Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: Channelopathies and SCN5A[original query] |
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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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Genetic mutations in young patients admitted to an emergency department for syncope during sport practice. Medicina clinica 2018 4 151 (7): 270-274. Gómez Alcaraz Jorge, Bustamante José, Corral Ervigio, Casado Florez Maria Isabel, Vivas David, Cañadas-Godoy Victoria, González Del Castillo Juan, González Armengol Juan Jorge, López-Farré Antonio, Martín Sánchez Francisco Javi |
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. Hong Kong medical journal = Xianggang yi xue za zhi 2018 3 24 (4): 340-349. Mak C M, Chen S Pl, Mok N S, Siu W K, Lee H Hc, Ching C K, Tsui P T, Fong N C, Yuen Y P, Poon W T, Law C Y, Chong Y K, Chan Y W, Yung T C, Fan K Yy, Lam C |
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia. Indian pacing and electrophysiology journal 2018 2 18 (3): 91-94. Rangaraju Advithi, Krishnan Shuba, Aparna G, Sankaran Satish, Mannan Ashraf U, Rao B Hygr |
Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Frontiers in cell and developmental biology 2019 11 7 261. El-Battrawy Ibrahim, Müller Jonas, Zhao Zhihan, Cyganek Lukas, Zhong Rujia, Zhang Feng, Kleinsorge Mandy, Lan Huan, Li Xin, Xu Qiang, Huang Mengying, Liao Zhenxing, Moscu-Gregor Alexander, Albers Sebastian, Dinkel Hendrik, Lang Siegfried, Diecke Sebastian, Zimmermann Wolfram-Hubertus, Utikal Jochen, Wieland Thomas, Borggrefe Martin, Zhou Xiaobo, Akin Ibrah |
A 59-Year-Old Woman with Familial Brugada Syndrome and the c.664C>T Variant of the Sodium Voltage-Gated Channel Alpha Subunit 5 (SCN5A) Gene, Accompanied by Congenital Absence of the Right Coronary Artery, Patent Foramen Ovale, and Ischemic Stroke. The American journal of case reports 2021 8 22 e931535. Katsaras Dimitrios, Sanjeev Kumar Bangalore Thimmappa, Patel Billal, Chalil Shajil, Abozguia Khal |
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel. Orphanet journal of rare diseases 2022 10 17 (1): 394. Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu |
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