2):324-31. PubMed ID: 19111905
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. 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 01; 41(9):2735-42. PubMed ID: 10937591
    [Abstract] [Full Text] [Related]

  • 16. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.
    Am J Ophthalmol; 2008 Jun 01; 145(6):1099-106. PubMed ID: 18400204
    [Abstract] [Full Text] [Related]

  • 17. Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography.
    Park SJ, Woo SJ, Park KH, Hwang JM, Chung H.
    Invest Ophthalmol Vis Sci; 2010 Jul 01; 51(7):3673-9. PubMed ID: 20164460
    [Abstract] [Full Text] [Related]

  • 18. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
    Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI.
    Invest Ophthalmol Vis Sci; 2009 May 01; 50(5):2344-50. PubMed ID: 19074807
    [Abstract] [Full Text] [Related]

  • 19. Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.
    Khan AO, Abu-Safieh L.
    Ophthalmic Genet; 2015 May 01; 36(4):369-72. PubMed ID: 24547929
    [Abstract] [Full Text] [Related]

  • 20. Optical coherence tomography findings in occult macular dystrophy.
    Brockhurst RJ, Sandberg MA.
    Am J Ophthalmol; 2007 Mar 01; 143(3):516-8. PubMed ID: 17317401
    [Abstract] [Full Text] [Related]

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