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Journal Abstract Search

255 related items for PubMed ID: 22509104

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  • 2. Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
    Zhong Z, Rong F, Dai Y, Yibulayin A, Zeng L, Liao J, Wang L, Huang Z, Zhou Z, Chen J.
    Mol Vis; 2019; 25():204-214. PubMed ID: 30996589
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  • 6. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
    Glen WB, Peterseim MMW, Badilla R, Znoyko I, Bourg A, Wilson R, Hardiman G, Wolff D, Martinez J.
    Ophthalmic Genet; 2019 Apr; 40(2):110-117. PubMed ID: 30870047
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  • 7. 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
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  • 9. De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
    Zou X, Yao F, Liang X, Xu F, Li H, Sui R, Dong F.
    Ophthalmic Genet; 2015 Mar; 36(1):21-6. PubMed ID: 24001014
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  • 11. 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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  • 12. RPE65 and retinal dystrophy: Report of new and recurrent mutations.
    Safari S, Zare-Abdollahi D, Bushehri A, Safari MR, Dehghani A, Tahmasebi Z, Khorram Khorshid HR, Ghadami M.
    J Gene Med; 2020 Mar; 22(3):e3154. PubMed ID: 31957135
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  • 15. Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
    Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2013 Feb 15; 54(2):1378-83. PubMed ID: 23341016
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  • 16. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
    Astuti GD, Bertelsen M, Preising MN, Ajmal M, Lorenz B, Faradz SM, Qamar R, Collin RW, Rosenberg T, Cremers FP.
    Eur J Hum Genet; 2016 Jul 15; 24(7):1071-9. PubMed ID: 26626312
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  • 18. Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
    Motta FL, Martin RP, Porto FBO, Wohler ES, Resende RG, Gomes CP, Pesquero JB, Sallum JMF.
    Genes (Basel); 2019 Dec 24; 11(1):. PubMed ID: 31878136
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