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PUBMED FOR HANDHELDS

Journal Abstract Search


302 related items for PubMed ID: 16637847

  • 1.
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  • 2. 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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  • 3. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
    Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC.
    Mol Vis; 1999 Dec 30; 5():41. PubMed ID: 10617778
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  • 5. Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
    Wang C, Nakanishi N, Ohishi K, Hikoya A, Koide K, Sato M, Nakamura M, Hotta Y, Minoshima S.
    Ophthalmic Genet; 2008 Mar 30; 29(1):29-32. PubMed ID: 18363170
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  • 7. 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 30; 46(4):1480-5. PubMed ID: 15790919
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  • 9. 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 30; 41(7):1894-7. PubMed ID: 10845614
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  • 11. 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 30; 56(3):317-27. PubMed ID: 25820994
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  • 12. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.
    Ophthalmology; 2007 Jan 30; 114(1):134-41. PubMed ID: 17070587
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  • 15. 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 Jan 30; 36(1):43-50. PubMed ID: 15007239
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  • 16. 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 30; 119(7):1059-63. PubMed ID: 11448328
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  • 18. 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 30; 107(1):3-11. PubMed ID: 12906118
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  • 19. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
    Nakamura M, Ito S, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2001 Jun 30; 42(7):1610-6. PubMed ID: 11381068
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  • 20. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
    Nakamura M, Miyake Y.
    Am J Ophthalmol; 2002 Feb 30; 133(2):278-80. PubMed ID: 11812441
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