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PUBMED FOR HANDHELDS

Journal Abstract Search


233 related items for PubMed ID: 23143909

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  • 4. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
    Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC.
    Mol Vis; 2006 Dec 04; 12():1483-9. PubMed ID: 17167404
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  • 5. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
    Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H.
    Optom Vis Sci; 2012 May 04; 89(5):684-91. PubMed ID: 22504327
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  • 7. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.
    Am J Ophthalmol; 2008 Jun 04; 145(6):1099-106. PubMed ID: 18400204
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  • 14. Pathognomonic (diagnostic) ERGs. A review and update.
    Vincent A, Robson AG, Holder GE.
    Retina; 2013 Jan 04; 33(1):5-12. PubMed ID: 23263253
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  • 16. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
    Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA.
    Mol Vis; 2009 Sep 05; 15():1794-8. PubMed ID: 19753314
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  • 18. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2013 Jul 12; 54(7):4683-90. PubMed ID: 23788369
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  • 19. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 12; 118(5):888-94. PubMed ID: 21211845
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