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Journal Abstract Search

219 related items for PubMed ID: 12906118

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy.
    Wada Y, Abe T, Sato H, Tamai M.
    Arch Ophthalmol; 2001 Jul; 119(7):1059-63. PubMed ID: 11448328
    [Abstract] [Full Text] [Related]

  • 3. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
    Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3925-32. PubMed ID: 11053295
    [Abstract] [Full Text] [Related]

  • 4. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
    Nakamura M, Lin J, Miyake Y.
    Arch Ophthalmol; 2004 Aug; 122(8):1203-7. PubMed ID: 15302662
    [Abstract] [Full Text] [Related]

  • 5. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
    Niwa Y, Kondo M, Ueno S, Nakamura M, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2005 Apr; 46(4):1480-5. PubMed ID: 15790919
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
    Nakamura M, Miyake Y.
    Am J Ophthalmol; 2002 Feb; 133(2):278-80. PubMed ID: 11812441
    [Abstract] [Full Text] [Related]

  • 8. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
    Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP.
    Doc Ophthalmol; 2007 Sep; 115(2):111-6. PubMed ID: 17476461
    [Abstract] [Full Text] [Related]

  • 9. Macular dystrophy in a Japanese family with fundus albipunctatus.
    Hotta K, Nakamura M, Kondo M, Ito S, Terasaki H, Miyake Y, Hida T.
    Am J Ophthalmol; 2003 Jun; 135(6):917-9. PubMed ID: 12788147
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
    Wang NK, Chuang LH, Lai CC, Chou CL, Chu HY, Yeung L, Chen YP, Chen KJ, Wu WC, Chen TL, Chao AN, Hwang YS.
    Doc Ophthalmol; 2012 Aug; 125(1):51-62. PubMed ID: 22669287
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
    Sato M, Oshika T, Kaji Y, Nose H.
    Ophthalmic Res; 2004 Mar; 36(1):43-50. PubMed ID: 15007239
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
    Makiyama Y, Ooto S, Hangai M, Ogino K, Gotoh N, Oishi A, Yoshimura N.
    Am J Ophthalmol; 2014 Mar; 157(3):558-70.e1-4. PubMed ID: 24246574
    [Abstract] [Full Text] [Related]

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  • 17. 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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  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
    Kuroiwa S, Kikuchi T, Yoshimura N.
    Am J Ophthalmol; 2000 Nov; 130(5):672-5. PubMed ID: 11078852
    [Abstract] [Full Text] [Related]

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