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Journal Abstract Search

203 related items for PubMed ID: 21310491

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  • 2. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
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  • 4. Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
    Azam M, Collin RW, Malik A, Khan MI, Shah ST, Shah AA, Hussain A, Sadeque A, Arimadyo K, Ajmal M, Azam A, Qureshi N, Bokhari H, Strom TM, Cremers FP, Qamar R, den Hollander AI.
    Arch Ophthalmol; 2011 Oct; 129(10):1377-8. PubMed ID: 21987686
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  • 6. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 9. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
    Morimura H, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1999 Apr 17; 40(5):1000-4. PubMed ID: 10102299
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  • 12. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec 17; 30(12):1081-7. PubMed ID: 16354621
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  • 15. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep 17; 51(9):4387-94. PubMed ID: 20375346
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  • 16. Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
    Wang C, Nakanishi N, Ohishi K, Hikoya A, Koide K, Sato M, Nakamura M, Hotta Y, Minoshima S.
    Ophthalmic Genet; 2008 Mar 17; 29(1):29-32. PubMed ID: 18363170
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  • 17. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2004 Oct 17; 111(10):1910-6. PubMed ID: 15465556
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  • 18. Late onset retinitis pigmentosa.
    Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP.
    Ophthalmology; 2011 Dec 17; 118(12):2523-4. PubMed ID: 22136677
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  • 19. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
    Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP.
    Mol Vis; 2003 Feb 18; 9():49-51. PubMed ID: 12592226
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  • 20. Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.
    Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E.
    Ger J Ophthalmol; 1992 Feb 18; 1(5):319-27. PubMed ID: 1477634
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