Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 46 Records) |
Query Trace: Syndrome and NA[original query] |
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS genetics 2009 Sep 5 (9): e1000649. Singh Nanda A, Pappas Chris, Dahle E Jill, Claes Lieve R F, Pruess Timothy H, De Jonghe Peter, Thompson Joel, Dixon Missy, Gurnett Christina, Peiffer Andy, White H Steve, Filloux Francis, Leppert Mark |
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circulation. Arrhythmia and electrophysiology 2009 Dec 2 (6): 667-76. Cheng Jianding, Van Norstrand David W, Medeiros-Domingo Argelia, Valdivia Carmen, Tan Bi-hua, Ye Bin, Kroboth Stacie, Vatta Matteo, Tester David J, January Craig T, Makielski Jonathan C, Ackerman Michael |
Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jun 7 (6): 771-8. Tan Bi-Hua, Pundi Kavitha N, Van Norstrand David W, Valdivia Carmen R, Tester David J, Medeiros-Domingo Argelia, Makielski Jonathan C, Ackerman Michael |
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits. BMC medical genetics 2010 11 (1): 15. Kepp Katrin, Org Elin, Sõber Siim, Kelgo Piret, Viigimaa Margus, Veldre Gudrun, Tõnisson Neeme, Juhanson Peeter, Putku Margus, Kindmark Andreas, Kozich Viktor, Laan Mar |
SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility. PloS one 2012 7 (8): e42037. van Hoorn Frans, Campian Maria E, Spijkerboer Anje, Blom Marieke T, Planken R Nils, van Rossum Albert C, de Bakker Jacques M T, Wilde Arthur A M, Groenink Maarten, Tan Hanno |
High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circulation. Cardiovascular genetics 2012 Aug 5 (4): 450-9. Olesen Morten S, Yuan Lei, Liang Bo, Holst Anders G, Nielsen Nikolaj, Nielsen Jonas B, Hedley Paula L, Christiansen Michael, Olesen Søren-Peter, Haunsø Stig, Schmitt Nicole, Jespersen Thomas, Svendsen Jesper |
Genetic polymorphisms of SCN10A are associated with functional dyspepsia in Japanese subjects. Journal of gastroenterology 2013 Jan 48 (1): 73-80. Arisawa Tomiyasu, Tahara Tomomitsu, Shiroeda Hisakazu, Minato Takahiro, Matsue Yasuhiro, Saito Takashi, Fukuyama Tomoki, Otsuka Toshimi, Fukumura Atsushi, Nakamura Masakatsu, Shibata Tomoyu |
The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study. Journal of neurogastroenterology and motility 2012 Jan 18 (1): 1. Jung KT, Park H, Kim JH, Shin DJ, Joung BY, Lee MH, Jang YS |
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiology of disease 2013 Feb 50 209-17. Ohmori Iori, Ouchida Mamoru, Kobayashi Katsuhiro, Jitsumori Yoshimi, Mori Akiko, Michiue Hiroyuki, Nishiki Teiichi, Ohtsuka Yoko, Matsui Hide |
High-throughput genetic characterization of a cohort of Brugada syndrome patients. Human molecular genetics 2015 Oct 24 (20): 5828-35. Di Resta Chiara, Pietrelli Alessandro, Sala Simone, Della Bella Paolo, De Bellis Gianluca, Ferrari Maurizio, Bordoni Roberta, Benedetti Sa |
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. PloS one 2015 10 (4): e0125861. Schiessl-Weyer Jasmin, Roa Pedro, Laccone Franco, Kluge Britta, Tichy Alexander, De Almeida Ribeiro Euripedes, Prohaska Rainer, Stoeter Peter, Siegl Claudia, Salzer Ulri |
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circulation. Cardiovascular genetics 2015 Aug 8 (4): 582-95. Kapplinger Jamie D, Giudicessi John R, Ye Dan, Tester David J, Callis Thomas E, Valdivia Carmen R, Makielski Jonathan C, Wilde Arthur A, Ackerman Michael |
Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population. International journal of legal medicine 2016 Jun . Zhang Liyong, Zhou Feng, Huang Lei, Wu Qiuping, Zheng Jinxiang, Wu Yeda, Yin Kun, Cheng Jiandi |
Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. Translational research : the journal of laboratory and clinical medicine 2017 11 191 81-92.e7. Auerbach David S, Biton Yitschak, Polonsky Bronislava, McNitt Scott, Gross Robert A, Dirksen Robert T, Moss Arthur |
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. Heart rhythm 2017 Jan . Ishikawa Taisuke, Ohno Seiko, Murakami Takashi, Yoshida Kentaro, Mishima Hiroyuki, Fukuoka Tetsuya, Kimoto Hiroki, Sakamoto Risa, Ohkusa Takafumi, Aiba Takeshi, Nogami Akihiko, Sumitomo Naokata, Shimizu Wataru, Yoshiura Koh-Ichiro, Horigome Hitoshi, Horie Minoru, Makita Naoma |
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. Journal of the National Cancer Institute 2018 Jun . Fischer Nicholas W, Prodeus Aaron, Tran James, Malkin David, Gariépy Je |
A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration. The Journal of neuroscience : the official journal of the Society for Neuroscience 2018 Jun 38 (24): 5551-5566. Kamijo Satoshi, Ishii Yuichiro, Horigane Shin-Ichiro, Suzuki Kanzo, Ohkura Masamichi, Nakai Junichi, Fujii Hajime, Takemoto-Kimura Sayaka, Bito Haruhi |
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome. Journal of endocrinological investigation 2018 11 42 (6): 653-665. Zhong F, Ying H, Jia W, Zhou X, Zhang H, Guan Q, Xu J, Fang L, Zhao J, Xu |
Carbohydrate and sodium intake and physical activity interact with genetic risk scores of four genetic variants mainly related to lipid metabolism to modulate metabolic syndrome risk in Korean middle-aged adults. The British journal of nutrition 2019 Sep 1-9. Zhou Jun-Yu, Song Mi Young, Park Sunm |
Genetic arrhythmias complicating patients with dilated cardiomyopathy. Heart rhythm 2019 Sep . Li Zongzhe, Chen Peng, Li Chenze, Tan Lun, Xu Jinchao, Wang Hong, Sun Yang, Wang Yan, Zhao Chunxia, Link Mark S, Wilde Arthur A M, Wang Dao Wu, Wang Dao W |
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions. Human mutation 2020 1 41 (4): 850-859. Doisne Nicolas, Waldmann Victor, Redheuil Alban, Waintraub Xavier, Fressart Véronique, Ader Flavie, Fossé Lucie, Hidden-Lucet Françoise, Gandjbakhch Estelle, Neyroud Nathal |
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients. Clinical kidney journal 2021 6 14 (6): 1545-1551. Zacchia Miriam, Blanco Francesca Del Vecchio, Torella Annalaura, Raucci Raffaele, Blasio Giancarlo, Onore Maria Elena, Marchese Emanuela, Trepiccione Francesco, Vitagliano Caterina, Iorio Valentina Di, Alessandra Perna, Simonelli Francesca, Nigro Vincenzo, Capasso Giovambattista, Viggiano Davi |
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN 2021 10 33 (2): 305-325. Viering Daan, Schlingmann Karl P, Hureaux Marguerite, Nijenhuis Tom, Mallett Andrew, Chan Melanie M Y, van Beek André, van Eerde Albertien M, Coulibaly Jean-Marie, Vallet Marion, Decramer Stéphane, Pelletier Solenne, Klaus Günter, Kömhoff Martin, Beetz Rolf, Patel Chirag, Shenoy Mohan, Steenbergen Eric J, Anderson Glenn, Bongers Ernie M H F, Bergmann Carsten, Panneman Daan, Rodenburg Richard J, Kleta Robert, Houillier Pascal, Konrad Martin, Vargas-Poussou Rosa, Knoers Nine V A M, Bockenhauer Detlef, de Baaij Jeroen H F, |
Induced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes. Biology 2021 10 10 (10): . Hayama Emiko, Furutani Yoshiyuki, Kawaguchi Nanako, Seki Akiko, Nagashima Yoji, Okita Keisuke, Takeuchi Daiji, Matsuoka Rumiko, Inai Kei, Hagiwara Nobuhisa, Nakanishi Tosh |
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 Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome. JACC. Clinical electrophysiology 2022 3 8 (3): 297-305. Suzuki Keisuke, Sonoda Keiko, Aoki Hisaaki, Nakamura Yuko, Watanabe Seiichi, Yoshida Yoko, Hoshino Kenji, Ozawa Junichi, Imamura Tomohiko, Aiba Takeshi, Kato Koichi, Makiyama Takeru, Kusano Kengo, Horie Minoru, Ohno Sei |
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. Journal of the American Society of Nephrology : JASN 2022 10 34 (2): 333-345. Viering Daan H H M, Hureaux Marguerite, Neveling Kornelia, Latta Femke, Kwint Michael, Blanchard Anne, Konrad Martin, Bindels René J M, Schlingmann Karl-Peter, Vargas-Poussou Rosa, de Baaij Jeroen H |
The risk of pediatric cardiovascular diseases in offspring born to mothers with systemic lupus erythematosus: a nationwide study. Frontiers in pediatrics 2023 12 11 1294823. Jong Ho Cha, Jae Kyoon Hwang, Young-Jin Choi, Jae Yoon |
Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13. International journal of legal medicine 2023 12 . Dong Qu, Peter Schürmann, Thomas Rothämel, Jessica Fleßner, Daniela Rehberg, Thilo Dörk, Michael Klintsch |
Reverse Phenotypes of Patients with Genetically Confirmed Liddle's Syndrome. Clinical journal of the American Society of Nephrology : CJASN 2024 1 . Granhøj Jeff, Nøhr Thomas K, Hinrichs Gitte R, Rasmussen Maria, Svenningsen P |
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- Page last updated:May 06, 2024
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