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Journal Abstract Search

674 related items for PubMed ID: 27880076

  • 1. Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.
    Trichonas G, Traboulsi EI, Ehlers JP.
    Ophthalmic Genet; 2017; 38(4):320-324. PubMed ID: 27880076
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  • 3. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
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  • 4. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
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  • 10. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
    Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M.
    Am J Ophthalmol; 2023 Feb; 246():107-121. PubMed ID: 36099972
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  • 11. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D.
    Acta Ophthalmol; 2015 Jun; 93(4):e281-6. PubMed ID: 25429852
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  • 13. Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.
    Bodenbender JP, Bethge L, Stingl K, Mazzola P, Haack T, Biskup S, Wissinger B, Weisschuh N, Kohl S, Kühlewein L.
    Am J Ophthalmol; 2024 Nov; 267():213-229. PubMed ID: 38909744
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  • 16. Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.
    Mustafic N, Ristoldo F, Nguyen V, Fraser CL, Invernizzi A, Jamieson RV, Grigg JR.
    Doc Ophthalmol; 2020 Dec; 141(3):205-215. PubMed ID: 32240425
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  • 20. Patterns of Autofluorescence in Common Genotypes of Retinitis Pigmentosa.
    Dowd-Schoeman TJ, Rosenbloom J, Ameri H.
    Ophthalmic Surg Lasers Imaging Retina; 2021 Aug; 52(8):426-431. PubMed ID: 34410191
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