Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Brugada Syndrome and CACNA1C[original query] |
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| Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart rhythm : the official journal of the Heart Rhythm Society 2010 Dec 7 (12): 1872-82. Burashnikov Elena, Pfeiffer Ryan, Barajas-Martinez Héctor, Delpón Eva, Hu Dan, Desai Mayurika, Borggrefe Martin, Häissaguerre Michel, Kanter Ronald, Pollevick Guido D, Guerchicoff Alejandra, Laiño Ruben, Marieb Mark, Nademanee Koonlawee, Nam Gi-Byoung, Robles Roberto, Schimpf Rainer, Stapleton Dwight D, Viskin Sami, Winters Stephen, Wolpert Christian, Zimmern Samuel, Veltmann Christian, Antzelevitch Charl |
| L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (7): 1799-806. Fukuyama Megumi, Ohno Seiko, Wang Qi, Kimura Hiromi, Makiyama Takeru, Itoh Hideki, Ito Makoto, Horie Mino |
| 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 |
| Novel SCN10A variants associated with Brugada syndrome. 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 2015 Apr . Fukuyama Megumi, Ohno Seiko, Makiyama Takeru, Horie Mino |
| Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Human molecular genetics 2015 May 24 (10): 2757-63. Le Scouarnec Solena, Karakachoff Matilde, Gourraud Jean-Baptiste, Lindenbaum Pierre, Bonnaud Stéphanie, Portero Vincent, Duboscq-Bidot Laëtitia, Daumy Xavier, Simonet Floriane, Teusan Raluca, Baron Estelle, Violleau Jade, Persyn Elodie, Bellanger Lise, Barc Julien, Chatel Stéphanie, Martins Raphaël, Mabo Philippe, Sacher Frédéric, Haïssaguerre Michel, Kyndt Florence, Schmitt Sébastien, Bézieau Stéphane, Le Marec Hervé, Dina Christian, Schott Jean-Jacques, Probst Vincent, Redon Richa |
| Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
| An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. Scientific reports 2018 10 8 (1): 14619. Blancard Malorie, Debbiche Amal, Kato Koichi, Cardin Christelle, Sabrina Guichard, Gandjbakhch Estelle, Probst Vincent, Haissaguerre Michel, Extramiana Fabrice, Hocini Mélèze, Olivier Geoffroy, Leenhardt Antoine, Guicheney Pascale, Rougier Jean-Sébasti |
| Putative role of Brugada syndrome genes in familial atrial fibrillation. European review for medical and pharmacological sciences 2019 9 23 (17): 7582-7598. Maltese P E, Aldanova E, Kriuchkova N, Averianov A, Manara E, Paolacci S, Bruson A, Miotto R, Sartori M, Guerri G, Zuntini M, Marceddu G, Tezzele S, Tadtaeva K, Chernova A, Aksyutina N, Nikulina S, Nodari S, Bertelli |
| CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. European journal of medical genetics 2020 1 63 (4): 103843. Mio Catia, Passon Nadia, Baldan Federica, Bregant Elisa, Monaco Elisabetta, Mancini Loretta, Demori Eliana, Damante Giusep |
| Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing. Heart rhythm 2022 1 19 (5): 798-806. Novelli Valeria, Memmi Mirella, Malovini Alberto, Mazzanti Andrea, Liu Nian, Yanfei Ruan, Bongianino Rossana, Denegri Marco, Monteforte Nicola, Bloise Raffaella, Morini Massimo, Napolitano Car |
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