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Journal Abstract Search

243 related items for PubMed ID: 21147909

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  • 5. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
    Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.
    Invest Ophthalmol Vis Sci; 2014 Aug 05; 55(10):6213-23. PubMed ID: 25097241
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  • 6. 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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  • 8. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
    McLaughlin ME, Sandberg MA, Berson EL, Dryja TP.
    Nat Genet; 1993 Jun 02; 4(2):130-4. PubMed ID: 8394174
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  • 14. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
    Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG.
    J Pathol; 2011 Sep 02; 225(1):12-8. PubMed ID: 21792934
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