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Journal Abstract Search

439 related items for PubMed ID: 23755871

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  • 2. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
    Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Br J Ophthalmol; 2009 May; 93(5):614-21. PubMed ID: 19028736
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  • 5. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
    Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
    Mol Vis; 2008 Feb 04; 14():262-7. PubMed ID: 18334942
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  • 7. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
    Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y.
    Invest Ophthalmol Vis Sci; 2016 Jan 01; 57(1):145-52. PubMed ID: 26780318
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  • 9. Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
    Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Mar 01; 48(3):985-90. PubMed ID: 17325136
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  • 11. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM.
    Invest Ophthalmol Vis Sci; 2019 Mar 01; 60(4):1192-1203. PubMed ID: 30913292
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  • 13. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS.
    Int J Mol Med; 2008 Jun 01; 21(6):715-20. PubMed ID: 18506364
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  • 14. Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
    Stenirri S, Battistella S, Soriani N, Bernal S, Baiget M, Ferrari M, Cremonesi L.
    Eur J Ophthalmol; 2007 Jun 01; 17(5):749-54. PubMed ID: 17932850
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  • 16. Association between genotype and phenotype in families with mutations in the ABCA4 gene.
    Kjellström U.
    Mol Vis; 2014 Jun 01; 20():89-104. PubMed ID: 24453473
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  • 18. Outcome of ABCA4 microarray screening in routine clinical practice.
    Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB.
    Mol Vis; 2009 Dec 20; 15():2841-7. PubMed ID: 20029649
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