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Journal Abstract Search

224 related items for PubMed ID: 23769331

  • 1. The clinical effect of homozygous ABCA4 alleles in 18 patients.
    Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.
    Ophthalmology; 2013 Nov; 120(11):2324-31. PubMed ID: 23769331
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  • 3. 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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  • 4. Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.
    Salles MV, Motta FL, Dias da Silva E, Varela P, Costa KA, Filippelli-Silva R, Martin RP, Chiang JP, Pesquero JB, Sallum JMF.
    Invest Ophthalmol Vis Sci; 2017 Nov 01; 58(13):5723-5730. PubMed ID: 29114839
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  • 5. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
    Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S.
    Ophthalmology; 2016 Jun 01; 123(6):1375-85. PubMed ID: 26976702
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  • 10. 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 01; 119(6):1199-210. PubMed ID: 22449572
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  • 12. Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
    Oh KT, Weleber RG, Stone EM, Oh DM, Rosenow J, Billingslea AM.
    Retina; 2004 Dec 01; 24(6):920-8. PubMed ID: 15579991
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  • 13. Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
    Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C.
    Ophthalmology; 2013 Nov 01; 120(11):2332-7. PubMed ID: 23755871
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  • 14. The external limiting membrane in early-onset Stargardt disease.
    Lee W, Nõupuu K, Oll M, Duncker T, Burke T, Zernant J, Bearelly S, Tsang SH, Sparrow JR, Allikmets R.
    Invest Ophthalmol Vis Sci; 2014 Aug 19; 55(10):6139-49. PubMed ID: 25139735
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  • 15. ABCA4 gene screening by next-generation sequencing in a British cohort.
    Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Webster AR, Moore AT, Allikmets R, Michaelides M.
    Invest Ophthalmol Vis Sci; 2013 Oct 11; 54(10):6662-74. PubMed ID: 23982839
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  • 16. Foveal sparing in Stargardt disease.
    van Huet RA, Bax NM, Westeneng-Van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB.
    Invest Ophthalmol Vis Sci; 2014 Oct 16; 55(11):7467-78. PubMed ID: 25324290
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  • 18. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
    Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R.
    Ophthalmic Res; 2004 Oct 16; 36(2):82-8. PubMed ID: 15017103
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  • 20. ABCA4 variant screening in a Turkish cohort with Stargardt disease.
    Sinim Kahraman N, Özgüç Çalışkan B, Kandemir N, Öner A, Dündar M, Özkul Y.
    Ophthalmic Genet; 2024 Apr 16; 45(2):133-139. PubMed ID: 38369462
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