Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and SCN1B[original query] |
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| A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiology of disease 2008 Dec 32 (3): 349-54. Ohmori Iori, Ouchida Mamoru, Miki Takafumi, Mimaki Nobuyoshi, Kiyonaka Shigeki, Nishiki Teiichi, Tomizawa Kazuhito, Mori Yasuo, Matsui Hide |
| Mutations in sodium channel ß1- and ß2-subunits associated with atrial fibrillation. Circulation. Arrhythmia and electrophysiology 2009 Jun 2 (3): 268-75. Watanabe Hiroshi, Darbar Dawood, Kaiser Daniel W, Jiramongkolchai Kim, Chopra Sameer, Donahue Brian S, Kannankeril Prince J, Roden Dan |
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
American journal of human genetics 2012 Oct 91 (4): 744-53. Franceschini Nora, van Rooij Frank J A, Prins Bram P, Feitosa Mary F, Karakas Mahir, Eckfeldt John H, Folsom Aaron R, Kopp Jeffrey, Vaez Ahmad, Andrews Jeanette S, Baumert Jens, Boraska Vesna, Broer Linda, Hayward Caroline, Ngwa Julius S, Okada Yukinori, Polasek Ozren, Westra Harm-Jan, Wang Ying A, Del Greco M Fabiola, Glazer Nicole L, Kapur Karen, Kema Ido P, Lopez Lorna M, Schillert Arne, Smith Albert V, Winkler Cheryl A, Zgaga Lina, , Bandinelli Stefania, Bergmann Sven, Boban Mladen, Bochud Murielle, Chen Y D, Davies Gail, Dehghan Abbas, Ding Jingzhong, Doering Angela, Durda J Peter, Ferrucci Luigi, Franco Oscar H, Franke Lude, Gunjaca Grog, Hofman Albert, Hsu Fang-Chi, Kolcic Ivana, Kraja Aldi, Kubo Michiaki, Lackner Karl J, Launer Lenore, Loehr Laura R, Li Guo, Meisinger Christa, Nakamura Yusuke, Schwienbacher Christine, Starr John M, Takahashi Atsushi, Torlak Vesela, Uitterlinden André G, Vitart Veronique, Waldenberger Melanie, Wild Philipp S, Kirin Mirna, Zeller Tanja, Zemunik Tatijana, Zhang Qunyuan, Ziegler Andreas, Blankenberg Stefan, Boerwinkle Eric, Borecki Ingrid B, Campbell Harry, Deary Ian J, Frayling Timothy M, Gieger Christian, Harris Tamara B, Hicks Andrew A, Koenig Wolfgang, O' Donnell Christopher J, Fox Caroline S, Pramstaller Peter P, Psaty Bruce M, Reiner Alex P, Rotter Jerome I, Rudan Igor, Snieder Harold, Tanaka Toshihiro, van Duijn Cornelia M, Vollenweider Peter, Waeber Gerard, Wilson James F, Witteman Jacqueline C M, Wolffenbuttel Bruce H R, Wright Alan F, Wu Qingyu, Liu Yongmei, Jenny Nancy S, North Kari E, Felix Janine F, Alizadeh Behrooz Z, Cupples L Adrienne, Perry John R B, Morris Andrew |
| 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 |
| Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder? Forensic science international 2014 Mar 236 38-45. Liu Chao, Tester David J, Hou Yiding, Wang Wen, Lv Guoli, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
| 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 |
| Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. Scandinavian journal of pain 2018 6 5 (4): 217-225. Zhang Zhiping, Schmelz Martin, Segerdahl Märta, Quiding Hans, Centerholt Carina, Juréus Anna, Carr Thomas Hedley, Whiteley Jessica, Salter Hugh, Kvernebo Mari Skylstad, Ørstavik Kristin, Helås Tormod, Kleggetveit Inge-Petter, Lunden Lars Kristian, Jørum Ell |
| A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation. The American journal of cardiology 2018 12 123 (5): 787-793. Mechakra Asma, Footz Tim, Walter Michael, Aránega Amelia, Hernández-Torres Francisco, Morel Elodie, Millat Gilles, Yang Yi-Qing, Chahine Mohamed, Chevalier Philippe, Christé Georg |
| Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines 2020 5 8 (5): . Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Na 1.5-subunit mutations. Journal of biomedical research 2021 10 35 (5): 395-407. Zhu Yue, Wang Linlin, Cui Chang, Qin Huiyuan, Chen Hongwu, Chen Shaojie, Lin Yongping, Cheng Hongyi, Jiang Xiaohong, Chen Minglo |
| Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population. Annals of medicine 2022 12 54 (1): 1938-1951. Alghamdi Mansour A, Al-Eitan Laith N, Asiri Ashwag, Rababa'h Doaa M, Alqahtani Sultan A, Aldarami Mohammed S, Alsaeedi Manar A, Almuidh Raghad S, Alzahrani Abdulbari A, Sakah Ahmad H, El Nashar Eman Mohamad, Otaif Mansour Y, Abdel Ghaffar Nawal |
| Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing. Journal of human genetics 2023 11 . Regina Gamirova, Elena Shagimardanova, Takehiro Sato, Takayuki Kannon, Rimma Gamirova, Atsushi Taji |
| Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population. Journal of human genetics 2024 6 . Rui Dong, Ruifeng Jin, Hongwei Zhang, Haiyan Zhang, Min Xue, Yue Li, Kaihui Zhang, Yuqiang Lv, Xiaoying Li, Yi Liu, Zhongtao G |
| Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families. EBioMedicine 2024 10 109 105404. Karen L Oliver, Ingrid E Scheffer, Colin A Ellis, Bronwyn E Grinton, , Samuel F Berkovic, Melanie Bah |
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