HuGE Literature Finder
Records 1-30
|
Targeting the population for gene therapy with MYBPC3.
Journal of molecular and cellular cardiology 2020 Oct . Carrier Luc |
|
Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report.
Molecular medicine reports 2020 Apr . Fan Peng, Zhang Di, Yang Kun-Qi, Tian Tao, Luo Fang, Liu Ya-Xin, Wang Lin-Ping, Zhou Xian-Lia |
|
Systematic Meta-Analysis of the Association Between a Common NOS1AP Genetic Polymorphism, the QTc Interval, and Sudden Death.
International heart journal 2019 Aug . Zang Xiaobiao, Li Sisi, Zhao Yonghui, Chen Ke, Wang Xianqing, Song Weifeng, Ma Jifang, Tu Xin, Xia Yunlong, Zhang Shulong, Gao Chuan |
|
A common indel polymorphism of the Desmoglein-2 (DSG2) is associated with sudden cardiac death in Chinese populations.
Forensic science international 2019 Jun 301 382-387. Zou Yan, Zhang Qing, Zhang Jianhua, Chen Xuekun, Zhou Wei, Yang Zhenzhen, Yang Qi, Yu Huan, Li Lijuan, He Yan, Li Chengtao, Zhang Suhua, Zhu Shaohua, Luo Bin, Gao Yuzh |
|
Usefulness of Single Nucleotide Polymorphisms as Predictors of Sudden Cardiac Death.
The American journal of cardiology 2019 Mar . Tamariz Leonardo, Balda Javier, Pareja Dennise, Palacio Ana, Myerburg Robert J, Conway Douglas, Davis Lea, Goldberger Jeffrey |
|
Predictive value of exercise testing in athletes with ventricular ectopy evaluated by cardiac magnetic resonance.
Heart rhythm 2019 Feb 16 (2): 239-248. Cipriani Alberto, Zorzi Alessandro, Sarto Patrizio, Donini Martino, Rigato Ilaria, Bariani Riccardo, De Lazzari Manuel, Pilichou Kalliopi, Thiene Gaetano, Iliceto Sabino, Basso Cristina, Corrado Domenico, Perazzolo Marra Martina, Bauce Barba |
GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations.
PloS one 2019 14 (6): e0217796. Swenson Brenton R, Louie Tin, Lin Henry J, Méndez-Giráldez Raúl, Below Jennifer E, Laurie Cathy C, Kerr Kathleen F, Highland Heather, Thornton Timothy A, Ryckman Kelli K, Kooperberg Charles, Soliman Elsayed Z, Seyerle Amanda A, Guo Xiuqing, Taylor Kent D, Yao Jie, Heckbert Susan R, Darbar Dawood, Petty Lauren E, McKnight Barbara, Cheng Susan, Bello Natalie A, Whitsel Eric A, Hanis Craig L, Nalls Mike A, Evans Daniel S, Rotter Jerome I, Sofer Tamar, Avery Christy L, Sotoodehnia No |
|
Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.
Diabetes & metabolism 2018 Oct . Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, Degroote P, Laurent J M, Tiffreau V, Jannin A, Humbert L, Ben Hamou A, Tard C, Ben Yaou R, Lamblin N, Klug D, Richard P, Vigouroux C, Bonne G, Vantyghem M C, |
|
Prognostic predictive value of TLR4 polymorphisms in Han Chinese population with hypertrophic cardiomyopathy.
The Kaohsiung journal of medical sciences 2018 Oct 34 (10): 569-575. Han Ke, Li Yan-Pi |
|
Noncardiac genetic predisposition in sudden infant death syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug . Gray Belinda, Tester David J, Wong Leonie Ch, Chanana Pritha, Jaye Amie, Evans Jared M, Baruteau Alban-Elouen, Evans Margaret, Fleming Peter, Jeffrey Iona, Cohen Marta, Tfelt-Hansen Jacob, Simpson Michael A, Ackerman Michael J, Behr Elijah |
|
QT length during methadone maintenance treatment: Gene x 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 |
|
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.
Circulation 2018 Jun 137 (25): 2705-2715. Shanks Garrett W, Tester David J, Ackerman Jaeger P, Simpson Michael A, Behr Elijah R, White Steven M, Ackerman Michael |
|
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 |
|
Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study.
Circulation research 2018 Apr 122 (8): 1109-1118. Marian Ali J, Tan Yanli, Li Lili, Chang Jeffrey, Syrris Petros, Hessabi Manouchehr, Rahbar Mohammad H, Willerson James T, Cheong Benjamin Y, Liu Chia-Ying, Kleiman Neal S, Bluemke David A, Nagueh Sherif |
|
Identification of sarcomeric variants in probands with a clinical diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).
Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
|
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 |
|
Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction.
BMC medical genetics 2017 Nov 18 (1): 138. Jabbari Reza, Jabbari Javad, Glinge Charlotte, Risgaard Bjarke, Sattler Stefan, Winkel Bo Gregers, Terkelsen Christian Juhl, Tilsted Hans-Henrik, Jensen Lisette Okkels, Hougaard Mikkel, Haunsø Stig, Engstrøm Thomas, Albert Christine M, Tfelt-Hansen Jac |
|
High serum serotonin in sudden infant death syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2017 Jul . Haynes Robin L, Frelinger Andrew L, Giles Emma K, Goldstein Richard D, Tran Hoa, Kozakewich Harry P, Haas Elisabeth A, Gerrits Anja J, Mena Othon J, Trachtenberg Felicia L, Paterson David S, Berry Gerard T, Adeli Khosrow, Kinney Hannah C, Michelson Alan |
|
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Circulation. Cardiovascular genetics 2017 Jun 10 (3): . Mellor Greg, Laksman Zachary W M, Tadros Rafik, Roberts Jason D, Gerull Brenda, Simpson Christopher S, Klein George J, Champagne Jean, Talajic Mario, Gardner Martin, Steinberg Christian, Arbour Laura, Birnie David H, Angaran Paul, Leather Richard, Sanatani Shubhayan, Chauhan Vijay S, Seifer Colette, Healey Jeffrey S, Krahn Andrew |
|
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
Circulation. Arrhythmia and electrophysiology 2017 Apr 10 (4): . Landstrom Andrew P, Dailey-Schwartz Andrew L, Rosenfeld Jill A, Yang Yaping, McLean Margaret J, Miyake Christina Y, Valdes Santiago O, Fan Yuxin, Allen Hugh D, Penny Daniel J, Kim Jeffrey |
|
An insertion/deletion polymorphism within 3'UTR of RYR2 modulates sudden unexplained death risk in Chinese populations.
Forensic science international 2017 Jan 270 165-172. Wang Shouyu, Zhang Zhixiang, Yang Ya, Wang Chaoqun, Tao Ruiyang, Hu Shuxiang, Yin Zhixia, Zhang Qing, Li Lijuan, He Yan, Zhu Shaohua, Li Chengtao, Zhang Suhua, Zhang Jianhua, Sheng Lihui, Wu Fangyu, Luo Bin, Gao Yuzh |
|
Genetic analysis in post-mortem samples with micro-ischemic alterations.
Forensic science international 2017 Jan 271 120-125. Campuzano Oscar, Sanchez-Molero Olallo, Mademont-Soler Irene, Coll Monica, Allegue Catarina, Ferrer-Costa Carles, Mates Jesus, Perez-Serra Alexandra, Del Olmo Bernat, Iglesias Anna, Sarquella-Brugada Georgia, Brugada Josep, Borondo Juan Carlos, Castella Josep, Medallo Jordi, Brugada Ram |
|
A Common Variant in SCN5A and the Risk of Ventricular Fibrillation Caused by First ST-Segment Elevation Myocardial Infarction.
PloS one 2017 12 (1): e0170193. Jabbari Reza, Glinge Charlotte, Jabbari Javad, Risgaard Bjarke, Winkel Bo Gregers, Terkelsen Christian Juhl, Tilsted Hans-Henrik, Jensen Lisette Okkels, Hougaard Mikkel, Haunsø Stig, Engstrøm Thomas, Albert Christine M, Tfelt-Hansen Jac |
|
GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.
Forensic science international 2016 Dec 270 178-182. Wu Qiuping, Wu Yeda, Zhang Liyong, Zheng Jinxiang, Tang Shuangbo, Cheng Jiandi |
|
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
Genetic testing and molecular biomarkers 2016 Nov 20 (11): 674-679. Jaafar Nawel, Gómez Juan, Kammoun Ikram, Zairi Ihsen, Amara Wael Ben, Kachboura Salem, Kraiem Sondes, Hammami Mohamed, Iglesias Sara, Alonso Belén, Coto Eliec |
|
A phase II open-label multicenter study of gefitinib in combination with irradiation followed by chemotherapy in patients with inoperable stage III non-small cell lung cancer.
Oncotarget 2016 Oct . Levy Antonin, Bardet Etienne, Lacas Benjamin, Pignon Jean-Pierre, Adam Julien, Lacroix Ludovic, Artignan Xavier, Verrelle Pierre, Le Péchoux Céci |
|
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.
American journal of human genetics 2016 Sep 99 (3): 762-9. Guo Dong-Chuan, Grove Megan L, Prakash Siddharth K, Eriksson Per, Hostetler Ellen M, LeMaire Scott A, Body Simon C, Shalhub Sherene, Estrera Anthony L, Safi Hazim J, Regalado Ellen S, Zhou Wei, Mathis Michael R, , , Eagle Kim A, Yang Bo, Willer Cristen J, Boerwinkle Eric, Milewicz Dianna |
|
Association between Beta1 -Adrenergic Receptor Polymorphism and Risk of ICD Shock in Heart Failure Patients.
Pacing and clinical electrophysiology : PACE 2016 Jun 39 (6): 557-64. Zanolla Luisa, Guarise Paola, Tomasi Luca, Vassanelli Corrado, Cicorella Nicola, Zanini Roberto, Guarrera Simonetta, Fiorito Giovanni, Matullo Giusep |
|
Beer Drinking Associates with Lower Burden of Amyloid Beta Aggregation in the Brain: Helsinki Sudden Death Series.
Alcoholism, clinical and experimental research 2016 May . Kok Eloise H, Karppinen Toni T, Luoto Teemu, Alafuzoff Irina, Karhunen Pekka |
|
Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.
Neurology. Genetics 2016 Apr 2 (2): e55. Abdelwahab Magy, Blankenship Derek, Schiffmann Rapha |
|
The ABCB1, rs9282564, AG and TT Genotypes and the COMT, rs4680, AA Genotype are less frequent in Deceased Patients with Opioid Addiction (DOA) than in Living Patients with Opioid Addiction (LOA).
Basic & clinical pharmacology & toxicology 2016 Apr . Christoffersen Dorte J, Damkier Per, Feddersen Søren, Möller Sören, Thomsen Jørgen L, Brasch-Andersen Charlotte, Brøsen K |
|
The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.
The Canadian journal of cardiology 2016 Apr . Krahn Andrew D, Healey Jeffrey S, Gerull Brenda, Angaran Paul, Chakrabarti Santabhanu, Sanatani Shubhayan, Arbour Laura, Laksman Zachary W M, Carroll Sandra L, Seifer Colette, Green Martin, Roberts Jason D, Talajic Mario, Hamilton Robert, Gardner Mart |
|
GLUCOCORTICOID RECEPTOR-RELATED GENES: GENOTYPE AND BRAIN GENE EXPRESSION RELATIONSHIPS TO SUICIDE AND MAJOR DEPRESSIVE DISORDER.
Depression and anxiety 2016 Mar . Yin Honglei, Galfalvy Hanga, Pantazatos Spiro P, Huang Yung-Yu, Rosoklija Gorazd B, Dwork Andrew J, Burke Ainsley, Arango Victoria, Oquendo Maria A, Mann J Jo |
|
A pilot integrative genomics study of GABA and glutamate neurotransmitter systems in suicide, suicidal behavior, and major depressive disorder.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2016 Feb . Yin Honglei, Pantazatos Spiro P, Galfalvy Hanga, Huang Yung-Yu, Rosoklija Gorazd B, Dwork Andrew J, Burke Ainsley, Arango Victoria, Oquendo Maria A, Mann Joseph Jo |
|
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
International journal of legal medicine 2016 Feb . Neubauer Jacqueline, Haas Cordula, Bartsch Christine, Domingo-Medeiros Argelia, Berger Wolfga |
|
Associations of Prolonged QTc in Sickle Cell Disease.
PloS one 2016 11 (10): e0164526. Indik Julia H, Nair Vineet, Rafikov Ruslan, Nyotowidjojo Iwan S, Bisla Jaskanwal, Kansal Mayank, Parikh Devang S, Robinson Melissa, Desai Anand, Oberoi Megha, Gupta Akash, Abbasi Taimur, Khalpey Zain, Patel Amit R, Lang Roberto M, Dudley Samuel C, Choi Bum-Rak, Garcia Joe G N, Machado Roberto F, Desai Ankit |
|
Mutational analysis of SCN5A gene in long QT syndrome.
Meta gene 2015 Dec 6 26-35. Qureshi Sameera Fatima, Ali Altaf, John Princy, Jadhav Amol P, Venkateshwari Ananthapur, Rao Hygriv, Jayakrishnan M P, Narasimhan Calambur, Shenthar Jayaprakash, Thangaraj Kumarasamy, Nallari Pratib |
|
Presence or Absence of QTc Prolongation in Buprenorphine-Naloxone Among Youth With Opioid Dependence.
Journal of addiction medicine 2015 Dec . Poole Sabrina A, Pecoraro Anna, Subramaniam Geetha, Woody George, Vetter Victoria |
|
Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
International journal of legal medicine 2015 Nov . Zhao Qianhao, Chen Yili, Peng Longlun, Gao Rui, Liu Nian, Jiang Pingping, Liu Chao, Tang Shuangbo, Quan Li, Makielski Jonathan C, Cheng Jiandi |
|
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
Revista espanola de cardiologia (English ed.) 2015 Oct . Ripoll-Vera Tomás, Gámez José María, Govea Nancy, Gómez Yolanda, Núñez Juana, Socías Lorenzo, Escandell Ángela, Rosell Jor |
|
Genetic association analyses highlight biological pathways underlying mitral valve prolapse.
Nature genetics 2015 Oct 47 (10): 1206-11. Dina Christian, Bouatia-Naji Nabila, Tucker Nathan, Delling Francesca N, Toomer Katelynn, Durst Ronen, Perrocheau Maelle, Fernandez-Friera Leticia, Solis Jorge, , Le Tourneau Thierry, Chen Ming-Huei, Probst Vincent, Bosse Yohan, Pibarot Philippe, Zelenika Diana, Lathrop Mark, Hercberg Serge, Roussel Ronan, Benjamin Emelia J, Bonnet Fabrice, Lo Su Hao, Dolmatova Elena, Simonet Floriane, Lecointe Simon, Kyndt Florence, Redon Richard, Le Marec Hervé, Froguel Philippe, Ellinor Patrick T, Vasan Ramachandran S, Bruneval Patrick, Markwald Roger R, Norris Russell A, Milan David J, Slaugenhaupt Susan A, Levine Robert A, Schott Jean-Jacques, Hagege Albert A, , Jeunemaitre Xavier, |
|
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 |
|
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.
European journal of human genetics : EJHG 2015 Sep . Hertz Christin Loeth, Christiansen Sofie Lindgren, Larsen Maiken Kudahl, Dahl Morten, Ferrero-Miliani Laura, Weeke Peter Ejvind, Pedersen Oluf, Hansen Torben, Grarup Niels, Ottesen Gyda Lolk, Frank-Hansen Rune, Banner Jytte, Morling Nie |
|
Genetics of inherited arrhythmias in pediatrics.
Current opinion in pediatrics 2015 Sep . Campuzano Oscar, Sarquella-Brugada Georgia, Cesar Sergi, Iglesias Anna, Arbelo Elena, Brugada Josep, Brugada Ram |
|
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
The American journal of cardiology 2015 Jul . Lorenzon Alessandra, Pilichou Kalliopi, Rigato Ilaria, Vazza Giovanni, De Bortoli Marzia, Calore Martina, Occhi Gianluca, Carturan Elisa, Lazzarini Elisabetta, Cason Marco, Mazzotti Elisa, Poloni Giulia, Mostacciuolo Maria Luisa, Daliento Luciano, Thiene Gaetano, Corrado Domenico, Basso Cristina, Bauce Barbara, Rampazzo Alessand |
|
Phenotype and prognostic correlations of the converter region mutations affecting the ? myosin heavy chain.
Heart (British Cardiac Society) 2015 Jul 101 (13): 1047-53. García-Giustiniani Diego, Arad Michael, Ortíz-Genga Martín, Barriales-Villa Roberto, Fernández Xusto, Rodríguez-García Isabel, Mazzanti Andrea, Veira Elena, Maneiro Emilia, Rebolo Paula, Lesende Iván, Cazón Laura, Freimark Dov, Gimeno-Blanes Juan Ramón, Seidman Christine, Seidman Jonathan, McKenna William, Monserrat Loren |
|
Physical and Psychological Consequences of Left Cardiac Sympathetic Denervation for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation. Arrhythmia and electrophysiology 2015 Jul . Waddell-Smith Kathryn E, Ertresvaag Kjetil N, Li Jian, Chaudhuri Krish, Crawford Jackie R, Hamill James K, Haydock David, Skinner Jonathan R, |
|
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Cardiovascular research 2015 Jun 106 (3): 520-9. Behr Elijah R, Savio-Galimberti Eleonora, Barc Julien, Holst Anders G, Petropoulou Evmorfia, Prins Bram P, Jabbari Javad, Torchio Margherita, Berthet Myriam, Mizusawa Yuka, Yang Tao, Nannenberg Eline A, Dagradi Federica, Weeke Peter, Bastiaenan Rachel, Ackerman Michael J, Haunso Stig, Leenhardt Antoine, Kääb Stefan, Probst Vincent, Redon Richard, Sharma Sanjay, Wilde Arthur, Tfelt-Hansen Jacob, Schwartz Peter, Roden Dan M, Bezzina Connie R, Olesen Morten, Darbar Dawood, Guicheney Pascale, Crotti Lia, , Jamshidi Yal |
|
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.
International journal of legal medicine 2015 May 129 (3): 495-504. Partemi Sara, Vidal Monica Coll, Striano Pasquale, Campuzano Oscar, Allegue Catarina, Pezzella Marianna, Elia Maurizio, Parisi Pasquale, Belcastro Vincenzo, Casellato Susanna, Giordano Lucio, Mastrangelo Massimo, Pietrafusa Nicola, Striano Salvatore, Zara Federico, Bianchi Amedeo, Buti Daniela, La Neve Angela, Tassinari Carlo Alberto, Oliva Antonio, Brugada Ram |
|
Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
American journal of medical genetics. Part A 2015 Apr 167A (4): 852-7. Wenger Tara L, Bhoj Elizabeth J, Wetmore Ralph F, Mennuti Michael T, Bartlett Scott P, Mollen Thomas J, McDonald-McGinn Donna M, Zackai Elaine |
|
Genetic markers of repolarization and arrhythmic events after acute coronary syndromes.
American heart journal 2015 Apr 169 (4): 579-86.e3. Earle N J, Poppe K K, Pilbrow A P, Cameron V A, Troughton R W, Skinner J R, Love D R, Shelling A N, Whalley G A, Ellis C J, Richards A M, Doughty R |
|
Neuronal Na+ channel blockade suppresses arrhythmogenic diastolic Ca2+ release.
Cardiovascular research 2015 Apr 106 (1): 143-52. Radwa?ski Przemys?aw B, Brunello Lucia, Veeraraghavan Rengasayee, Ho Hsiang-Ting, Lou Qing, Makara Michael A, Belevych Andriy E, Anghelescu Mircea, Priori Silvia G, Volpe Pompeo, Hund Thomas J, Janssen Paul M L, Mohler Peter J, Bridge John H B, Poelzing Steven, Györke Sánd |
|
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
Journal of medical genetics 2015 Mar . Calore Chiara, De Bortoli Marzia, Romualdi Chiara, Lorenzon Alessandra, Angelini Annalisa, Basso Cristina, Thiene Gaetano, Iliceto Sabino, Rampazzo Alessandra, Melacini Pao |
|
Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression.
JACC. Heart failure 2015 Feb 3 (2): 180-8. Ho Carolyn Y, Lakdawala Neal K, Cirino Allison L, Lipshultz Steven E, Sparks Elizabeth, Abbasi Siddique A, Kwong Raymond Y, Antman Elliott M, Semsarian Christopher, González Arantxa, López Begoña, Diez Javier, Orav E John, Colan Steven D, Seidman Christine |
|
Analysis of SNP (single nucleotide polymorphism) multiplex markers related to sudden cardiac death in Brazilian families.
Genetics and molecular research : GMR 2015 14 (4): 14348. Braganholi D F, Cicarelli R M |
|
Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium.
PloS one 2015 10 (10): e0140496. Bis Joshua C, Sitlani Colleen, Irvin Ryan, Avery Christy L, Smith Albert Vernon, Sun Fangui, Evans Daniel S, Musani Solomon K, Li Xiaohui, Trompet Stella, Krijthe Bouwe P, Harris Tamara B, Quibrera P Miguel, Brody Jennifer A, Demissie Serkalem, Davis Barry R, Wiggins Kerri L, Tranah Gregory J, Lange Leslie A, Sotoodehnia Nona, Stott David J, Franco Oscar H, Launer Lenore J, Stürmer Til, Taylor Kent D, Cupples L Adrienne, Eckfeldt John H, Smith Nicholas L, Liu Yongmei, Wilson James G, Heckbert Susan R, Buckley Brendan M, Ikram M Arfan, Boerwinkle Eric, Chen Yii-Der Ida, de Craen Anton J M, Uitterlinden Andre G, Rotter Jerome I, Ford Ian, Hofman Albert, Sattar Naveed, Slagboom P Eline, Westendorp Rudi G J, Gudnason Vilmundur, Vasan Ramachandran S, Lumley Thomas, Cummings Steven R, Taylor Herman A, Post Wendy, Jukema J Wouter, Stricker Bruno H, Whitsel Eric A, Psaty Bruce M, Arnett Don |
|
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.
PloS one 2015 10 (7): e0130329. Shigemizu Daichi, Aiba Takeshi, Nakagawa Hidewaki, Ozaki Kouichi, Miya Fuyuki, Satake Wataru, Toda Tatsushi, Miyamoto Yoshihiro, Fujimoto Akihiro, Suzuki Yutaka, Kubo Michiaki, Tsunoda Tatsuhiko, Shimizu Wataru, Tanaka Toshihi |
|
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.
PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
|
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.
Scientific reports 2015 5 10009. Steffensen Annette Buur, Refaat Marwan M, David Jens-Peter, Mujezinovic Amer, Calloe Kirstine, Wojciak Julianne, Nussbaum Robert L, Scheinman Melvin M, Schmitt Nico |
|
Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.
International heart journal 2015 56 (4): 450-3. Chang Ya-Sian, Yang Yi-Wen, Lin Yen-Nien, Lin Kuo-Hung, Chang Kuan-Cheng, Chang Jan-Gow |
|
Virus Infections and Sudden Death in Infancy: The Role of Interferon-?.
Frontiers in immunology 2015 6 107. Moscovis Sophia M, Gordon Ann E, Al Madani Osama M, Gleeson Maree, Scott Rodney J, Hall Sharron T, Burns Christine, Blackwell Caroli |
|
Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2014 Dec 16 (12): 1838-46. López-Ayala Jose María, Gómez-Milanés Ivan, Sánchez Muñoz Juan José, Ruiz-Espejo Francisco, Ortíz Martín, González-Carrillo Josefa, López-Cuenca David, Oliva-Sandoval M J, Monserrat Lorenzo, Valdés Mariano, Gimeno Juan |
|
Association between SRC-1 gene polymorphisms and coronary artery aneurysms formation in Taiwanese children with Kawasaki disease.
Journal of clinical laboratory analysis 2014 Nov 28 (6): 435-9. Chen Yng-Tay, Liao Wen-Lin, Lin Ying-Ju, Chen Shih-Yin, Tsai Fuu-J |
|
Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.
The Israel Medical Association journal : IMAJ 2014 Nov 16 (11): 707-13. Arad Michael, Monserrat Lorenzo, Haron-Khun Shiraz, Seidman Jonathan G, Seidman Christine E, Arbustini Eloisa, Glikson Michael, Freimark D |
|
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Molecular diagnosis & therapy 2014 Oct 18 (5): 533-9. Millat Gilles, Chanavat Valérie, Rousson Robe |
|
SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction.
Molecular medicine reports 2014 Oct 10 (4): 2039-44. Boehringer Tim, Bugert Peter, Borggrefe Martin, Elmas El |
|
Angiotensinogen gene variations and LV outflow obstruction in hypertrophic cardiomyopathy.
Herz 2014 Mar 39 (2): 258-63. Wang S, Wang J, Zou Y, Wang J, Wang H, Hui |
|
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
Journal of inherited metabolic disease 2014 Mar 37 (2): 215-22. Rasmussen Jan, Nielsen Olav W, Janzen Nils, Duno Morten, Gislason Hannes, Køber Lars, Steuerwald Ulrike, Lund Allan |
|
Molecular analysis of potassium ion channel genes in sudden death cases among patients administered psychotropic drug therapy: are polymorphisms in LQT genes a potential risk factor?
Journal of human genetics 2014 Feb 59 (2): 95-9. Kamei Sayako, Sato Noriko, Harayama Yuta, Nunotani Miyako, Takatsu Kanae, Shiozaki Tetsuya, Hayashi Tokutaro, Asamura Hide |
|
Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2014 Jan 11 (1): 76-82. Earle Nikki, Yeo Han Dug, Pilbrow Anna, Crawford Jackie, Smith Warren, Shelling Andrew N, Cameron Vicky, Love Donald R, Skinner Jonathan |
|
Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population.
BMC cardiovascular disorders 2014 14 (1): 36. Marsiglia Julia Daher Carneiro, Credidio Flávia Laghi, de Oliveira Théo Gremen Mimary, Reis Rafael Ferreira, Antunes Murillo de Oliveira, de Araujo Aloir Queiroz, Pedrosa Rodrigo Pinto, Barbosa-Ferreira João Marcos Bemfica, Mady Charles, Krieger José Eduardo, Arteaga-Fernandez Edmundo, Pereira Alexandre Cos |
|
Prevalence and prognostic role of various conduction disturbances in patients with the Brugada syndrome.
The American journal of cardiology 2013 Nov 112 (9): 1384-9. Maury Philippe, Rollin Anne, Sacher Frédéric, Gourraud Jean-Baptiste, Raczka Franck, Pasquié Jean-Luc, Duparc Alexandre, Mondoly Pierre, Cardin Christelle, Delay Marc, Derval Nicolas, Chatel Stéphanie, Bongard Vanina, Sadron Marie, Denis Arnaud, Davy Jean-Marc, Hocini Mélèze, Jaïs Pierre, Jesel Laurence, Haïssaguerre Michel, Probst Vince |
|
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
European journal of human genetics : EJHG 2013 Sep 21 (9): 911-7. Sommariva Elena, Pappone Carlo, Martinelli Boneschi Filippo, Di Resta Chiara, Rosaria Carbone Maria, Salvi Erika, Vergara Pasquale, Sala Simone, Cusi Daniele, Ferrari Maurizio, Benedetti Sa |
|
Arrhythmia Phenotype during Fetal Life Suggests LQTS Genotype: Risk Stratification of Perinatal Long QT Syndrome.
Circulation. Arrhythmia and electrophysiology 2013 Aug . Cuneo BF, Etheridge SP, Horigome H, Sallee D, Moon-Grady A, Weng HY, Ackerman MJ, Benson DW |
|
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
Circulation. Cardiovascular genetics 2013 Aug 6 (4): 354-61. Duchatelet Sabine, Crotti Lia, Peat Rachel A, Denjoy Isabelle, Itoh Hideki, Berthet Myriam, Ohno Seiko, Fressart Véronique, Monti Maria Cristina, Crocamo Cristina, Pedrazzini Matteo, Dagradi Federica, Vicentini Alessandro, Klug Didier, Brink Paul A, Goosen Althea, Swan Heikki, Toivonen Lauri, Lahtinen Annukka M, Kontula Kimmo, Shimizu Wataru, Horie Minoru, George Alfred L, Trégouët David-Alexandre, Guicheney Pascale, Schwartz Peter |
|
Interpreting secondary cardiac disease variants in an exome cohort.
Circulation. Cardiovascular genetics 2013 Aug 6 (4): 337-46. Ng David, Johnston Jennifer J, Teer Jamie K, Singh Larry N, Peller Lindsey C, Wynter Jamila S, Lewis Katie L, Cooper David N, Stenson Peter D, Mullikin James C, Biesecker Leslie G, |
|
Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.
Annals of medicine 2013 Jun 45 (4): 328-35. Lahtinen Annukka M, Havulinna Aki S, Noseworthy Peter A, Jula Antti, Karhunen Pekka J, Perola Markus, Newton-Cheh Christopher, Salomaa Veikko, Kontula Kim |
|
Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs?
Heart rhythm : the official journal of the Heart Rhythm Society 2013 Feb 10 (2): 233-8. Earle Nikki, Crawford Jackie, Smith Warren, Hayes Ian, Shelling Andrew, Hood Margaret, Stiles Martin, Maxwell Fraser, Heaven David, Love Donald R, Skinner Jonathan |
|
Analysis of IL-17 gene polymorphisms in Chinese patients with dilated cardiomyopathy.
Human immunology 2013 Jan . Peng Y, Zhou B, Wang YY, Shi S, Zhang K, Zhang L, Rao L |
|
Mutations in the area composita protein ?T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
European heart journal 2013 Jan 34 (3): 201-10. van Hengel Jolanda, Calore Martina, Bauce Barbara, Dazzo Emanuela, Mazzotti Elisa, De Bortoli Marzia, Lorenzon Alessandra, Li Mura Ilena E A, Beffagna Giorgia, Rigato Ilaria, Vleeschouwers Mara, Tyberghein Koen, Hulpiau Paco, van Hamme Evelien, Zaglia Tania, Corrado Domenico, Basso Cristina, Thiene Gaetano, Daliento Luciano, Nava Andrea, van Roy Frans, Rampazzo Alessand |
|
Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese.
Genetic testing and molecular biomarkers 2013 Jan 17 (1): 25-9. Huang Yi, Lian Jiangfang, Huang R Stephanie, Wang Feiming, Xu Limin, Le Yanping, Yang Xi, Xu Weifeng, Huang Xiaoyan, Ye Meng, Zhou Jianqing, Duan Shiw |
|
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
Circulation journal : official journal of the Japanese Circulation Society 2013 77 (7): 1705-13. Kawamura Mihoko, Ohno Seiko, Naiki Nobu, Nagaoka Iori, Dochi Kenichi, Wang Qi, Hasegawa Kanae, Kimura Hiromi, Miyamoto Akashi, Mizusawa Yuka, Itoh Hideki, Makiyama Takeru, Sumitomo Naokata, Ushinohama Hiroya, Oyama Kotaro, Murakoshi Nobuyuki, Aonuma Kazutaka, Horigome Hitoshi, Honda Takafumi, Yoshinaga Masao, Ito Makoto, Horie Mino |
|
L-type calcium channel mutations in Japanese patients with inherited arrhythmias.
Circulation journal : official journal of the Japanese Circulation Society 2013 77 (7): 1799-806. Fukuyama Megumi, Ohno Seiko, Wang Qi, Kimura Hiromi, Makiyama Takeru, Itoh Hideki, Ito Makoto, Horie Mino |
|
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.
Vascular medicine (London, England) 2012 Dec 17 (6): 371-8. Poloskey Stacey L, Kim Esther Sh, Sanghani Ruchi, Al-Quthami Adeeb H, Arscott Patricia, Moran Rocio, Rigelsky Christina M, Gornik Heather |
|
Age-dependent interaction of apolipoprotein E gene with eastern birthplace in Finland affects severity of coronary atherosclerosis and risk of fatal myocardial infarction-Helsinki Sudden Death Study.
Annals of medicine 2012 Oct . Tyynelä P, Goebeler S, Ilveskoski E, Mikkelsson J, Perola M, Lehtimäki T, Karhunen PJ |
|
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
Circulation 2012 Sep 126 (12): 1469-77. Baruteau Alban-Elouen, Behaghel Albin, Fouchard Swanny, Mabo Philippe, Schott Jean-Jacques, Dina Christian, Chatel Stéphanie, Villain Elisabeth, Thambo Jean-Benoit, Marçon François, Gournay Véronique, Rouault Francis, Chantepie Alain, Guillaumont Sophie, Godart François, Martins Raphaël P, Delasalle Béatrice, Bonnet Caroline, Fraisse Alain, Schleich Jean-Marc, Lusson Jean-René, Dulac Yves, Daubert Jean-Claude, Le Marec Hervé, Probst Vince |
|
Stress Proneness in Molecularly Defined Long QT Syndrome: A Study Using Temperament Assessment by Behavioural Inhibition System Scale.
Stress and health : journal of the International Society for the Investigation of Stress 2012 Aug . Määttänen I, Keltikangas-Järvinen L, Swan H, Toivonen L, Kontula K, Hintsanen M, Alatupa S, Hintsa T |
|
Allelic variations in superoxide dismutase-1 (SOD1) gene and renal and cardiovascular morbidity and mortality in type 2 diabetic subjects.
Molecular genetics and metabolism 2012 Jul 106 (3): 359-65. Neves Ana Luísa, Mohammedi Kamel, Emery Nathalie, Roussel Ronan, Fumeron Frédéric, Marre Michel, Velho Gilber |
|
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
Human mutation 2012 Feb . Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ |
|
Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.
Circulation 2012 Jan 125 (3): 474-81. Van Norstrand David W, Asimaki Angeliki, Rubinos Clio, Dolmatova Elena, Srinivas Miduturu, Tester David J, Saffitz Jeffrey E, Duffy Heather S, Ackerman Michael |
|
Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease.
Korean journal of pediatrics 2012 Jan 55 (1): 18-23. Choi Yu Mi, Shim Kye Sik, Yoon Kyung Lim, Han Mi Young, Cha Sung Ho, Kim Su Kang, Jung Joo |
|
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
BMC medical genetics 2012 13 105. Teirlinck Carolien H, Senni Faïza, Malti Rajae El, Majoor-Krakauer Danielle, Fellmann Florence, Millat Gilles, André-Fouët Xavier, Pernot François, Stumpf Michaël, Boutarin Jean, Bouvagnet Patri |
|
Common genetic variants associated with sudden cardiac death: the FinSCDgen study.
PloS one 2012 7 (7): e41675. Lahtinen Annukka M, Noseworthy Peter A, Havulinna Aki S, Jula Antti, Karhunen Pekka J, Kettunen Johannes, Perola Markus, Kontula Kimmo, Newton-Cheh Christopher, Salomaa Veik |
|
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
BMC cardiovascular disorders 2012 12 (1): 95. Stattin Eva-Lena, Boström Ida Maria, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg An |
|
A pilot study of host genetic variants associated with influenza-associated deaths among children and young adults.
Emerging infectious diseases 2011 Dec 17 (12): 2294-302. Ferdinands Jill M, Denison Amy M, Dowling Nicole F, Jost Heather A, Gwinn Marta L, Liu Lindy, Zaki Sherif R, Shay David |
|
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
Human mutation 2011 Dec 32 (12): 1481-91. Arimura Takuro, Ishikawa Taisuke, Nunoda Shinichi, Kawai Sachio, Kimura Akino |
|
Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.
Circulation. Cardiovascular genetics 2011 Aug 4 (4): 397-402. Westaway Shawn K, Reinier Kyndaron, Huertas-Vazquez Adriana, Evanado Audrey, Teodorescu Carmen, Navarro Jo, Sinner Moritz F, Gunson Karen, Jui Jonathan, Spooner Peter, Kaab Stefan, Chugh Sumeet |
|
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2011 Jul 8 (7): 1024-32. Giudicessi John R, Ye Dan, Tester David J, Crotti Lia, Mugione Alessandra, Nesterenko Vladislav V, Albertson Richard M, Antzelevitch Charles, Schwartz Peter J, Ackerman Michael |
|
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
Science translational medicine 2011 Mar 3 (76): 76ra28. Jons Christian, O-Uchi Jin, Moss Arthur J, Reumann Matthias, Rice John J, Goldenberg Ilan, Zareba Wojciech, Wilde Arthur A M, Shimizu Wataru, Kanters Jorgen K, McNitt Scott, Hofman Nynke, Robinson Jennifer L, Lopes Coeli M |
|
Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome.
Frontiers of medicine in China 2007 Jul 1 (3): 312-5. Du Rong, Tian Li, Yuan Guohui, Li Jin, Ren Faxin, Gui Le, Li Wei, Zhang Shouyan, Kang Cailian, Yang Jung |
- Page last reviewed:Oct 1, 2020
- Page last updated:Oct 14, 2020
- Content source: