HuGE Literature Finder
Records 1-11
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Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
International journal of legal medicine 2016 Feb . Neubauer Jacqueline, Haas Cordula, Bartsch Christine, Domingo-Medeiros Argelia, Berger Wolfga |
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Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.
European journal of human genetics : EJHG 2015 Sep . Hertz Christin Loeth, Christiansen Sofie Lindgren, Larsen Maiken Kudahl, Dahl Morten, Ferrero-Miliani Laura, Weeke Peter Ejvind, Pedersen Oluf, Hansen Torben, Grarup Niels, Ottesen Gyda Lolk, Frank-Hansen Rune, Banner Jytte, Morling Nie |
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SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
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Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jun 7 (6): 771-8. Tan Bi-Hua, Pundi Kavitha N, Van Norstrand David W, Valdivia Carmen R, Tester David J, Medeiros-Domingo Argelia, Makielski Jonathan C, Ackerman Michael |
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Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
Circulation. Arrhythmia and electrophysiology 2009 Dec 2 (6): 667-76. Cheng Jianding, Van Norstrand David W, Medeiros-Domingo Argelia, Valdivia Carmen, Tan Bi-hua, Ye Bin, Kroboth Stacie, Vatta Matteo, Tester David J, January Craig T, Makielski Jonathan C, Ackerman Michael |
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Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Heart rhythm : the official journal of the Heart Rhythm Society 2009 Mar 6 (3): 341-8. Meregalli Paola G, Tan Hanno L, Probst Vincent, Koopmann Tamara T, Tanck Michael W, Bhuiyan Zahurul A, Sacher Frederic, Kyndt Florence, Schott Jean-Jacques, Albuisson J, Mabo Philippe, Bezzina Connie R, Le Marec Herve, Wilde Arthur A |
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Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome.
Frontiers of medicine in China 2007 Jul 1 (3): 312-5. Du Rong, Tian Li, Yuan Guohui, Li Jin, Ren Faxin, Gui Le, Li Wei, Zhang Shouyan, Kang Cailian, Yang Jung |
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Gastrointestinal symptoms in families of patients with an SCN5A-encoded cardiac channelopathy: evidence of an intestinal channelopathy.
The American journal of gastroenterology 2006 Jun 101 (6): 1299-304. Locke G Richard, Ackerman Michael J, Zinsmeister Alan R, Thapa Prabin, Farrugia Gianri |
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The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Genetics in medicine : official journal of the American College of Medical Genetics 2006 Mar 8 (3): 143-55. Modell Stephen M, Lehmann Michael |
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Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
Journal of medical genetics 2005 May 42 (5): e29. Rossenbacker T, Schollen E, Kuipéri C, de Ravel T J L, Devriendt K, Matthijs G, Collen D, Heidbüchel H, Carmeliet |
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The electrocardiographic abnormalities in highly trained athletes compared to the genetic study related to causes of unexpected sudden cardiac death.
Journal of medicine and life 0 2 (4): 361-72. Macarie C, Stoian Ioana, Dermengiu D, Barbarii Ligia, Piser Ileana Tepes, Chioncel O, Carp A, Stoian |
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- Page last updated:Sep 23, 2021
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