Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: CAV3[original query] |
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Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. The Journal of biological chemistry 2004 1 279 (11): 9681-4. Khosravani Houman, Altier Christophe, Simms Brett, Hamming Kevin S, Snutch Terrance P, Mezeyova Janette, McRory John E, Zamponi Gerald |
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 |
Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. Gastroenterology 2010 Jul 139 (1): 130-9.e24. Roberts Kari E, Kawut Steven M, Krowka Michael J, Brown Robert S, Trotter James F, Shah Vijay, Peter Inga, Tighiouart Hocine, Mitra Nandita, Handorf Elizabeth, Knowles James A, Zacks Steven, Fallon Michael B, |
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 |
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. The Canadian journal of cardiology 0 28 (2): 196-200. Holst Anders G, Saber Siamak, Houshmand Massoud, Zaklyazminskaya Elena V, Wang Yinman, Jensen Henrik Kjærulf, Refsgaard Lena, Haunsø Stig, Svendsen Jesper Hastrup, Olesen Morten S, Tfelt-Hansen Jac |
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 |
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. The Canadian journal of cardiology 2013 Sep 29 (9): 1104-9. Andreasen Charlotte, Refsgaard Lena, Nielsen Jonas B, Sajadieh Ahmad, Winkel Bo G, Tfelt-Hansen Jacob, Haunsø Stig, Holst Anders G, Svendsen Jesper H, Olesen Morten |
Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease). Rare diseases (Austin, Tex.) 2013 Dec 1 (1): 1. Xie Zhihui, Nagarajan Vijayaraj, Sturdevant Daniel E, Iwaki Shoko, Chan Eunice, Wisch Laura, Young Michael, Nelson Celeste M, Porcella Stephen F, Druey Kirk |
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 |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. International journal of molecular sciences 2016 17 (8): . Rubattu Speranza, Bozzao Cristina, Pennacchini Ermelinda, Pagannone Erika, Musumeci Beatrice Maria, Piane Maria, Germani Aldo, Savio Camilla, Francia Pietro, Volpe Massimo, Autore Camillo, Chessa Lucia |
Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a. Epilepsia 2016 Apr . Calhoun Jeffrey D, Hawkins Nicole A, Zachwieja Nicole J, Kearney Jennifer |
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. Neurology. Genetics 2015 Dec 1 (4): e36. Izumi Rumiko, Niihori Tetsuya, Takahashi Toshiaki, Suzuki Naoki, Tateyama Maki, Watanabe Chigusa, Sugie Kazuma, Nakanishi Hirotaka, Sobue Gen, Kato Masaaki, Warita Hitoshi, Aoki Yoko, Aoki Masas |
A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.
Hepatology (Baltimore, Md.) 2016 Nov 64 (5): 1462-1472. Ulveling Damien, Le Clerc Sigrid, Cobat Aurélie, Labib Taoufik, Noirel Josselin, Laville Vincent, Coulonges Cédric, Carpentier Wassila, Nalpas Bertrand, Heim Markus H, Poynard Thierry, Cerny Andreas, Pol Stanislas, Bochud Pierre-Yves, Dabis François, Theodorou Ioannis, Lévy Yves, Salmon Dominique, Abel Laurent, Dominguez Stéphanie, Zagury Jean-François, , , |
Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation. PloS one 2017 8 12 (8): e0183690. Husser Daniela, Ueberham Laura, Hindricks Gerhard, Büttner Petra, Ingram Christie, Weeke Peter, Shoemaker M Benjamin, Adams Volker, Arya Arash, Sommer Philipp, Darbar Dawood, Roden Dan M, Bollmann Andre |
[Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death]. Fa yi xue za zhi 2017 Apr 33 (2): 114-119. Wu F Y, Tang X H, Gai L L, Kong X P, Hao B, Huang E W, Shi H, Sheng L H, Quan L, Liu S P, Luo |
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 |
Whole genome sequencing and rare variant analysis in essential tremor families. PloS one 2019 8 14 (8): e0220512. Odgerel Zagaa, Sonti Shilpa, Hernandez Nora, Park Jemin, Ottman Ruth, Louis Elan D, Clark Lorraine |
Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population.
Frontiers in genetics 2021 3 12 588452. Irvin Marguerite R, Aggarwal Praful, Claas Steven A, de Las Fuentes Lisa, Do Anh N, Gu C Charles, Matter Andrea, Olson Benjamin S, Patki Amit, Schwander Karen, Smith Joshua D, Srinivasasainagendra Vinodh, Tiwari Hemant K, Turner Amy J, Nickerson Deborah A, Rao Dabeeru C, Broeckel Ulrich, Arnett Donna |
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Brain : a journal of neurology 2021 12 145 (5): 1839-1853. Baez-Nieto David, Allen Andrew, Akers-Campbell Seth, Yang Lingling, Budnik Nikita, Pupo Amaury, Shin Young-Cheul, Genovese Giulio, Liao Maofu, Pérez-Palma Eduardo, Heyne Henrike, Lal Dennis, Lipscombe Diane, Pan Jen |
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder. Translational psychiatry 2022 Jun 12 (1): 234. Teles E Silva André Luíz, Glaser Talita, Griesi-Oliveira Karina, Corrêa-Velloso Juliana, Wang Jaqueline Yu Ting, da Silva Campos Gabriele, Ulrich Henning, Balan Andrea, Zarrei Mehdi, Higginbotham Edward J, Scherer Stephen W, Passos-Bueno Maria Rita, Sertié Andrea Laura |
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