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Journal Abstract Search

90 related items for PubMed ID: 17200654

  • 1. Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction.
    Yoshida S, Yamaji Y, Yoshida A, Ikeda Y, Yamamoto K, Ishibashi T.
    Mol Vis; 2006 Dec 06; 12():1552-7. PubMed ID: 17200654
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  • 2. Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
    Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N.
    Jpn J Ophthalmol; 2004 Dec 06; 48(4):350-2. PubMed ID: 15295660
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  • 5. A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.
    McKay GJ, Clarke S, Hughes A, McConnell V, Schultz DW, Klein ML, Silvestri G, Simpson DA.
    Mol Vis; 2004 Sep 24; 10():682-7. PubMed ID: 15467524
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  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 24; 56(3):105-52. PubMed ID: 19728970
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  • 11. Application of real-time PCR and melting curve analysis in rapid detection of Ael and Bel blood types.
    Chen DP, Tseng CP, Lin HT, Sun CF.
    Ann Clin Lab Sci; 2005 Aug 24; 35(1):25-30. PubMed ID: 15830706
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  • 12. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
    Huang L, Li W, Tang W, Zhu X, Ou-Yang P, Lu G.
    Mol Vis; 2012 Aug 24; 18():528-36. PubMed ID: 22419846
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  • 14. A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report.
    Deng Z, Fan F, Tang D, Wu Y, Shu Y, Wu K.
    BMC Ophthalmol; 2022 Mar 04; 22(1):99. PubMed ID: 35246075
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  • 15. Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
    Tawfik CA, Elbagoury NM, Khater NI, Essawi ML.
    BMC Ophthalmol; 2022 May 12; 22(1):217. PubMed ID: 35549688
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  • 16. Mutations in NYX of individuals with high myopia, but without night blindness.
    Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF.
    Mol Vis; 2007 Mar 01; 13():330-6. PubMed ID: 17392683
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  • 17. Rapid triplex asymmetric real-time PCR hybridization probe assay for the joint genotyping of F2, F5 and F12.
    Martínez-Serra J, Gutierrez A, Amat JC, Galmés B, Vila A, Julia M, López H, Bautista AM, Truyols C, Ros T, Navarro M, Canaro M, Díaz M, Besalduch J.
    Clin Biochem; 2009 Aug 01; 42(12):1317-24. PubMed ID: 19422815
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  • 18. Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
    Nakamachi Y, Nakamura M, Fujii S, Yamamoto M, Okubo K.
    Am J Ophthalmol; 1998 Feb 01; 125(2):249-51. PubMed ID: 9467455
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  • 19. 1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease.
    Yamada T, Matsumoto M, Kadoi C, Nagaki Y, Hayasaka Y, Hayasaka S.
    Ophthalmic Genet; 1999 Jun 01; 20(2):117-20. PubMed ID: 10420197
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  • 20. Genotyping microarray for CSNB-associated genes.
    Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
    Invest Ophthalmol Vis Sci; 2009 Dec 01; 50(12):5919-26. PubMed ID: 19578023
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