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| 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 |
| 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 |
| 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 |
| 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 |
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Circulation. Genomic and precision medicine 2021 Jul . Choi Seung Hoan, Jurgens Sean J, Haggerty Christopher M, Hall Amelia W, Halford Jennifer L, Morrill Valerie N, Weng Lu-Chen, Lagerman Braxton, Mirshahi Tooraj, Pettinger Mary, Guo Xiuqing, Lin Henry J, Alonso Alvaro, Soliman Elsayed Z, Kornej Jelena, Lin Honghuang, Moscati Arden, Nadkarni Girish N, Brody Jennifer A, Wiggins Kerri L, Cade Brian E, Lee Jiwon, Austin-Tse Christina, Blackwell Tom, Chaffin Mark D, Lee Christina J-Y, Rehm Heidi L, Roselli Carolina, , Redline Susan, Mitchell Braxton D, Sotoodehnia Nona, Psaty Bruce M, Heckbert Susan R, Loos Ruth J F, Vasan Ramachandran S, Benjamin Emelia J, Correa Adolfo, Boerwinkle Eric, Arking Dan E, Rotter Jerome I, Rich Stephen S, Whitsel Eric A, Perez Marco, Kooperberg Charles, Fornwalt Brandon K, Lunetta Kathryn L, Ellinor Patrick T, Lubitz Steven A, |
| 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 |
| Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ 2021 2 9 e10711. Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
| 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 |
| Associations between common ion channel single nucleotide polymorphisms and sudden cardiac death in adults: A MOOSE-compliant meta-analysis. Medicine 2018 Sep 97 (38): e12428. Liu Xiaoli, Shi Jianli, Xiao Peil |
| QT length during methadone maintenance treatment: gene × dose interaction. Fundamental & clinical pharmacology 2018 Aug . Zerdazi El-Hadi, Vorspan Florence, Marees Andries T, Naccache François, Lepine Jean-Pierre, Laplanche Jean-Louis, Prince Nathalie, Marie-Claire Cynthia, Bellivier Frank, Mouly Stéphane, Bloch Vanes |
| Postmortem Analysis of 4 Mutation Hotspots of KCNQ1, KCNH2, and SCN5A Genes in Sudden Unexplained Death in Southwest of China. The American journal of forensic medicine and pathology 2018 May . Jia Peng-Lin, Wang Yue-Bing, Fu Hua, Huang Wen-Li, Zhong Shu-Rong, Ma Lin, Li Yu-Hua, Dong Yi, Sun Zhong-Chun, Yang Lin, Qu Peng-Fei, Zhao Su, Qu Yong-Qiang, Xi Yan-Mei, Wang Shang-Wen, Tang Xue, Lei Pu-Pi |
| Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use. Scientific reports 2018 May 8 (1): 8443. Nagasawa Sayaka, Saitoh Hisako, Kasahara Shiori, Chiba Fumiko, Torimitsu Suguru, Abe Hiroko, Yajima Daisuke, Iwase Hirota |
| Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. Journal of the American College of Cardiology 2018 Mar 71 (11): 1217-1227. Tester David J, Wong Leonie C H, Chanana Pritha, Jaye Amie, Evans Jared M, FitzPatrick David R, Evans Margaret J, Fleming Peter, Jeffrey Iona, Cohen Marta C, Tfelt-Hansen Jacob, Simpson Michael A, Behr Elijah R, Ackerman Michael |
| A challenge for mutation specific risk stratification in long QT syndrome type 1. Journal of cardiology 2018 2 72 (1): 56-65. Yagi Noriaki, Itoh Hideki, Hisamatsu Takashi, Tomita Yukinori, Kimura Hiromi, Fujii Yusuke, Makiyama Takeru, Horie Minoru, Ohno Sei |
| Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy. Journal of cardiovascular development and disease 2018 1 4 (2): . Serie Daniel J, Crook Julia E, Necela Brian M, Axenfeld Bianca C, Dockter Travis J, Colon-Otero Gerardo, Perez Edith A, Thompson E Aubrey, Norton Nadi |
| Detection of Variants in Patients with Idiopathic Ventricular Fibrillation by Whole-exome Sequencing. Annals of clinical and laboratory science 2018 8 48 (4): 427-434. Chang Ya-Sian, Lee Chien-Chin, Huang Hsi-Yuan, Lin Kuo-Hung, Chen Jan-Yow, Chang Kuan-Cheng, Chang Jan-Gow |
| 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 |
| GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.
Scientific reports 2017 Dec 7 (1): 17075. Méndez-Giráldez Raúl, Gogarten Stephanie M, Below Jennifer E, Yao Jie, Seyerle Amanda A, Highland Heather M, Kooperberg Charles, Soliman Elsayed Z, Rotter Jerome I, Kerr Kathleen F, Ryckman Kelli K, Taylor Kent D, Petty Lauren E, Shah Sanjiv J, Conomos Matthew P, Sotoodehnia Nona, Cheng Susan, Heckbert Susan R, Sofer Tamar, Guo Xiuqing, Whitsel Eric A, Lin Henry J, Hanis Craig L, Laurie Cathy C, Avery Christy |
| [The prognostic value of kcnq1 gene mutations in patients after myocardial infarction]. Wiadomosci lekarskie (Warsaw, Poland : 1960) 2017 10 70 (4): 703-706. Olszak-Wa?kiewicz Marlena, Kramarz El?bie |
| Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes. Hereditas 2017 12 154 16. Olsson K Sigvard, Wålinder Olof, Jansson Ulf, Wilbe Maria, Bondeson Marie-Louise, Stattin Eva-Lena, Raha-Chowdhury Ruma, Williams Rog |
| Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. Journal of electrocardiology 2017 10 50 (6): 912-918. Zafari Zahra, Dalili Mohammad, Zeinali Sirus, Saber Siamak, Fazeli Far Amir Farjam, Akbari Mohammad Tag |
| Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PloS one 2017 12 12 (12): e0189618. Coll Monica, Striano Pasquale, Ferrer-Costa Carles, Campuzano Oscar, Matés Jesús, Del Olmo Bernat, Iglesias Anna, Pérez-Serra Alexandra, Mademont Irene, Picó Ferran, Oliva Antonio, Brugada Ram |
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- Page last updated:Mar 20, 2023
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