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Journal Abstract Search

200 related items for PubMed ID: 33886416

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  • 3. A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.
    Mermeklieva E, Kamenarova K, Mihova K, Shakola F, Kaneva R.
    Ophthalmic Genet; 2021 Dec; 42(6):747-752. PubMed ID: 34229535
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  • 10. PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
    Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I.
    Retina; 2020 Aug; 40(8):1603-1615. PubMed ID: 31479088
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  • 11. Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
    Beigi F, Del Pozo-Valero M, Martin-Merida I, Perea-Romero I, Manaviat MR, Ayuso C, Ghasemi N.
    Exp Eye Res; 2021 Jun; 207():108533. PubMed ID: 33741323
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  • 12. Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
    Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M.
    Ophthalmology; 2018 Jun; 125(6):894-903. PubMed ID: 29398085
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  • 13. Correlation between fundus autofluorescence and visual function in patients with cone-rod dystrophy.
    Kanda S, Hara T, Fujino R, Azuma K, Soga H, Asaoka R, Obata R, Inoue T.
    Sci Rep; 2021 Jan 21; 11(1):1911. PubMed ID: 33479408
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  • 16. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
    Manes G, Mamouni S, Hérald E, Richard AC, Sénéchal A, Aouad K, Bocquet B, Meunier I, Hamel CP.
    Mol Vis; 2017 Jan 21; 23():198-209. PubMed ID: 28442884
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  • 17. Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.
    Lima LH, Zett C, Kniggendorf V, Marianelli B, de Carvalho RAP, Farah ME, Sallum JMF.
    Ophthalmic Genet; 2018 Aug 21; 39(4):492-499. PubMed ID: 29671671
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  • 18. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
    Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R.
    Am J Ophthalmol; 2023 Apr 21; 248():96-106. PubMed ID: 36493848
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