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Journal Abstract Search

347 related items for PubMed ID: 31576780

  • 1. 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; 40(4):369-375. PubMed ID: 31576780
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  • 2. Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
    Schroeder M, Kjellström U.
    Mol Vis; 2018 Aug; 24():1-16. PubMed ID: 29386879
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  • 4. Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
    Garces F, Jiang K, Molday LL, Stöhr H, Weber BH, Lyons CJ, Maberley D, Molday RS.
    Invest Ophthalmol Vis Sci; 2018 May 01; 59(6):2305-2315. PubMed ID: 29847635
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  • 7. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
    Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R.
    Invest Ophthalmol Vis Sci; 2012 Jul 03; 53(8):4458-67. PubMed ID: 22661473
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  • 12. Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.
    Lee W, Zernant J, Nagasaki T, Tsang SH, Allikmets R.
    Am J Ophthalmol; 2018 Nov 03; 195():16-25. PubMed ID: 30055151
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  • 13. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.
    Sun Z, Yang L, Li H, Zou X, Wang L, Wu S, Zhu T, Wei X, Zhong Y, Sui R.
    Exp Eye Res; 2021 Jan 03; 202():108389. PubMed ID: 33301772
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  • 14. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.
    Qu LH, Jin X, Zeng C, Zhou NG, Liu YH, Lin Y.
    Biosci Rep; 2021 Jun 25; 41(6):. PubMed ID: 33988224
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  • 15. Clinical and genetic characteristics of late-onset Stargardt's disease.
    Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB.
    Ophthalmology; 2012 Jun 25; 119(6):1199-210. PubMed ID: 22449572
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  • 17. Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.
    Xiang Q, Cao Y, Xu H, Guo Y, Yang Z, Xu L, Yuan L, Deng H.
    Biosci Rep; 2019 Jan 31; 39(1):. PubMed ID: 30563929
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  • 18. PROM1 gene variations in Brazilian patients with macular dystrophy.
    Salles MV, Motta FL, Dias da Silva E, Varela Lima Teixeira P, Antunes Costa K, Filippelli-Silva R, Martin R, Pesquero JB, Ferraz Sallum JM.
    Ophthalmic Genet; 2017 Jan 31; 38(1):39-42. PubMed ID: 28095140
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  • 19. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
    Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C.
    Am J Ophthalmol; 2020 Nov 31; 219():195-204. PubMed ID: 32619608
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  • 20. Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
    Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I.
    Int J Mol Sci; 2018 Jul 27; 19(8):. PubMed ID: 30060493
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