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Journal Abstract Search

105 related items for PubMed ID: 15808832

  • 1. Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome.
    Hong K, Guerchicoff A, Pollevick GD, Oliva A, Dumaine R, de Zutter M, Burashnikov E, Wu YS, Brugada J, Brugada P, Brugada R.
    J Mol Cell Cardiol; 2005 Apr; 38(4):555-60. PubMed ID: 15808832
    [Abstract] [Full Text] [Related]

  • 2. Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
    Rossenbacker T, Schollen E, Kuipéri C, de Ravel TJ, Devriendt K, Matthijs G, Collen D, Heidbüchel H, Carmeliet P.
    J Med Genet; 2005 May; 42(5):e29. PubMed ID: 15863661
    [Abstract] [Full Text] [Related]

  • 3. Novel mutations in domain I of SCN5A cause Brugada syndrome.
    Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA.
    Mol Genet Metab; 2002 Apr; 75(4):317-24. PubMed ID: 12051963
    [Abstract] [Full Text] [Related]

  • 4. [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
    Liang P, Liu WL, Hu DY, Li CL, Tao WH, Li L.
    Zhonghua Xin Xue Guan Bing Za Zhi; 2006 Jul; 34(7):616-9. PubMed ID: 17081365
    [Abstract] [Full Text] [Related]

  • 5. Mutational screening of SCN5A linked disorders in Polish patients and their family members.
    Moric-Janiszewska E, Herbert E, Cholewa K, Filipecki A, Trusz-Gluza M, Wilczok T.
    J Appl Genet; 2004 Jul; 45(3):383-90. PubMed ID: 15306732
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation in the SCN5A gene is associated with Brugada syndrome.
    Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.
    Life Sci; 2007 Jan 30; 80(8):716-24. PubMed ID: 17141278
    [Abstract] [Full Text] [Related]

  • 7. Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
    Amin AS, Verkerk AO, Bhuiyan ZA, Wilde AA, Tan HL.
    Acta Physiol Scand; 2005 Dec 30; 185(4):291-301. PubMed ID: 16266370
    [Abstract] [Full Text] [Related]

  • 8. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
    Schulze-Bahr E, Eckardt L, Breithardt G, Seidl K, Wichter T, Wolpert C, Borggrefe M, Haverkamp W.
    Hum Mutat; 2003 Jun 30; 21(6):651-2. PubMed ID: 14961552
    [Abstract] [Full Text] [Related]

  • 9. Non-SCN5A related Brugada syndromes: verification of normal splicing and trafficking of SCN5A without exonic mutations.
    Nakano Y, Tashiro S, Kinoshita E, Kinoshita-Kikuta E, Takenaka S, Miyoshi M, Ogi H, Sakoda E, Oda N, Suenari K, Tonouchi Y, Okimoto T, Hirai Y, Miura F, Yamaoka K, Koike T, Chayama K.
    Ann Hum Genet; 2007 Jan 30; 71(Pt 1):8-17. PubMed ID: 17227473
    [Abstract] [Full Text] [Related]

  • 10. Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:
    Hong K, Berruezo-Sanchez A, Poungvarin N, Oliva A, Vatta M, Brugada J, Brugada P, Towbin JA, Dumaine R, Piñero-Galvez C, Antzelevitch C, Brugada R.
    J Cardiovasc Electrophysiol; 2004 Jan 30; 15(1):64-9. PubMed ID: 15028074
    [Abstract] [Full Text] [Related]

  • 11. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
    Ma HW, Jiang J, Lu JF, Guo R, Niu GH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun 30; 22(3):251-3. PubMed ID: 15952107
    [Abstract] [Full Text] [Related]

  • 12. A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
    Keller DI, Huang H, Zhao J, Frank R, Suarez V, Delacrétaz E, Brink M, Osswald S, Schwick N, Chahine M.
    Cardiovasc Res; 2006 Jun 01; 70(3):521-9. PubMed ID: 16616735
    [Abstract] [Full Text] [Related]

  • 13. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 14. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel.
    Wang Q, Li Z, Shen J, Keating MT.
    Genomics; 1996 May 15; 34(1):9-16. PubMed ID: 8661019
    [Abstract] [Full Text] [Related]

  • 15. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Aug 15; 47(8):3565-72. PubMed ID: 16877430
    [Abstract] [Full Text] [Related]

  • 16. [Detection of gene mutations of SCN5A in 7 patients with Brugada syndrome].
    Yuan BB, Shan QJ, Yang B, Chen ML, Zou JG, Chen C, Xu DJ, Cao KJ.
    Zhonghua Xin Xue Guan Bing Za Zhi; 2008 May 15; 36(5):404-7. PubMed ID: 19100032
    [Abstract] [Full Text] [Related]

  • 17. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L.
    Hum Mutat; 2007 Jun 15; 28(6):599-612. PubMed ID: 17311297
    [Abstract] [Full Text] [Related]

  • 18. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
    Dehainault C, Michaux D, Pagès-Berhouet S, Caux-Moncoutier V, Doz F, Desjardins L, Couturier J, Parent P, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C.
    Eur J Hum Genet; 2007 Apr 15; 15(4):473-7. PubMed ID: 17299438
    [Abstract] [Full Text] [Related]

  • 19. Clinical aspects and physiopathology of Brugada syndrome: review of current concepts.
    Herbert E, Chahine M.
    Can J Physiol Pharmacol; 2006 Apr 15; 84(8-9):795-802. PubMed ID: 17111025
    [Abstract] [Full Text] [Related]

  • 20. Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.
    Itoh H, Shimizu M, Mabuchi H, Imoto K.
    J Cardiovasc Electrophysiol; 2005 Apr 15; 16(4):378-83. PubMed ID: 15828879
    [Abstract] [Full Text] [Related]

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