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Journal Abstract Search

166 related items for PubMed ID: 16038673

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  • 2. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
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  • 5. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
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  • 7. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
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  • 9. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
    Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M.
    Am J Ophthalmol; 2005 Sep 02; 140(3):537-40. PubMed ID: 16139010
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  • 10. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
    Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2006 Jan 02; 47(1):34-42. PubMed ID: 16384941
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  • 14. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
    Wada Y, Nakazawa M, Abe T, Tamai M.
    Invest Ophthalmol Vis Sci; 2000 Jan 02; 41(1):290-3. PubMed ID: 10634633
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  • 15. [Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
    Teng Y, Tian H, Wang H, Hu X, Chen Y, Yang Z, Wang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr 02; 20(2):164-6. PubMed ID: 12673590
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  • 17. 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 02; 47(4):1630-5. PubMed ID: 16565402
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  • 19. Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene.
    Wada Y, Itabashi T, Sato H, Tamai M.
    Graefes Arch Clin Exp Ophthalmol; 2004 Nov 02; 242(11):956-61. PubMed ID: 15085354
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