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Journal Abstract Search

185 related items for PubMed ID: 35006499

  • 1. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
    Jin J, Liang L, Jin K, Zhang HJ, Liu R, Shen Y.
    Brain Topogr; 2022 Jul; 35(4):525-535. PubMed ID: 35006499
    [Abstract] [Full Text] [Related]

  • 2. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R.
    Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
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  • 3. 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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  • 4. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
    Sun W, Gerth C, Maeda A, Lodowski DT, Van Der Kraak L, Saperstein DA, Héon E, Palczewski K.
    Vision Res; 2007 Jul; 47(15):2055-66. PubMed ID: 17512964
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  • 5. 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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  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.
    Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
    [Abstract] [Full Text] [Related]

  • 8. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
    Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C.
    Ophthalmic Genet; 2024 Jun; 45(3):303-312. PubMed ID: 38323530
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 10. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
    Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C.
    Ophthalmology; 2014 Jan 10; 121(1):399-407. PubMed ID: 24144451
    [Abstract] [Full Text] [Related]

  • 11. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
    Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.
    Prog Retin Eye Res; 2024 May 10; 100():101244. PubMed ID: 38278208
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  • 16. 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 10; 48(4):1824-31. PubMed ID: 17389517
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  • 20. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.
    Ophthalmology; 2017 Jun 10; 124(6):884-895. PubMed ID: 28341475
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