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There are 14220 results for: content related to: Beckwith–Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

  1. 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

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12235

  2. 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

    Article first published online : 10 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01914.x

  3. De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 492–495, J.Y. Al-Aama, S. Al-Ghamdi, A.Y. Bdier, A.A.M. Wilde and Zahurul A. Bhuiyan

    Article first published online : 14 NOV 2013, DOI: 10.1111/cge.12300

  4. 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

    Article first published online : 27 DEC 2013, DOI: 10.1111/cge.12330

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    Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 326–334, KJ Jacob, WP Robinson and L Lefebvre

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12143

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    Young volcanism and related hydrothermal activity at 5°S on the slow-spreading southern Mid-Atlantic Ridge

    Geochemistry, Geophysics, Geosystems

    Volume 8, Issue 11, November 2007, K. M. Haase, S. Petersen, A. Koschinsky, R. Seifert, C. W. Devey, R. Keir, K. S. Lackschewitz, B. Melchert, M. Perner, O. Schmale, J. Süling, N. Dubilier, F. Zielinski, S. Fretzdorff, D. Garbe-Schönberg, U. Westernströer, C. R. German, T. M. Shank, D. Yoerger, O. Giere, J. Kuever, H. Marbler, J. Mawick, C. Mertens, U. Stöber, M. Walter, C. Ostertag-Henning, H. Paulick, M. Peters, H. Strauss, S. Sander, J. Stecher, M. Warmuth and S. Weber

    Article first published online : 13 NOV 2007, DOI: 10.1029/2006GC001509

  7. Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 365–370, S. Fokstuen, P. Makrythanasis, S. Nikolaev, F. Santoni, D. Robyr, A. Munoz, J. Bevillard, L. Farinelli, C. Iseli, S.E. Antonarakis and J.-L. Blouin

    Article first published online : 13 MAY 2013, DOI: 10.1111/cge.12168

  8. A Dual Mechanism for IKs Current Reduction by the Pathogenic Mutation KCNQ1-S277L

    Pacing and Clinical Electrophysiology

    Volume 34, Issue 12, December 2011, Pages: 1652–1664, JERRI CHEN, MICHAEL WEBER, SUNG YON UM, CHRISTINE A. WALSH, YINGYING TANG and THOMAS V. MCDONALD

    Article first published online : 2 SEP 2011, DOI: 10.1111/j.1540-8159.2011.03190.x

  9. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

  10. A Double-Point Mutation in the Selectivity Filter Site of the KCNQ1 Potassium Channel Results in a Severe Phenotype, LQT1, of Long QT Syndrome

    Journal of Cardiovascular Electrophysiology

    Volume 19, Issue 5, May 2008, Pages: 541–549, TARUNA IKRAR, HARUO HANAWA, HIROSHI WATANABE, SHINSUKE OKADA, YOSHIYASU AIZAWA, MAHMOUD M. RAMADAN, SATORU KOMURA, FUMIO YAMASHITA, MASAOMI CHINUSHI and YOSHIFUSA AIZAWA

    Article first published online : 8 JUL 2008, DOI: 10.1111/j.1540-8167.2007.01076.x

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    Twin studies of pain

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 331–340, CS Nielsen, GP Knudsen and ÓA Steingrímsdóttir

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01938.x

  12. Instability of KCNE1-D85N that Causes Long QT Syndrome: Stabilization by Verapamil

    Pacing and Clinical Electrophysiology

    Volume 37, Issue 7, July 2014, Pages: 853–863, SHINJI SAKATA, YASUTAKA KURATA, PEILI LI, TOMOMI NOTSU, KUMI MORIKAWA, JUNICHIRO MIAKE, KATSUMI HIGAKI, YASUTAKA YAMAMOTO, AKIO YOSHIDA, YASUAKI SHIRAYOSHI, KAZUHIRO YAMAMOTO, MINORU HORIE, HARUAKI NINOMIYA, SUSUMU KANZAKI and ICHIRO HISATOME

    Article first published online : 5 FEB 2014, DOI: 10.1111/pace.12360

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    Oestrogen promotes KCNQ1 potassium channel endocytosis and postendocytic trafficking in colonic epithelium

    The Journal of Physiology

    Volume 591, Issue 11, June 2013, Pages: 2813–2831, Raphael Rapetti-Mauss, Fiona O'Mahony, Francisco V. Sepulveda, Valerie Urbach and Brian J. Harvey

    Article first published online : 22 APR 2013, DOI: 10.1113/jphysiol.2013.251678

  14. 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

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33274

  15. Genotype phenotype correlations for hearing impairment: Approaches to management

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 514–523, L. H. Hoefsloot, I. Feenstra, H. P. M. Kunst and H. Kremer

    Article first published online : 18 FEB 2014, DOI: 10.1111/cge.12339

  16. The Effects of Industrial Clusters on the Poverty Rate

    Economic Geography

    Volume 90, Issue 2, April 2014, Pages: 129–154, Christopher S. Fowler and Rachel Garshick Kleit

    Article first published online : 8 NOV 2013, DOI: 10.1111/ecge.12038

  17. Genetic parameters for natural antibody isotype titers in milk of Dutch Holstein-Friesians

    Animal Genetics

    Volume 44, Issue 5, August 2013, Pages: 485–492, S. Wijga, H. Bovenhuis, J. W. M. Bastiaansen, J. A. M. van Arendonk, T. C. W. Ploegaert, E. Tijhaar and J. J. van der Poel

    Article first published online : 17 MAR 2013, DOI: 10.1111/age.12038

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    Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels

    The Journal of Physiology

    Volume 563, Issue 2, March 2005, Pages: 359–368, Guiscard Seebohm, Peter Westenskow, Florian Lang and Michael C. Sanguinetti

    Article first published online : 21 FEB 2005, DOI: 10.1113/jphysiol.2004.080887

  19. Application of ASTER and Landsat TM Data for Geological Mapping of Esfandagheh Ophiolite Complex, Southern Iran

    Resource Geology

    Volume 64, Issue 3, July 2014, Pages: 233–246, Mohsen Pournamdari, Mazlan Hashim and Amin Beiranvand Pour

    Article first published online : 21 JUN 2014, DOI: 10.1111/rge.12038

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    Sexual dimorphism and oestrogen regulation of KCNE3 expression modulates the functional properties of KCNQ1 K+ channels

    The Journal of Physiology

    Volume 589, Issue 21, November 2011, Pages: 5091–5107, Rodrigo Alzamora, Fiona O’Mahony, Viviana Bustos, Raphael Rapetti-Mauss, Valérie Urbach, L. Pablo Cid, Francisco V. Sepúlveda and Brian J. Harvey

    Article first published online : 28 OCT 2011, DOI: 10.1113/jphysiol.2011.215772