Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Syncope and KCNQ1[original query] |
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| Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. Journal of the American College of Cardiology 2003 Jul 42 (1): 103-9. Zareba Wojciech, Moss Arthur J, Locati Emanuela H, Lehmann Michael H, Peterson Derick R, Hall W Jackson, Schwartz Peter J, Vincent G Michael, Priori Silvia G, Benhorin Jesaia, Towbin Jeffrey A, Robinson Jennifer L, Andrews Mark L, Napolitano Carlo, Timothy Katherine, Zhang Li, Medina Aharon, |
| Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. Journal of cardiovascular electrophysiology 2003 Nov 14 (11): 1149-53. Zareba Wojciech, Moss Arthur J, Sheu Gloria, Kaufman Elizabeth S, Priori Silvia, Vincent G Michael, Towbin Jeffrey A, Benhorin Jesaia, Schwartz Peter J, Napolitano Carlo, Hall W Jackson, Keating Mark T, Qi Ming, Robinson Jennifer L, Andrews Mark L, |
| Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. Journal of the American College of Cardiology 2004 Mar 43 (5): 826-30. Lupoglazoff JM, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, Berthet M, Benammar N, Hainque B, Guicheney P |
| Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome. Pediatric cardiology 0 25 (5): 459-65. Chatrath R, Bell C M, Ackerman M |
| 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 |
| Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. Journal of cardiovascular electrophysiology 2009 Aug 20 (8): 859-65. Jons Christian, Moss Arthur J, Lopes Coeli M, McNitt Scott, Zareba Wojciech, Goldenberg Ilan, Qi Ming, Wilde Arthur A M, Shimizu Wataru, Kanters Jorgen K, Towbin Jeffrey A, Ackerman Michael J, Robinson Jennifer |
| Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates. The Canadian journal of cardiology 2010 Apr 26 (4): 208-12. Subbiah Rajesh N, Gollob Michael H, Gula Lorne J, Davies Robert W, Leong-Sit Peter, Skanes Allan C, Yee Raymond, Klein George J, Krahn Andrew |
| Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. The American journal of cardiology 2010 Oct 106 (8): 1124-8. Tester David J, Benton Amber J, Train Laura, Deal Barbara, Baudhuin Linnea M, Ackerman Michael |
| Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. Science translational medicine 2011 Mar 3 (76): 76ra28. Jons Christian, O-Uchi Jin, Moss Arthur J, Reumann Matthias, Rice John J, Goldenberg Ilan, Zareba Wojciech, Wilde Arthur A M, Shimizu Wataru, Kanters Jorgen K, McNitt Scott, Hofman Nynke, Robinson Jennifer L, Lopes Coeli M |
| Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. Biochimica et biophysica acta 2011 1 1812 (4): 488-94. Aidery Parwez, Kisselbach Jana, Schweizer Patrick A, Becker Rüdiger, Katus Hugo A, Thomas Die |
| Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC cardiovascular disorders 2012 12 (1): 95. Stattin Eva-Lena, Boström Ida Maria, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg An |
| Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic testing and molecular biomarkers 2013 Jul 17 (7): 553-61. Lieve Krystien V, Williams Leah, Daly Amy, Richard Gabriele, Bale Sherri, Macaya Daniela, Chung Wendy |
| Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients. International heart journal 2015 56 (4): 450-3. Chang Ya-Sian, Yang Yi-Wen, Lin Yen-Nien, Lin Kuo-Hung, Chang Kuan-Cheng, Chang Jan-Gow |
| High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Scientific reports 2015 5 10009. Steffensen Annette Buur, Refaat Marwan M, David Jens-Peter, Mujezinovic Amer, Calloe Kirstine, Wojciak Julianne, Nussbaum Robert L, Scheinman Melvin M, Schmitt Nico |
| Influence of Pregnancy in Patients With Congenital Long QT Syndrome. Cardiology in review 2016 Mar . Garg Lohit, Garg Jalaj, Krishnamoorthy Parasuram, Ahnert Amy, Shah Neeraj, Dusaj Raman S, Bozorgnia Bab |
| Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families. Journal of arrhythmia 2018 6 34 (3): 286-290. Amirian Azam, Zafari Zahra, Dalili Mohammad, Saber Siamak, Karimipoor Morteza, Dabbagh Bagheri Samira, Fazelifar Amir Farjam, Zeinali Siro |
| 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 |
| A challenge for mutation specific risk stratification in long QT syndrome type 1. Journal of cardiology 2018 2 72 (1): 56-65. Yagi Noriaki, Itoh Hideki, Hisamatsu Takashi, Tomita Yukinori, Kimura Hiromi, Fujii Yusuke, Makiyama Takeru, Horie Minoru, Ohno Sei |
| Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families. Iranian biomedical journal 2019 2 23 (3): 228-34. Amirian Azam, Zafari Zahra, Karimipoor Morteza, Kordafshari Alireza, Dalili Mohammad, Saber Siamak, Farjam Fazelifar Amir, Zeinali Siro |
| An NGS-based genotyping in LQTS; minor genes are no longer minor. Journal of human genetics 2020 Jul . Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Mino |
| A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome. Heart rhythm 2021 11 19 (3): 435-442. Bains Sahej, Dotzler Steven M, Krijger Christian, Giudicessi John R, Ye Dan, Bikker Hennie, Rohatgi Ram K, Tester David J, Bos J Martijn, Wilde Arthur A M, Ackerman Michael |
| KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort. Life (Basel, Switzerland) 2022 4 12 (4): . Lorca Rebeca, Junco-Vicente Alejandro, Pérez-Pérez Alicia, Pascual Isaac, Persia-Paulino Yvan Rafael, González-Urbistondo Francisco, Cuesta-Llavona Elías, Fernández-Barrio Bárbara C, Morís César, Rubín José Manuel, Coto Eliecer, Gómez Juan, Reguero José Julián Rodrígu |
| Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart rhythm 2022 2 19 (6): 998-1007. Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael |
| Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Circulation. Genomic and precision medicine 2023 4 16 (2): e003726. Wei Zhou, Dan Ye, David J Tester, Sahej Bains, John R Giudicessi, Carla M Haglund-Turnquist, Kate M Orland, Craig T January, Lee L Eckhardt, Kathleen R Maginot, Michael J Ackerm |
| Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families. Molecular syndromology 2023 10 14 (5): 363-374. Elcin Bora, Ayca Y?ld?z Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan, Ebru Ozpelit, Ayfer Ulgenalp, Ahmet Okay Caglay |
| Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics. Biomolecules 2024 11 14 (11): . Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, Daniele Perrino, Silvia Genovese, Valentina Lanari, Daniela Righi, Federica Calì, Massimo Stefano Silvetti, Elena Falcone, Alessia Bauleo, Fabrizio Drago, Antonio Novelli, Anwar Bab |
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