Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 151 Records) |
Query Trace: Syndrome and KCNQ1[original query] |
---|
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 |
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy. BMC cardiovascular disorders 2019 Jul 19 (1): 174. Raju Hariharan, Ware James S, Skinner Jonathan R, Hedley Paula L, Arno Gavin, Love Donald R, van der Werf Christian, Tfelt-Hansen Jacob, Winkel Bo Gregers, Cohen Marta C, Li Xinzhong, John Shibu, Sharma Sanjay, Jeffery Steve, Wilde Arthur A M, Christiansen Michael, Sheppard Mary N, Behr Elijah |
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. Journal of clinical medicine 2019 7 8 (7): . Campuzano Oscar, Fernandez-Falgueras Anna, Lemus Ximena, Sarquella-Brugada Georgia, Cesar Sergi, Coll Monica, Mates Jesus, Arbelo Elena, Jordà Paloma, Perez-Serra Alexandra, Del Olmo Bernat, Ferrer-Costa Carles, Iglesias Anna, Fiol Victoria, Puigmulé Marta, Lopez Laura, Pico Ferran, Brugada Josep, Brugada Ram |
Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome. Fetal and pediatric pathology 2019 Apr 1-9. Vojdani Samaneh, Amirsalari Susan, Milanizadeh Saman, Molaei Fatemeh, Ajalloueyane Mohammad, Khosravi Arezoo, Hamzehzadeh Leila, Ghasemi Mohammad Mehdi, Talee Mohammad Reza, Abbaszadegan Mohammad Re |
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 |
Single nucleotide polymorphisms in Renalase and KCNQ1 genes and female infertility: A cross-sectional study in Pakistan. Andrologia 2019 10 51 (10): e13434. Fatima Syeda Sadia, Rehman Rehana, Martins Russell Seth, Alam Faiza, Ashraf Mussar |
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 |
Genetic homozygosity in a diverse population: An experience of long QT syndrome. International journal of cardiology 2020 5 316 117-124. Mahdieh Nejat, Khorgami Mohammadrafi, Soveizi Mahdieh, Seyed Aliakbar Saranaz, Dalili Mohammad, Rabbani Bahar |
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 |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
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 |
Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome. Heart rhythm 2023 2 . Christiansen Morten Krogh, Kjær-Sørensen Kasper, Clavsen Natacha C, Dittmann Sven, Jensen Maja Fuhlendorff, Guldbrandsen Halvor Østerby, Pedersen Lisbeth Nørum, Sørensen Rikke Hasle, Lildballe Dorte Launholt, Müller Klara, Müller Patrick, Vogel Kira, Rudic Boris, Borggrefe Martin, Oxvig Claus, Aalkjær Christian, Schulze-Bahr Eric, Matchkov Vladimir, Bundgaard Henning, Jensen Henrik Kjæru |
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:Apr 22, 2024
- Content source: