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240 related items for PubMed ID: 18281613

  • 1. 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; 49(6):2651-60. PubMed ID: 18281613
    [Abstract] [Full Text] [Related]

  • 2. Normal central retinal function and structure preserved in retinitis pigmentosa.
    Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EA, Atkinson LA, Schwartz SB, Steinberg JD, Cideciyan AV.
    Invest Ophthalmol Vis Sci; 2010 Feb; 51(2):1079-85. PubMed ID: 19797198
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [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; 50(12):5944-54. PubMed ID: 19578027
    [Abstract] [Full Text] [Related]

  • 6. 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; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
    Jacobson SG, Kemp CM, Cideciyan AV, Macke JP, Sung CH, Nathans J.
    Invest Ophthalmol Vis Sci; 1994 Apr 05; 35(5):2521-34. PubMed ID: 8163341
    [Abstract] [Full Text] [Related]

  • 10. Concentric retinitis pigmentosa: clinicopathologic correlations.
    Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG.
    Exp Eye Res; 2001 Oct 05; 73(4):493-508. PubMed ID: 11825021
    [Abstract] [Full Text] [Related]

  • 11. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
    Birch DG, Anderson JL, Fish GE.
    Ophthalmology; 1999 Feb 05; 106(2):258-68. PubMed ID: 9951474
    [Abstract] [Full Text] [Related]

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  • 13. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
    Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.
    Hum Mutat; 2008 Mar 05; 29(3):451. PubMed ID: 18273898
    [Abstract] [Full Text] [Related]

  • 14. Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.
    Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG.
    Am J Ophthalmol; 2018 Sep 05; 193():114-129. PubMed ID: 29953849
    [Abstract] [Full Text] [Related]

  • 15. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 2007 Mar 05; 48(3):1298-304. PubMed ID: 17325176
    [Abstract] [Full Text] [Related]

  • 16. Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.
    Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ.
    Mol Vis; 2007 Aug 30; 13():1539-47. PubMed ID: 17893653
    [Abstract] [Full Text] [Related]

  • 17. Longterm visual prognosis in Usher syndrome types 1 and 2.
    Sadeghi AM, Eriksson K, Kimberling WJ, Sjöström A, Möller C.
    Acta Ophthalmol Scand; 2006 Aug 30; 84(4):537-44. PubMed ID: 16879578
    [Abstract] [Full Text] [Related]

  • 18. Visual impairment in Finnish Usher syndrome type III.
    Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF.
    Acta Ophthalmol Scand; 2006 Feb 30; 84(1):36-41. PubMed ID: 16445437
    [Abstract] [Full Text] [Related]

  • 19. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2013 Jul 12; 54(7):4683-90. PubMed ID: 23788369
    [Abstract] [Full Text] [Related]

  • 20. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
    Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC.
    Ophthalmology; 2016 May 12; 123(5):1151-60. PubMed ID: 26927203
    [Abstract] [Full Text] [Related]

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