Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 130 Records) |
Query Trace: Long QT Syndrome and KCNQ1[original query] |
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Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families. Journal of applied genetics 2018 9 59 (4): 463-469. Szperl Ma?gorzata, Kozicka Urszula, Kosiec Agnieszka, Kukla Piotr, Roszczynko Marta, 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 |
Genotype and clinical characteristics of congenital long QT syndrome in Thailand. Indian pacing and electrophysiology journal 2018 7 18 (5): 165-171. Saprungruang Ankavipar, Khongphatthanayothin Apichai, Mauleekoonphairoj John, Wandee Pharawee, Kanjanauthai Supaluck, Bhuiyan Zahurul A, Wilde Arthur A M, Poovorawan Yo |
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation. Heart rhythm 2018 6 15 (10): 1566-1574. Wuriyanghai Yimin, Makiyama Takeru, Sasaki Kenichi, Kamakura Tsukasa, Yamamoto Yuta, Hayano Mamoru, Harita Takeshi, Nishiuchi Suguru, Chen Jiarong, Kohjitani Hirohiko, Hirose Sayako, Yokoi Fumika, Gao Jingshan, Chonabayashi Kazuhisa, Watanabe Ken, Ohno Seiko, Yoshida Yoshinori, Kimura Takeshi, Horie Mino |
Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study. American journal of obstetrics and gynecology 2019 9 222 (3): 263.e1-263.e11. Cuneo Bettina F, Kaizer Alexander M, Clur Sally Ann, Swan Heikki, Herberg Ulrike, Winbo Annika, Rydberg Annika, Haugaa Kristina, Etheridge Susan, Ackerman Michael J, Dagradi Federica, Killen Stacy A S, Wacker-Gussmann Annette, Benson D Woodrow, Wilde A A M, Pan Zhaoxing, Lam Aimee, Spazzolini Carla, Horigome Hitoshi, Schwartz Peter J, |
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population. Stem cell research 2019 8 39 101510. Mura Manuela, Pisano Federica, Stefanello Manuela, Ginevrino Monia, Boni Marina, Calabrò Federica, Crotti Lia, Valente Enza Maria, Schwartz Peter J, Brink Paul A, Gnecchi Massimilia |
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene. Stem cell research 2019 3 36 101416. Mura Manuela, Pisano Federica, Stefanello Manuela, Ginevrino Monia, Boni Marina, Calabrò Federica, Crotti Lia, Valente Enza Maria, Schwartz Peter J, Brink Paul A, Gnecchi Massimilia |
Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population. Turkish journal of medical sciences 2019 3 49 (2): 453-457. Amirian Azam, Zafari Zahra, Sharifi Zohreh, Kordafshari Alireza, Karimipoor Morteza, Zeinali Siro |
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families. Iranian biomedical journal 2019 2 23 (3): 228-34. Amirian Azam, Zafari Zahra, Karimipoor Morteza, Kordafshari Alireza, Dalili Mohammad, Saber Siamak, Farjam Fazelifar Amir, Zeinali Siro |
Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing. Annals of human genetics 2019 Nov . Li Xin, Liu Nian, Bai Ro |
Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population. Cardiology 2019 Nov 1-8. Wang Feng, Liu Yang, Liao Hongtao, Xue Yumei, Zhan Xianzhang, Fang Xianhong, Liang Yuanhong, Wei Wei, Rao Fang, Zhang Qianhuan, Deng Hai, Lin Yubi, Liu Fangzhou, Lin Weidong, Zhang Bin, Wu Shul |
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 47-58. Walsh Roddy, Lahrouchi Najim, Tadros Rafik, Kyndt Florence, Glinge Charlotte, Postema Pieter G, Amin Ahmad S, Nannenberg Eline A, Ware James S, Whiffin Nicola, Mazzarotto Francesco, Škori?-Milosavljevi? Doris, Krijger Christian, Arbelo Elena, Babuty Dominique, Barajas-Martinez Hector, Beckmann Britt M, Bézieau Stéphane, Bos J Martijn, Breckpot Jeroen, Campuzano Oscar, Castelletti Silvia, Celen Candan, Clauss Sebastian, Corveleyn Anniek, Crotti Lia, Dagradi Federica, de Asmundis Carlo, Denjoy Isabelle, Dittmann Sven, Ellinor Patrick T, Ortuño Cristina Gil, Giustetto Carla, Gourraud Jean-Baptiste, Hazeki Daisuke, Horie Minoru, Ishikawa Taisuke, Itoh Hideki, Kaneko Yoshiaki, Kanters Jørgen K, Kimoto Hiroki, Kotta Maria-Christina, Krapels Ingrid P C, Kurabayashi Masahiko, Lazarte Julieta, Leenhardt Antoine, Loeys Bart L, Lundin Catarina, Makiyama Takeru, Mansourati Jacques, Martins Raphaël P, Mazzanti Andrea, Mörner Stellan, Napolitano Carlo, Ohkubo Kimie, Papadakis Michael, Rudic Boris, Molina Maria Sabater, Sacher Frédéric, Sahin Hatice, Sarquella-Brugada Georgia, Sebastiano Regina, Sharma Sanjay, Sheppard Mary N, Shimamoto Keiko, Shoemaker M Benjamin, Stallmeyer Birgit, Steinfurt Johannes, Tanaka Yuji, Tester David J, Usuda Keisuke, van der Zwaag Paul A, Van Dooren Sonia, Van Laer Lut, Winbo Annika, Winkel Bo G, Yamagata Kenichiro, Zumhagen Sven, Volders Paul G A, Lubitz Steven A, Antzelevitch Charles, Platonov Pyotr G, Odening Katja E, Roden Dan M, Roberts Jason D, Skinner Jonathan R, Tfelt-Hansen Jacob, van den Berg Maarten P, Olesen Morten S, Lambiase Pier D, Borggrefe Martin, Hayashi Kenshi, Rydberg Annika, Nakajima Tadashi, Yoshinaga Masao, Saenen Johan B, Kääb Stefan, Brugada Pedro, Robyns Tomas, Giachino Daniela F, Ackerman Michael J, Brugada Ramon, Brugada Josep, Gimeno Juan R, Hasdemir Can, Guicheney Pascale, Priori Silvia G, Schulze-Bahr Eric, Makita Naomasa, Schwartz Peter J, Shimizu Wataru, Aiba Takeshi, Schott Jean-Jacques, Redon Richard, Ohno Seiko, Probst Vincent, , Behr Elijah R, Barc Julien, Bezzina Connie |
An NGS-based genotyping in LQTS; minor genes are no longer minor. Journal of human genetics 2020 Jul . Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Mino |
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation 2020 Jul 142 (4): 324-338. Lahrouchi Najim, Tadros Rafik, Crotti Lia, Mizusawa Yuka, Postema Pieter G, Beekman Leander, Walsh Roddy, Hasegawa Kanae, Barc Julien, Ernsting Marko, Turkowski Kari L, Mazzanti Andrea, Beckmann Britt M, Shimamoto Keiko, Diamant Ulla-Britt, Wijeyeratne Yanushi D, Kucho Yu, Robyns Tomas, Ishikawa Taisuke, Arbelo Elena, Christiansen Michael, Winbo Annika, Jabbari Reza, Lubitz Steven A, Steinfurt Johannes, Rudic Boris, Loeys Bart, Shoemaker M Ben, Weeke Peter E, Pfeiffer Ryan, Davies Brianna, Andorin Antoine, Hofman Nynke, Dagradi Federica, Pedrazzini Matteo, Tester David J, Bos J Martijn, Sarquella-Brugada Georgia, Campuzano Óscar, Platonov Pyotr G, Stallmeyer Birgit, Zumhagen Sven, Nannenberg Eline A, Veldink Jan H, van den Berg Leonard H, Al-Chalabi Ammar, Shaw Christopher E, Shaw Pamela J, Morrison Karen E, Andersen Peter M, Müller-Nurasyid Martina, Cusi Daniele, Barlassina Cristina, Galan Pilar, Lathrop Mark, Munter Markus, Werge Thomas, Ribasés Marta, Aung Tin, Khor Chiea C, Ozaki Mineo, Lichtner Peter, Meitinger Thomas, van Tintelen J Peter, Hoedemaekers Yvonne, Denjoy Isabelle, Leenhardt Antoine, Napolitano Carlo, Shimizu Wataru, Schott Jean-Jacques, Gourraud Jean-Baptiste, Makiyama Takeru, Ohno Seiko, Itoh Hideki, Krahn Andrew D, Antzelevitch Charles, Roden Dan M, Saenen Johan, Borggrefe Martin, Odening Katja E, Ellinor Patrick T, Tfelt-Hansen Jacob, Skinner Jonathan R, van den Berg Maarten P, Olesen Morten Salling, Brugada Josep, Brugada Ramón, Makita Naomasa, Breckpot Jeroen, Yoshinaga Masao, Behr Elijah R, Rydberg Annika, Aiba Takeshi, Kääb Stefan, Priori Silvia G, Guicheney Pascale, Tan Hanno L, Newton-Cheh Christopher, Ackerman Michael J, Schwartz Peter J, Schulze-Bahr Eric, Probst Vincent, Horie Minoru, Wilde Arthur A, Tanck Michael W T, Bezzina Connie |
Fetal diagnosis of KCNQ1-variant long QT syndrome using fetal echocardiography and magnetocardiography. Pacing and clinical electrophysiology : PACE 2020 3 43 (4): 430-433. Desai Lajja, Wakai Ron, Tsao Sabrina, Strasburger Janette, Gotteiner Nina, Patel Angi |
NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis. Cardiovascular research 2020 2 117 (2): 472-483. Ronchi Carlotta, Bernardi Joyce, Mura Manuela, Stefanello Manuela, Badone Beatrice, Rocchetti Marcella, Crotti Lia, Brink Paul, Schwartz Peter J, Gnecchi Massimiliano, Zaza Anton |
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region. European heart journal 2021 9 42 (46): 4743-4755. Schwartz Peter J, Moreno Cristina, Kotta Maria-Christina, Pedrazzini Matteo, Crotti Lia, Dagradi Federica, Castelletti Silvia, Haugaa Kristina H, Denjoy Isabelle, Shkolnikova Maria A, Brink Paul A, Heradien Marshall J, Seyen Sandrine R M, Spätjens Roel L H M G, Spazzolini Carla, Volders Paul G |
Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons. American journal of physiology. Heart and circulatory physiology 2021 6 321 (1): H217-H227. Winbo Annika, Ramanan Suganeya, Eugster Emily, Rydberg Annika, Jovinge Stefan, Skinner Jonathan R, Montgomery Johanna |
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. NPJ genomic medicine 2021 6 6 (1): 51. Lacaze Paul, Sebra Robert, Riaz Moeen, Ingles Jodie, Tiller Jane, Thompson Bryony A, James Paul A, Fatkin Diane, Semsarian Christopher, Reid Christopher M, Tonkin Andrew M, Winship Ingrid, Schadt Eric, McNeil John |
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 |
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome. Heart rhythm 2021 11 19 (3): 435-442. Bains Sahej, Dotzler Steven M, Krijger Christian, Giudicessi John R, Ye Dan, Bikker Hennie, Rohatgi Ram K, Tester David J, Bos J Martijn, Wilde Arthur A M, Ackerman Michael |
KCNQ1 G219E and TRPM4 T160M polymorphisms are involved in the pathogenesis of long QT syndrome: A case report. Medicine 2021 1 100 (2): e24032. Zhao Yang, Feng Min, Shang Lu-Xiang, Sun Hua-Xin, Zhou Xian-Hui, Lu Yan-Mei, Zhang Ling, Xing Qiang, Li Yao-Dong, Tang Bao-Pe |
Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents. Journal of pediatric hematology/oncology 2022 5 . Wagener Rabea, Walter Carolin, Surowy Harald M, Brandes Danielle, Soura Stavrieta, Alzoubi Deya, Yasin Layal, Fischer Ute, Dugas Martin, Borkhardt Arndt, Brozou Triantafyll |
KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort. Life (Basel, Switzerland) 2022 4 12 (4): . Lorca Rebeca, Junco-Vicente Alejandro, Pérez-Pérez Alicia, Pascual Isaac, Persia-Paulino Yvan Rafael, González-Urbistondo Francisco, Cuesta-Llavona Elías, Fernández-Barrio Bárbara C, Morís César, Rubín José Manuel, Coto Eliecer, Gómez Juan, Reguero José Julián Rodrígu |
Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart rhythm 2022 2 19 (6): 998-1007. Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael |
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel. Orphanet journal of rare diseases 2022 10 17 (1): 394. Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu |
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland. Journal of the American Heart Association 2023 7 12 (14): e029845. Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B Davidsson, Rosa B Thorolfsdottir, Vinicius Tragante, Gudny A Arnadottir, Brynjar O Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F Gudbjartsson, Hilma Holm, David O Arnar, Kari Stefanss |
Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Circulation. Genomic and precision medicine 2023 4 16 (2): e003726. Wei Zhou, Dan Ye, David J Tester, Sahej Bains, John R Giudicessi, Carla M Haglund-Turnquist, Kate M Orland, Craig T January, Lee L Eckhardt, Kathleen R Maginot, Michael J Ackerm |
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families. Molecular syndromology 2023 10 14 (5): 363-374. Elcin Bora, Ayca Y?ld?z Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan, Ebru Ozpelit, Ayfer Ulgenalp, Ahmet Okay Caglay |
KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation. International journal of molecular sciences 2024 1 25 (2): . Antonia González-Garrido, Omar López-Ramírez, Abel Cerda-Mireles, Thania Navarrete-Miranda, Aranza Iztanami Flores-Arenas, Arturo Rojo-Domínguez, Leticia Arregui, Pedro Iturralde, Erika Antúnez-Argüelles, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Alessandra Carnevale, Teresa Villarreal-Moli |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
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