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Journal Abstract Search

288 related items for PubMed ID: 31136651

  • 1. Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.
    Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.
    Invest Ophthalmol Vis Sci; 2019 May 01; 60(6):2347-2356. PubMed ID: 31136651
    [Abstract] [Full Text] [Related]

  • 2. Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
    Liang J, She X, Chen J, Zhai Y, Liu Y, Zheng K, Gong Y, Zhu H, Luo X, Sun X.
    Graefes Arch Clin Exp Ophthalmol; 2019 Mar 01; 257(3):619-628. PubMed ID: 30588538
    [Abstract] [Full Text] [Related]

  • 3. Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.
    Lin TY, Wu PL, Kang EY, Chi YC, Jenny LA, Lin PH, Lee CY, Liu CH, Liu L, Yeh LK, Chen KJ, Hwang YS, Wu WC, Lai CC, Hsiao MC, Liu PK, Wang NK.
    Invest Ophthalmol Vis Sci; 2023 Nov 01; 64(14):25. PubMed ID: 37975849
    [Abstract] [Full Text] [Related]

  • 4. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
    Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.
    Mol Vis; 2018 Nov 01; 24():326-339. PubMed ID: 29769798
    [Abstract] [Full Text] [Related]

  • 5. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
    Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL.
    Invest Ophthalmol Vis Sci; 2010 Sep 01; 51(9):4771-80. PubMed ID: 20393116
    [Abstract] [Full Text] [Related]

  • 6. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
    Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E.
    Invest Ophthalmol Vis Sci; 2013 Jan 30; 54(1):898-908. PubMed ID: 23221069
    [Abstract] [Full Text] [Related]

  • 7. Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
    Schroeder M, Kjellström U.
    Mol Vis; 2018 Jan 30; 24():1-16. PubMed ID: 29386879
    [Abstract] [Full Text] [Related]

  • 8. Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.
    Park JC, Collison FT, Fishman GA, McAnany JJ.
    Transl Vis Sci Technol; 2020 Aug 30; 9(9):26. PubMed ID: 32879782
    [Abstract] [Full Text] [Related]

  • 9. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.
    Doc Ophthalmol; 2020 Apr 30; 140(2):147-157. PubMed ID: 31583501
    [Abstract] [Full Text] [Related]

  • 10. Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.
    Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM.
    Invest Ophthalmol Vis Sci; 2019 Nov 01; 60(14):4811-4819. PubMed ID: 31743939
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.
    Kim DJ, Woo SJ, Joo K.
    Ophthalmic Res; 2024 Nov 01; 67(1):9-22. PubMed ID: 38091967
    [Abstract] [Full Text] [Related]

  • 12. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
    Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, Cideciyan AV, Jacobson SG.
    Ophthalmic Genet; 2016 Sep 01; 37(3):333-8. PubMed ID: 26854980
    [Abstract] [Full Text] [Related]

  • 13. Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
    Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P.
    Ophthalmol Retina; 2020 Jul 01; 4(7):737-749. PubMed ID: 32646556
    [Abstract] [Full Text] [Related]

  • 14. Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
    Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C.
    Am J Ophthalmol; 2019 Nov 01; 207():204-214. PubMed ID: 31129250
    [Abstract] [Full Text] [Related]

  • 15. 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 Nov 01; 23():198-209. PubMed ID: 28442884
    [Abstract] [Full Text] [Related]

  • 16. Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
    Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE.
    JAMA Netw Open; 2019 Jun 05; 2(6):e195752. PubMed ID: 31199449
    [Abstract] [Full Text] [Related]

  • 17. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct 05; 109(10):1862-70. PubMed ID: 12359607
    [Abstract] [Full Text] [Related]

  • 18. Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
    Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.
    Ophthalmic Genet; 2021 Jun 05; 42(3):252-265. PubMed ID: 33729075
    [Abstract] [Full Text] [Related]

  • 19. Modification of the PROM1 disease phenotype by a mutation in ABCA4.
    Lee W, Paavo M, Zernant J, Stong N, Laurente Z, Bearelly S, Nagasaki T, Tsang SH, Goldstein DB, Allikmets R.
    Ophthalmic Genet; 2019 Aug 05; 40(4):369-375. PubMed ID: 31576780
    [Abstract] [Full Text] [Related]

  • 20. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    Abad-Morales V, Burés-Jelstrup A, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcóstegui B, Pomares E.
    Exp Eye Res; 2019 Oct 05; 187():107752. PubMed ID: 31394102
    [Abstract] [Full Text] [Related]

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