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79 related items for PubMed ID: 10627139

  • 1. Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
    Benhorin J, Goldmit M, MacCluer JW, Blangero J, Goffen R, Leibovitch A, Rahat A, Wang Q, Medina A, Towbin J, Kerem B.
    Hum Mutat; 1998; 12(1):72. PubMed ID: 10627139
    [Abstract] [Full Text] [Related]

  • 2. [Long QT syndrome].
    Nakajima T, Kaneko Y, Taniguchi Y, Nagai R.
    Nihon Rinsho; 1996 Mar; 54(3):776-81. PubMed ID: 8904236
    [Abstract] [Full Text] [Related]

  • 3. A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.
    Yamagishi H, Furutani M, Kamisago M, Morikawa Y, Kojima Y, Hino Y, Furutani Y, Kimura M, Imamura S, Takao A, Momma K, Matsuoka R.
    Hum Mutat; 1998 Mar; 11(6):481. PubMed ID: 10200053
    [Abstract] [Full Text] [Related]

  • 4. 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 Mar; 45(3):383-90. PubMed ID: 15306732
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. A mutation in HERG associated with notched T waves in long QT syndrome.
    Dausse E, Berthet M, Denjoy I, André-Fouet X, Cruaud C, Bennaceur M, Fauré S, Coumel P, Schwartz K, Guicheney P.
    J Mol Cell Cardiol; 1996 Aug 15; 28(8):1609-15. PubMed ID: 8877771
    [Abstract] [Full Text] [Related]

  • 7. Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome.
    Smits JP, Veldkamp MW, Bezzina CR, Bhuiyan ZA, Wedekind H, Schulze-Bahr E, Wilde AA.
    Cardiovasc Res; 2005 Aug 15; 67(3):459-66. PubMed ID: 16039271
    [Abstract] [Full Text] [Related]

  • 8. The LQT syndromes--current status of molecular mechanisms.
    Schulze-Bahr E, Wedekind H, Haverkamp W, Borggrefe M, Assmann G, Breithardt G, Funke H.
    Z Kardiol; 1999 Apr 15; 88(4):245-54. PubMed ID: 10408028
    [Abstract] [Full Text] [Related]

  • 9. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
    Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT.
    Cell; 1995 Mar 10; 80(5):805-11. PubMed ID: 7889574
    [Abstract] [Full Text] [Related]

  • 10. Molecular genetics of long QT syndrome.
    Keating MT.
    Soc Gen Physiol Ser; 1995 Mar 10; 50():53-60. PubMed ID: 7676324
    [Abstract] [Full Text] [Related]

  • 11. [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]

  • 12. [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 21; 95(5):440-6. PubMed ID: 12085742
    [Abstract] [Full Text] [Related]

  • 13. [A family with facioscapulohumeral muscular dystrophy and hereditary long QT syndrome].
    Kimura T, Moriwaki T, Sawada J, Naka T, Hazama T, Nakata T.
    Rinsho Shinkeigaku; 1997 Aug 21; 37(8):690-2. PubMed ID: 9404145
    [Abstract] [Full Text] [Related]

  • 14. Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
    Huang H, Millat G, Rodriguez-Lafrasse C, Rousson R, Kugener B, Chevalier P, Chahine M.
    FEBS Lett; 2009 Mar 04; 583(5):890-6. PubMed ID: 19302788
    [Abstract] [Full Text] [Related]

  • 15. Genetics, molecular mechanisms and management of long QT syndrome.
    Wang Q, Chen Q, Towbin JA.
    Ann Med; 1998 Feb 04; 30(1):58-65. PubMed ID: 9556090
    [Abstract] [Full Text] [Related]

  • 16. SCN5A channelopathies--an update on mutations and mechanisms.
    Zimmer T, Surber R.
    Prog Biophys Mol Biol; 2008 Feb 04; 98(2-3):120-36. PubMed ID: 19027780
    [Abstract] [Full Text] [Related]

  • 17. A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
    Wehrens XH, Rossenbacker T, Jongbloed RJ, Gewillig M, Heidbüchel H, Doevendans PA, Vos MA, Wellens HJ, Kass RS.
    Hum Mutat; 2003 May 04; 21(5):552. PubMed ID: 12673799
    [Abstract] [Full Text] [Related]

  • 18. Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
    Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzàlez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
    Clin Genet; 2006 Sep 04; 70(3):214-27. PubMed ID: 16922724
    [Abstract] [Full Text] [Related]

  • 19. Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
    Wattanasirichaigoon D, Vesely MR, Duggal P, Levine JC, Blume ED, Wolff GS, Edwards SB, Beggs AH.
    Am J Med Genet; 1999 Oct 29; 86(5):470-6. PubMed ID: 10508990
    [Abstract] [Full Text] [Related]

  • 20. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
    Remme CA, Wilde AA, Bezzina CR.
    Trends Cardiovasc Med; 2008 Apr 29; 18(3):78-87. PubMed ID: 18436145
    [Abstract] [Full Text] [Related]

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