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Journal Abstract Search

135 related items for PubMed ID: 38768745

  • 1. 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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  • 4. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
    Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.
    Invest Ophthalmol Vis Sci; 2012 Jun 08; 53(7):3463-72. PubMed ID: 22531706
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  • 5. 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 08; 45(3):303-312. PubMed ID: 38323530
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  • 6. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
    Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF.
    Ophthalmol Retina; 2022 Aug 08; 6(8):711-722. PubMed ID: 35314386
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  • 8. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
    Kumaran N, Moore AT, Weleber RG, Michaelides M.
    Br J Ophthalmol; 2017 Sep 08; 101(9):1147-1154. PubMed ID: 28689169
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  • 9. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2011 May 09; 52(6):3032-8. PubMed ID: 21310915
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  • 11. 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 09; 124(6):884-895. PubMed ID: 28341475
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  • 13. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
    Bouzia Z, Georgiou M, Hull S, Robson AG, Fujinami K, Rotsos T, Pontikos N, Arno G, Webster AR, Hardcastle AJ, Fiorentino A, Michaelides M.
    Am J Ophthalmol; 2020 Feb 09; 210():59-70. PubMed ID: 31704230
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  • 15. Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.
    Zhou Y, Huang L, Xie Y, Liu W, Zhang S, Liu L, Lin P, Li N.
    Graefes Arch Clin Exp Ophthalmol; 2024 Sep 09; 262(9):3029-3038. PubMed ID: 38662103
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  • 16. Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
    Hashem SA, Georgiou M, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Ali N, Mahroo OA, Webster AR, Fujinami K, Michaelides M.
    Am J Ophthalmol; 2024 Jul 09; 263():1-10. PubMed ID: 38364953
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