Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Syndrome and KCNJ2[original query] |
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Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. American journal of medical genetics. Part A 2006 1 140 (4): 312-21. Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge S P, Quitania L, Kramer J H, Miller B L, Fu Y H, Ptácek L |
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007 Jan 115 (3): 361-7. Arnestad Marianne, Crotti Lia, Rognum Torleiv O, Insolia Roberto, Pedrazzini Matteo, Ferrandi Chiara, Vege Ashild, Wang Dao W, Rhodes Troy E, George Alfred L, Schwartz Peter |
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Nature genetics 2009 Apr 41 (4): 4. Pfeufer A, Sanna S, Arking DE, Müller M, Gateva V, Fuchsberger C, Ehret GB, Orrú M, Pattaro C, Köttgen A, Perz S, Usala G, Barbalic M, Li M, Pütz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Mühleisen TW, Dei M, Happle C, Möhlenkamp S, Crisponi L, Erbel R, Jöckel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Müller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kääb S, Abecasis GR, Chakravarti A |
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 |
Phenotype variability in patients carrying KCNJ2 mutations. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 344-53. Kimura Hiromi, Zhou Jun, Kawamura Mihoko, Itoh Hideki, Mizusawa Yuka, Ding Wei-Guang, Wu Jie, Ohno Seiko, Makiyama Takeru, Miyamoto Akashi, Naiki Nobu, Wang Qi, Xie Yu, Suzuki Tsugutoshi, Tateno Shigeru, Nakamura Yoshihide, Zang Wei-Jin, Ito Makoto, Matsuura Hiroshi, Horie Mino |
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 implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. Journal of the American College of Cardiology 2014 Apr 63 (14): 1430-7. Weeke Peter, Mosley Jonathan D, Hanna David, Delaney Jessica T, Shaffer Christian, Wells Quinn S, Van Driest Sara, Karnes Jason H, Ingram Christie, Guo Yan, Shyr Yu, Norris Kris, Kannankeril Prince J, Ramirez Andrea H, Smith Joshua D, Mardis Elaine R, Nickerson Deborah, George Alfred L, Roden Dan |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2015 Jun . Jagodzi?ska Michalina, Szperl Ma?gorzata, Poni?ska Joanna, Kosiec Agnieszka, Gajda Robert, Kukla Piotr, Biernacka El?bieta Katarzy |
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea. Journal of Korean medical science 2018 8 33 (32): e200. Son Min-Jeong, Kim Min-Kyoung, Yang Kyung-Moo, Choi Byung-Ha, Lee Bong Woo, Yoo Seong |
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. 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 2018 1 20 (10): 1675-1682. Inoue Yuko Y, Aiba Takeshi, Kawata Hiro, Sakaguchi Tomoko, Mitsuma Wataru, Morita Hiroshi, Noda Takashi, Takaki Hiroshi, Toyohara Keiko, Kanaya Yoshiaki, Itoi Toshiyuki, Mitsuhashi Takeshi, Sumitomo Naokata, Cho Yongkeun, Yasuda Satoshi, Kamakura Shiro, Kusano Kengo, Miyamoto Yoshihiro, Horie Minoru, Shimizu Wata |
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. Journal of clinical medicine 2019 7 8 (7): . Campuzano Oscar, Fernandez-Falgueras Anna, Lemus Ximena, Sarquella-Brugada Georgia, Cesar Sergi, Coll Monica, Mates Jesus, Arbelo Elena, Jordà Paloma, Perez-Serra Alexandra, Del Olmo Bernat, Ferrer-Costa Carles, Iglesias Anna, Fiol Victoria, Puigmulé Marta, Lopez Laura, Pico Ferran, Brugada Josep, Brugada Ram |
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 |
Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome. Heart rhythm 2023 2 . Christiansen Morten Krogh, Kjær-Sørensen Kasper, Clavsen Natacha C, Dittmann Sven, Jensen Maja Fuhlendorff, Guldbrandsen Halvor Østerby, Pedersen Lisbeth Nørum, Sørensen Rikke Hasle, Lildballe Dorte Launholt, Müller Klara, Müller Patrick, Vogel Kira, Rudic Boris, Borggrefe Martin, Oxvig Claus, Aalkjær Christian, Schulze-Bahr Eric, Matchkov Vladimir, Bundgaard Henning, Jensen Henrik Kjæru |
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- Page last updated:Apr 22, 2024
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