Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Long QT Syndrome and CACNA1C[original query] |
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| Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. Journal of the American College of Cardiology 2010 12 57 (1): 40-7. Barc Julien, Briec François, Schmitt Sébastien, Kyndt Florence, Le Cunff Martine, Baron Estelle, Vieyres Claude, Sacher Frédéric, Redon Richard, Le Caignec Cédric, Le Marec Hervé, Probst Vincent, Schott Jean-Jacqu |
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
BMC cardiovascular disorders 2011 11 (1): 29. Aouizerat Bradley E, Vittinghoff Eric, Musone Stacy L, Pawlikowska Ludmila, Kwok Pui-Yan, Olgin Jeffrey E, Tseng Zian |
| 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 |
| Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circulation. Cardiovascular genetics 2013 Jun 6 (3): 279-89. Boczek Nicole J, Best Jabe M, Tester David J, Giudicessi John R, Middha Sumit, Evans Jared M, Kamp Timothy J, Ackerman Michael |
| Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2014 Dec 16 (12): 1828-37. Fukuyama Megumi, Wang Qi, Kato Koichi, Ohno Seiko, Ding Wei-Guang, Toyoda Futoshi, Itoh Hideki, Kimura Hiromi, Makiyama Takeru, Ito Makoto, Matsuura Hiroshi, Horie Mino |
| Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. Annals of laboratory medicine 2017 10 38 (1): 54-58. Seo Soo Hyun, Kim So Yeon, Cho Sung Im, Park Hyunwoong, Lee Seungjun, Choi Jong Moon, Kim Man Jin, Lee Jee Soo, Ahn Kyung Jin, Song Mi Kyoung, Bae Eun Jung, Park Sung Sup, Seong Moon W |
| 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 |
| Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. Journal of cardiovascular electrophysiology 2021 12 33 (2): 262-273. Akgun-Dogan Ozlem, A?ao?lu Nihat B, K Demirkol Yasemin, Do?anay Levent, Ergül Yakup, Karacan Mehm |
| Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing. Journal of human genetics 2024 6 . Vigneshwar Senthivel, Bani Jolly, Arvinden Vr, Anjali Bajaj, Rahul Bhoyar, Mohamed Imran, Harie Vignesh, Mohit Kumar Divakar, Gautam Sharma, Nitin Rai, Kapil Kumar, Jayakrishnan Mp, Maniram Krishna, Jeyaprakash Shenthar, Muzaffar Ali, Shaad Abqari, Gulnaz Nadri, Vinod Scaria, Nitish Naik, Sridhar Sivasub |
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