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Journal Abstract Search

338 related items for PubMed ID: 30979730

  • 1. Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
    Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M.
    Br J Ophthalmol; 2019 Dec; 103(12):1789-1796. PubMed ID: 30979730
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  • 4. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
    Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.
    Am J Ophthalmol; 2019 Mar; 199():58-70. PubMed ID: 30268864
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  • 6. Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
    Daich Varela M, Jeste M, de Guimaraes TAC, Mahroo OA, Arno G, Webster AR, Michaelides M.
    Am J Ophthalmol; 2024 Oct; 266():255-263. PubMed ID: 38768745
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  • 8. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
    Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
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  • 9. 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
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  • 10. 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 01; 126(11):1557-1566. PubMed ID: 31257036
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  • 11. Elevation deficiency in children with recessive RDH12-related retinopathy.
    AlBakri A, Alkuraya FS, Khan AO.
    J AAPOS; 2015 Dec 01; 19(6):568-70. PubMed ID: 26691045
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  • 12. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.
    Invest Ophthalmol Vis Sci; 2012 Jun 22; 53(7):3927-38. PubMed ID: 22570351
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  • 13. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016 Jun 22; 37(1):68-75. PubMed ID: 25113443
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  • 14. Macula-predominant retinopathy associated with biallelic variants in RDH12.
    Ba-Abbad R, Arno G, Robson AG, Bouras K, Georgiou M, Wright G, Webster AR, Michaelides M.
    Ophthalmic Genet; 2020 Dec 22; 41(6):612-615. PubMed ID: 32790509
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  • 15. ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
    De Zaeytijd J, Van Cauwenbergh C, De Bruyne M, Van Heetvelde M, De Baere E, Coppieters F, Leroy BP.
    Retina; 2021 Jun 01; 41(6):1346-1355. PubMed ID: 34001834
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  • 16. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Jun 01; 26():423-433. PubMed ID: 32565670
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  • 17. 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 01; 48(4):1824-31. PubMed ID: 17389517
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  • 18. Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
    Fahim AT, Thompson DA.
    Adv Exp Med Biol; 2019 Apr 01; 1185():209-213. PubMed ID: 31884613
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  • 19. RDH12 retinopathy: novel mutations and phenotypic description.
    Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT.
    Mol Vis; 2011 Apr 01; 17():2706-16. PubMed ID: 22065924
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  • 20. Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.
    Daich Varela M, Dixit M, Kalitzeos A, Michaelides M.
    Invest Ophthalmol Vis Sci; 2024 Mar 05; 65(3):9. PubMed ID: 38466282
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