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Journal Abstract Search

137 related items for PubMed ID: 10845614

  • 1. 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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  • 2. 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
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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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  • 4. 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 30; 41(12):3933-5. PubMed ID: 11053296
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  • 5. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
    Wada Y, Abe T, Takeshita T, Sato H, Yanashima K, Tamai M.
    Invest Ophthalmol Vis Sci; 2001 Sep 30; 42(10):2395-400. PubMed ID: 11527955
    [Abstract] [Full Text] [Related]

  • 6. 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 Sep 30; 36(1):43-50. PubMed ID: 15007239
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  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
    Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP.
    Nat Genet; 1999 Jun 30; 22(2):188-91. PubMed ID: 10369264
    [Abstract] [Full Text] [Related]

  • 9. 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 30; 130(5):672-5. PubMed ID: 11078852
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  • 16. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr 30; 47(4):1630-5. PubMed ID: 16565402
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  • 17. Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
    Wada Y, Tada A, Itabashi T, Kawamura M, Sato H, Tamai M.
    Am J Ophthalmol; 2005 Jul 30; 140(1):163-5. PubMed ID: 16038673
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  • 18. 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 30; 157(3):558-70.e1-4. PubMed ID: 24246574
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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. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
    Nakamura M, Lin J, Miyake Y.
    Arch Ophthalmol; 2004 Aug 30; 122(8):1203-7. PubMed ID: 15302662
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