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182 related items for PubMed ID: 18450588

  • 1. Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs.
    Jin ZB, Mandai M, Homma K, Ishigami C, Hirami Y, Nao-I N, Takahashi M.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):3799-805. PubMed ID: 18450588
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 02; 42(10):2395-400. PubMed ID: 11527955
    [Abstract] [Full Text] [Related]

  • 4. Targeted disruption of FSCN2 gene induces retinopathy in mice.
    Yokokura S, Wada Y, Nakai S, Sato H, Yao R, Yamanaka H, Ito S, Sagara Y, Takahashi M, Nakamura Y, Tamai M, Noda T.
    Invest Ophthalmol Vis Sci; 2005 Aug 02; 46(8):2905-15. PubMed ID: 16043865
    [Abstract] [Full Text] [Related]

  • 5. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.
    Tubb BE, Bardien-Kruger S, Kashork CD, Shaffer LG, Ramagli LS, Xu J, Siciliano MJ, Bryan J.
    Genomics; 2000 Apr 15; 65(2):146-56. PubMed ID: 10783262
    [Abstract] [Full Text] [Related]

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

  • 7. Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
    Nishiguchi KM, Berson EL, Dryja TP.
    Mol Vis; 2004 Jan 26; 10():62-4. PubMed ID: 14758335
    [Abstract] [Full Text] [Related]

  • 8. Selective degradation of nonsense beta-phosphodiesterase mRNA in the heterozygous rd mouse.
    Yan W, Lewin A, Hauswirth W.
    Invest Ophthalmol Vis Sci; 1998 Dec 26; 39(13):2529-36. PubMed ID: 9856762
    [Abstract] [Full Text] [Related]

  • 9. The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.
    Zhang Q, Li S, Xiao X, Jia X, Guo X.
    Invest Ophthalmol Vis Sci; 2007 Feb 26; 48(2):530-3. PubMed ID: 17251446
    [Abstract] [Full Text] [Related]

  • 10. [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
    Zhang X, Yeung KY, Pang CP, Fu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun 26; 19(3):194-7. PubMed ID: 12048676
    [Abstract] [Full Text] [Related]

  • 11. COLD-PCR: a new platform for highly improved mutation detection in cancer and genetic testing.
    Li J, Makrigiorgos GM.
    Biochem Soc Trans; 2009 Apr 26; 37(Pt 2):427-32. PubMed ID: 19290875
    [Abstract] [Full Text] [Related]

  • 12. Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
    Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I.
    Invest Ophthalmol Vis Sci; 2008 Jul 26; 49(7):3172-7. PubMed ID: 18344446
    [Abstract] [Full Text] [Related]

  • 13. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
    Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
    Invest Ophthalmol Vis Sci; 2005 Sep 26; 46(9):3052-9. PubMed ID: 16123401
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.
    Wada Y, Abe T, Itabashi T, Sato H, Kawamura M, Tamai M.
    Arch Ophthalmol; 2003 Nov 26; 121(11):1613-20. PubMed ID: 14609921
    [Abstract] [Full Text] [Related]

  • 15. Copy-number variations in EYS: a significant event in the appearance of arRP.
    Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.
    Invest Ophthalmol Vis Sci; 2011 Jul 29; 52(8):5625-31. PubMed ID: 21519034
    [Abstract] [Full Text] [Related]

  • 16. Multicolor real-time polymerase chain reaction genotyping of six human platelet antigens using displacing probes.
    Ruan L, Pei B, Li Q.
    Transfusion; 2007 Sep 29; 47(9):1637-42. PubMed ID: 17725728
    [Abstract] [Full Text] [Related]

  • 17. Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.
    Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi A, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S.
    J Med Genet; 2008 Jul 29; 45(7):465-72. PubMed ID: 18310263
    [Abstract] [Full Text] [Related]

  • 18. Two-temperature LATE-PCR endpoint genotyping.
    Sanchez JA, Abramowitz JD, Salk JJ, Reis AH, Rice JE, Pierce KE, Wangh LJ.
    BMC Biotechnol; 2006 Dec 04; 6():44. PubMed ID: 17144924
    [Abstract] [Full Text] [Related]

  • 19. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 04; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 20. Sequence variation within the RPGR gene: evidence for a founder complex allele.
    Zito I, Morris A, Tyson P, Winship I, Sharp D, Gilbert D, Thiselton DL, Bhattacharya SS, Hardcastle AJ.
    Hum Mutat; 2000 Sep 04; 16(3):273-4. PubMed ID: 10980543
    [Abstract] [Full Text] [Related]

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