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Journal Abstract Search

460 related items for PubMed ID: 16354621

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  • 2. Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
    Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G.
    Ann Hum Genet; 2008 Jan; 72(Pt 1):26-34. PubMed ID: 17803723
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  • 4. 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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  • 5. 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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  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 17; 56(3):105-52. PubMed ID: 19728970
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  • 11. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
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  • 12. Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.
    Abd El-Aziz MM, Patel RJ, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Ophthalmic Res; 2006 Nov 02; 38(1):19-23. PubMed ID: 16192744
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  • 13. 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 02; 51(9):4387-94. PubMed ID: 20375346
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