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Journal Abstract Search

146 related items for PubMed ID: 22815624

  • 1. Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
    Pras E, Pras E, Reznik-Wolf H, Sharon D, Raivech S, Barkana Y, Abu-Horowitz A, Ygal R, Banin E.
    Mol Vis; 2012; 18():1712-8. PubMed ID: 22815624
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  • 2. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
    Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y.
    Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3933-5. PubMed ID: 11053296
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  • 6. RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
    Nakamura M, Skalet J, Miyake Y.
    Doc Ophthalmol; 2003 Jul; 107(1):3-11. PubMed ID: 12906118
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  • 7. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
    Wada Y, Abe T, Fuse N, Tamai M.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1894-7. PubMed ID: 10845614
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  • 9. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
    Driessen CA, Janssen BP, Winkens HJ, Kuhlmann LD, Van Vugt AH, Pinckers AJ, Deutman AF, Janssen JJ.
    Ophthalmology; 2001 Aug; 108(8):1479-84. PubMed ID: 11470705
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  • 12. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
    Yamamoto H, Yakushijin K, Kusuhara S, Escaño MF, Nagai A, Negi A.
    Am J Ophthalmol; 2003 Sep; 136(3):572-4. PubMed ID: 12967826
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  • 14. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
    Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K.
    Acta Ophthalmol Scand; 2006 Apr; 84(2):254-8. PubMed ID: 16637847
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  • 15. RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
    Liu X, Liu L, Li H, Xu F, Jiang R, Sui R.
    Retina; 2015 Mar; 35(3):582-9. PubMed ID: 25170858
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  • 16. Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
    Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR.
    J Appl Genet; 2015 Aug; 56(3):317-27. PubMed ID: 25820994
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  • 17. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
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  • 19. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
    Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR.
    Ophthalmology; 2011 Aug; 118(8):1661-70. PubMed ID: 21529959
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