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Journal Abstract Search

180 related items for PubMed ID: 8661019

  • 21. [Homozygotous mutation of the SCN5A gene responsible for congenital long QT syndrome with 2/1 atrioventricular block].
    Lupoglazoff JM, Denjoy I, Cheav T, Berthet M, Extramiana F, Cauchemez B, Villain E, Leenhardt A, Guicheney P.
    Arch Mal Coeur Vaiss; 2002 May; 95(5):440-6. PubMed ID: 12085742
    [Abstract] [Full Text] [Related]

  • 22. Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
    Maekawa K, Saito Y, Ozawa S, Adachi-Akahane S, Kawamoto M, Komamura K, Shimizu W, Ueno K, Kamakura S, Kamatani N, Kitakaze M, Sawada J.
    Ann Hum Genet; 2005 Jul; 69(Pt 4):413-28. PubMed ID: 15996170
    [Abstract] [Full Text] [Related]

  • 23. Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements.
    Aho S, Rothenberger K, Tan EM, Ryoo YW, Cho BH, McLean WH, Uitto J.
    Genomics; 1999 Mar 01; 56(2):160-8. PubMed ID: 10051401
    [Abstract] [Full Text] [Related]

  • 24. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.
    Fisher SE, Ciccodicola A, Tanaka K, Curci A, Desicato S, D'urso M, Craig IW.
    Genomics; 1997 Oct 15; 45(2):340-7. PubMed ID: 9344658
    [Abstract] [Full Text] [Related]

  • 25. Isolation and molecular characterization of the porcine stearoyl-CoA desaturase gene.
    Ren J, Knorr C, Huang L, Brenig B.
    Gene; 2004 Sep 29; 340(1):19-30. PubMed ID: 15556291
    [Abstract] [Full Text] [Related]

  • 26. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
    Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT.
    Nat Genet; 1996 Jan 29; 12(1):17-23. PubMed ID: 8528244
    [Abstract] [Full Text] [Related]

  • 27. High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.
    Hofman-Bang J, Behr ER, Hedley P, Tfelt-Hansen J, Kanters JK, Haunsøe S, McKenna WJ, Christiansen M.
    Clin Genet; 2006 Jun 29; 69(6):504-11. PubMed ID: 16712702
    [Abstract] [Full Text] [Related]

  • 28. The gene for human protein Z is localized to chromosome 13 at band q34 and is coded by eight regular exons and one alternative exon.
    Fujimaki K, Yamazaki T, Taniwaki M, Ichinose A.
    Biochemistry; 1998 May 12; 37(19):6838-46. PubMed ID: 9578570
    [Abstract] [Full Text] [Related]

  • 29. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun 12; 24(2):199-215. PubMed ID: 9642100
    [Abstract] [Full Text] [Related]

  • 30. Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9.
    Xu Z, Gruenert DC.
    Biochem Biophys Res Commun; 1996 Feb 06; 219(1):140-5. PubMed ID: 8619797
    [Abstract] [Full Text] [Related]

  • 31. Differential evolution of voltage-gated sodium channels in tetrapods and teleost fishes.
    Widmark J, Sundström G, Ocampo Daza D, Larhammar D.
    Mol Biol Evol; 2011 Jan 06; 28(1):859-71. PubMed ID: 20924084
    [Abstract] [Full Text] [Related]

  • 32. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.
    Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, Meisler MH.
    Genomics; 1998 Dec 01; 54(2):287-96. PubMed ID: 9828131
    [Abstract] [Full Text] [Related]

  • 33. [Molecular genetics of the long QT syndrome: clinical aspects].
    Sepp R, Csanády M.
    Orv Hetil; 1999 Nov 21; 140(47):2633-8. PubMed ID: 10613047
    [Abstract] [Full Text] [Related]

  • 34. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
    Remme CA, Wilde AA, Bezzina CR.
    Trends Cardiovasc Med; 2008 Apr 21; 18(3):78-87. PubMed ID: 18436145
    [Abstract] [Full Text] [Related]

  • 35. 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 21; 75(4):317-24. PubMed ID: 12051963
    [Abstract] [Full Text] [Related]

  • 36. Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4).
    Steinlein O, Weiland S, Stoodt J, Propping P.
    Genomics; 1996 Mar 01; 32(2):289-94. PubMed ID: 8833159
    [Abstract] [Full Text] [Related]

  • 37. An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene.
    Matsusue A, Kashiwagi M, Hara K, Waters B, Sugimura T, Kubo S.
    Leg Med (Tokyo); 2012 Nov 01; 14(6):317-9. PubMed ID: 22682427
    [Abstract] [Full Text] [Related]

  • 38. 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 01; 71(Pt 1):8-17. PubMed ID: 17227473
    [Abstract] [Full Text] [Related]

  • 39. New SCN5A mutation in a SUDEP victim with idiopathic epilepsy.
    Aurlien D, Leren TP, Taubøll E, Gjerstad L.
    Seizure; 2009 Mar 01; 18(2):158-60. PubMed ID: 18752973
    [Abstract] [Full Text] [Related]

  • 40. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
    Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, Judson R, Curran ME.
    Heart Rhythm; 2004 Nov 01; 1(5):600-7. PubMed ID: 15851227
    [Abstract] [Full Text] [Related]

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