Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Syncope and KCNH2[original query] |
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| 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 |
| Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circulation journal : official journal of the Japanese Circulation Society 2008 May 72 (5): 694-9. Nagaoka Iori, Shimizu Wataru, Itoh Hideki, Yamamoto Satoshi, Sakaguchi Tomoko, Oka Yuko, Tsuji Keiko, Ashihara Takashi, Ito Makoto, Yoshida Hidetada, Ohno Seiko, Makiyama Takeru, Miyamoto Yoshihiro, Noda Takashi, Kamakura Shiro, Akao Masaharu, Horie Mino |
| 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 |
| 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 |
| Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers With Normal QTc Interval: The Value of Sex, T-Wave Morphology, and Mutation Type. Circulation. Arrhythmia and electrophysiology 2018 Jul 11 (7): e005918. Platonov Pyotr G, McNitt Scott, Polonsky Bronislava, Rosero Spencer Z, Kutyifa Valentina, Huang Allison, Moss Arthur J, Zareba Wojcie |
| 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 |
| Quantitative T-wave morphology assessment from surface ECG is linked with cardiac events risk in genotype-positive KCNH2 mutation carriers with normal QTc values. Journal of cardiovascular electrophysiology 2019 10 30 (12): 2907-2913. Cortez Daniel, Zareba Wojciech, McNitt Scott, Polonsky Bronislava, Rosero Spencer Z, Platonov Pyotr |
| 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 |
| 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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