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Journal Abstract Search

379 related items for PubMed ID: 31734136

  • 1. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
    Feldhaus B, Weisschuh N, Nasser F, den Hollander AI, Cremers FPM, Zrenner E, Kohl S, Zobor D.
    Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
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  • 2. Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
    Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M.
    Ophthalmology; 2018 Jun; 125(6):894-903. PubMed ID: 29398085
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  • 6. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.
    Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
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  • 7. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
    Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM.
    Ophthalmology; 2010 Jun; 117(6):1190-8. PubMed ID: 20079931
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  • 10. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
    Yzer S, Hollander AI, Lopez I, Pott JW, de Faber JT, Cremers FP, Koenekoop RK, van den Born LI.
    Mol Vis; 2012 Jun; 18():412-25. PubMed ID: 22355252
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  • 11. Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.
    Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV.
    Invest Ophthalmol Vis Sci; 2019 Jun 03; 60(7):2551-2562. PubMed ID: 31212307
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  • 13. Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
    Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F.
    Invest Ophthalmol Vis Sci; 2021 Jul 01; 62(9):1. PubMed ID: 34196655
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  • 14. [The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
    Preising MN, Schneider U, Friedburg C, Gruber H, Lindner S, Lorenz B.
    Klin Monbl Augenheilkd; 2019 Mar 01; 236(3):244-252. PubMed ID: 30897646
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  • 15. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
    Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, Cideciyan AV, Hauswirth WW, Jacobson SG.
    PLoS One; 2014 Mar 01; 9(3):e92928. PubMed ID: 24671090
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  • 16. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
    Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M.
    Invest Ophthalmol Vis Sci; 2010 May 01; 51(5):2608-14. PubMed ID: 19959640
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  • 17. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
    Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, Cideciyan AV, Jacobson SG.
    Ophthalmic Genet; 2016 Sep 01; 37(3):333-8. PubMed ID: 26854980
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  • 20. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
    Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I.
    JAMA Ophthalmol; 2019 Jun 01; 137(6):669-679. PubMed ID: 30998820
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