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Journal Abstract Search

133 related items for PubMed ID: 11559858

  • 21. Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.
    Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.
    Ophthalmic Genet; 2001 Sep; 22(3):187-94. PubMed ID: 11559860
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  • 22. CRB1: one gene, many phenotypes.
    Ehrenberg M, Pierce EA, Cox GF, Fulton AB.
    Semin Ophthalmol; 2013 Sep; 28(5-6):397-405. PubMed ID: 24138049
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  • 23. Mutation screening of Pakistani families with congenital eye disorders.
    Khaliq S, Abid A, Hameed A, Anwar K, Mohyuddin A, Azmat Z, Shami SA, Ismail M, Mehdi SQ.
    Exp Eye Res; 2003 Mar; 76(3):343-8. PubMed ID: 12573663
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  • 24. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
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  • 25. CRB2 mutation causes autosomal recessive retinitis pigmentosa.
    Chen X, Jiang C, Yang D, Sun R, Wang M, Sun H, Xu M, Zhou L, Chen M, Xie P, Yan B, Liu Q, Zhao C.
    Exp Eye Res; 2019 Mar 10; 180():164-173. PubMed ID: 30593785
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  • 26. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
    van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI.
    Mol Vis; 2005 Apr 15; 11():263-73. PubMed ID: 15851977
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  • 27. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
    Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2006 Jan 15; 47(1):34-42. PubMed ID: 16384941
    [Abstract] [Full Text] [Related]

  • 28. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
    Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.
    Invest Ophthalmol Vis Sci; 2003 Apr 15; 44(4):1458-63. PubMed ID: 12657579
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  • 34. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
    Wada Y, Abe T, Takeshita T, Sato H, Yanashima K, Tamai M.
    Invest Ophthalmol Vis Sci; 2001 Sep 15; 42(10):2395-400. PubMed ID: 11527955
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  • 36. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 15; 35(3):130-7. PubMed ID: 23767994
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  • 38. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec 15; 48(12):5653-61. PubMed ID: 18055816
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