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There are 12752 results for: content related to: De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome

  1. Genotype–phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 74–79, J.Y. Al-Aama, S. Al-Ghamdi, A.Y. Bdier, A. AlQarawi, O.A. Jiman, N. Al-Aama, J. Al-Aata, A.A.M. Wilde and Z.A. Bhuiyan

    Version of Record online : 27 DEC 2013, DOI: 10.1111/cge.12330

  2. LQTS in Northern BC: homozygosity for KCNQ1V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 85–90, H.A. Jackson, S. McIntosh, B. Whittome, S. Asuri, B. Casey, C. Kerr, A. Tang and L.T. Arbour

    Version of Record online : 30 JUL 2013, DOI: 10.1111/cge.12235

  3. Jervell and Lange-Nielsen syndrome: A Norwegian perspective

    American Journal of Medical Genetics

    Volume 89, Issue 3, 24 September 1999, Pages: 137–146, Lisbeth Tranebjærg, Jørn Bathen, Jess Tyson and Maria Bitner-Glindzicz

    Version of Record online : 6 MAR 2000, DOI: 10.1002/(SICI)1096-8628(19990924)89:3<137::AID-AJMG4>3.0.CO;2-C

  4. You have free access to this content
    The genetic basis of long QT and short QT syndromes: A mutation update

    Human Mutation

    Volume 30, Issue 11, November 2009, Pages: 1486–1511, Paula L. Hedley, Poul Jørgensen, Sarah Schlamowitz, Romilda Wangari, Johanna Moolman-Smook, Paul A. Brink, Jørgen K. Kanters, Valerie A. Corfield and Michael Christiansen

    Version of Record online : 14 AUG 2009, DOI: 10.1002/humu.21106

  5. Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

    Human Mutation

    Volume 13, Issue 4, 1999, Pages: 301–310, R.J.E. Jongbloed, A.A.M. Wilde, J.L.M.C. Geelen, P. Doevendans, C. Schaap, I. Van Langen, J.P. van Tintelen, J.M. Cobben, G.C.M. Beaufort-Krol, J.P.M. Geraedts and H.J.M. Smeets

    Version of Record online : 31 MAR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V

  6. Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 613–621, Kim M. Summers, Nilesh J. Bokil, Foong Teng Lu, Jiun Tsuen Low, John M. Baisden, David Duffy and Dorothy J. Radford

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33274

  7. Beckwith–Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 78–81, S Kaltenbach, Y Capri, S Rossignol, I Denjoy, S Soudée, A Aboura, C Baumann and A Verloes

    Version of Record online : 14 NOV 2012, DOI: 10.1111/cge.12038

  8. You have full text access to this OnlineOpen article
    Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome

    EMBO Molecular Medicine

    Volume 7, Issue 8, August 2015, Pages: 1077–1086, Qing Chang, Jianjun Wang, Qi Li, Yeunjung Kim, Binfei Zhou, Yunfeng Wang, Huawei Li and Xi Lin

    Version of Record online : 17 JUN 2015, DOI: 10.15252/emmm.201404929

  9. Novel Compound Heterozygous Mutations in the KCNQ1 Gene Associated with Autosomal Recessive Long QT Syndrome (Jervell and Lange-Nielsen syndrome)

    Annals of Noninvasive Electrocardiology

    Volume 8, Issue 3, July 2003, Pages: 246–250, Li Ning, Arthur J. Moss, Wojciech Zareba, Jennifer Robinson, Spencer Rosero, Dan Ryan and Ming Qi

    Version of Record online : 8 JUL 2003, DOI: 10.1046/j.1542-474X.2003.08313.x

  10. An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations

    American Journal of Medical Genetics Part A

    Volume 173, Issue 3, March 2017, Pages: 749–752, Eliecer Coto, Francisco J. García-Fernández, David Calvo, Ricardo Salgado-Aranda, Javier Martín-González, Belén Alonso, Sara Iglesias and Juan Gómez

    Version of Record online : 21 NOV 2016, DOI: 10.1002/ajmg.a.38062

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    Novel KCNQ1 mutations associated with recessive and dominant congenital long QT Syndromes: Evidence for variable hearing phenotype associated with R518X

    Human Mutation

    Volume 15, Issue 4, April 2000, Pages: 387–388, Jian Wei, Frank A. Fish, Robert J. Myerburg, Dan M. Roden and Alfred L. George Jr.

    Version of Record online : 22 MAR 2000, DOI: 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T

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    KCNE4 is an inhibitory subunit to the KCNQ1 channel

    The Journal of Physiology

    Volume 542, Issue 1, July 2002, Pages: 119–130, Morten Grunnet, Thomas Jespersen, Hanne Borger Rasmussen, Trine Ljungstrøm, Nanna K. Jorgensen, Søren-Peter Olesen and Dan A. Klaerke

    Version of Record online : 22 JUL 2004, DOI: 10.1113/jphysiol.2002.017301

  13. Clinical Course and Risk Stratification of Patients Affected with the Jervell and Lange-Nielsen Syndrome

    Journal of Cardiovascular Electrophysiology

    Volume 17, Issue 11, November 2006, Pages: 1161–1168, ILAN GOLDENBERG, ARTHUR J. MOSS, WOJCIECH ZAREBA, SCOTT MCNITT, JENNIFER L. ROBINSON, MING QI, JEFFREY A. TOWBIN, MICHAEL J. ACKERMAN and LAURA MURPHY

    Version of Record online : 14 AUG 2006, DOI: 10.1111/j.1540-8167.2006.00587.x

  14. Arrhythmias Due to Monogenic Disorders

    Evidence-Based Cardiology, Third Edition

    Dawood Darbar, Prince Kannankeril, Dan M L Roden, Pages: 706–720, 2010

    Published Online : 21 MAY 2010, DOI: 10.1002/9781444309768.ch44

  15. Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 370–374, ZMA Shinwari, A Al-Hazzani, N Dzimiri, S Tulbah, Y Mallawi, M Al-Fayyadh and ZN Al-Hassnan

    Version of Record online : 10 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01914.x

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    Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

    The Journal of Physiology

    Volume 576, Issue 1, October 2006, Pages: 11–21, Philine Wangemann

    Version of Record online : 22 SEP 2006, DOI: 10.1113/jphysiol.2006.112888

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    A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

    The EMBO Journal

    Volume 19, Issue 3, February 1, 2000, Pages: 332–340, Nicole Schmitt, Martin Schwarz, Asher Peretz, Ilane Abitbol, Bernard Attali and Olaf Pongs

    Version of Record online : 1 FEB 2000, DOI: 10.1093/emboj/19.3.332

  18. You have free access to this content
    Application of physiological genomics to the study of hearing disorders

    The Journal of Physiology

    Volume 543, Issue 1, August 2002, Pages: 3–12, Stefan Heller

    Version of Record online : 22 JUL 2004, DOI: 10.1113/jphysiol.2002.018911

  19. DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

    Human Mutation

    Volume 20, Issue 5, November 2002, Pages: 382–391, Roselie Jongbloed, Carlo Marcelis, Crool Velter, Pieter Doevendans, Joep Geraedts and Hubert Smeets

    Version of Record online : 25 OCT 2002, DOI: 10.1002/humu.10131

  20. You have full text access to this OnlineOpen article
    Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

    Developmental Neurobiology

    Volume 75, Issue 11, November 2015, Pages: 1219–1240, Heiko Locher, John C.M.J. de Groot, Liesbeth van Iperen, Margriet A. Huisman, Johan H.M. Frijns and Susana M. Chuva de Sousa Lopes

    Version of Record online : 28 FEB 2015, DOI: 10.1002/dneu.22279