Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 52 Records) |
Query Trace: PLN[original query] |
---|
Influence of Genotype on Structural Atrial Abnormalities and Atrial Fibrillation or Flutter in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Journal of cardiovascular electrophysiology 2016 Aug . Bourfiss Mimount, Te Riele Anneline S J M, Mast Thomas P, Cramer Maarten J, VAN DER Heijden Jeroen F, VAN Veen Toon A B, Loh Peter, Dooijes Dennis, Hauer Richard N W, Velthuis Birgitta |
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies. Scientific reports 2016 6 22235. Fish Maryam, Shaboodien Gasnat, Kraus Sarah, Sliwa Karen, Seidman Christine E, Burke Michael A, Crotti Lia, Schwartz Peter J, Mayosi Bongani |
Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations. Heart rhythm 2016 Dec . Avery Christy L, Wassel Christina L, Richard Melissa A, Highland Heather M, Bien Stephanie, Zubair Niha, Soliman Elsayed Z, Fornage Myriam, Bielinski Suzette J, Tao Ran, Seyerle Amanda A, Shah Sanjiv J, Lloyd-Jones Donald M, Buyske Steven, Rotter Jerome I, Post Wendy S, Rich Stephen S, Hindorff Lucia A, Jeff Janina M, Shohet Ralph V, Sotoodehnia Nona, Lin Dan Yu, Whitsel Eric A, Peters Ulrike, Haiman Christopher A, Crawford Dana C, Kooperberg Charles, North Kari |
Sudden Cardiac Arrest and Rare Genetic Variants in the Community. Circulation. Cardiovascular genetics 2016 Jan . Milano Annalisa, Blom Marieke T, Lodder Elisabeth M, van Hoeijen Daniel A, Barc Julien, Koopmann Tamara T, Bardai Abdennasser, Beekman Leander, Lichtner Peter, van den Berg Maarten P, Wilde Arthur A M, Bezzina Connie R, Tan Hanno |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
Effect of GWAS-Identified Genetic Variants on Maximum QT Interval in Patients With Schizophrenia Receiving Antipsychotic Agents: A 24-Hour Holter ECG Study. Journal of clinical psychopharmacology 2017 Jun . Watanabe Junzo, Fukui Naoki, Suzuki Yutaro, Sugai Takuro, Ono Shin, Tsuneyama Nobuto, Saito Mami, Tajiri Misuzu, Someya Toshiyu |
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PloS one 2017 12 12 (12): e0189489. Klauke Baerbel, Gaertner-Rommel Anna, Schulz Uwe, Kassner Astrid, Zu Knyphausen Edzard, Laser Thorsten, Kececioglu Deniz, Paluszkiewicz Lech, Blanz Ute, Sandica Eugen, van den Bogaerdt Antoon J, van Tintelen J Peter, Gummert Jan, Milting Hendr |
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. Scientific reports 2018 7 8 (1): 10846. Mak Timothy Shin Heng, Lee Yee-Ki, Tang Clara S, Hai JoJo S H, Ran Xinru, Sham Pak-Chung, Tse Hung-F |
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 |
Prevalence and cardiac phenotype of patients with a phospholamban mutation. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2018 12 27 (2): 64-69. Hof I E, van der Heijden J F, Kranias E G, Sanoudou D, de Boer R A, van Tintelen J P, van der Zwaag P A, Doevendans P |
Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases. Circulation. Genomic and precision medicine 2018 10 11 (10): e001797. Nannenberg Eline A, van Rijsingen Ingrid A W, van der Zwaag Paul A, van den Berg Maarten P, van Tintelen J Peter, Tanck Michael W T, Ackerman Michael J, Wilde Arthur A M, Christiaans Im |
The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function.
Molecular psychiatry 2019 Jun . Ward Joey, Tunbridge Elizabeth M, Sandor Cynthia, Lyall Laura M, Ferguson Amy, Strawbridge Rona J, Lyall Donald M, Cullen Breda, Graham Nicholas, Johnston Keira J A, Webber Caleb, Escott-Price Valentina, O'Donovan Michael, Pell Jill P, Bailey Mark E S, Harrison Paul J, Smith Daniel |
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.
European journal of human genetics : EJHG 2019 Jan . van Setten Jessica, Verweij Niek, Mbarek Hamdi, Niemeijer Maartje N, Trompet Stella, Arking Dan E, Brody Jennifer A, Gandin Ilaria, Grarup Niels, Hall Leanne M, Hemerich Daiane, Lyytikäinen Leo-Pekka, Mei Hao, Müller-Nurasyid Martina, Prins Bram P, Robino Antonietta, Smith Albert V, Warren Helen R, Asselbergs Folkert W, Boomsma Dorret I, Caulfield Mark J, Eijgelsheim Mark, Ford Ian, Hansen Torben, Harris Tamara B, Heckbert Susan R, Hottenga Jouke-Jan, Iorio Annamaria, Kors Jan A, Linneberg Allan, MacFarlane Peter W, Meitinger Thomas, Nelson Christopher P, Raitakari Olli T, Silva Aldana Claudia T, Sinagra Gianfranco, Sinner Moritz, Soliman Elsayed Z, Stoll Monika, Uitterlinden Andre, van Duijn Cornelia M, Waldenberger Melanie, Alonso Alvaro, Gasparini Paolo, Gudnason Vilmundur, Jamshidi Yalda, Kääb Stefan, Kanters Jørgen K, Lehtimäki Terho, Munroe Patricia B, Peters Annette, Samani Nilesh J, Sotoodehnia Nona, Ulivi Sheila, Wilson James G, de Geus Eco J C, Jukema J Wouter, Stricker Bruno, van der Harst Pim, de Bakker Paul I W, Isaacs Aar |
A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode. International journal of cardiology 2019 1 279 122-125. Li Zongzhe, Chen Peng, Xu Jinchao, Yu Bo, Li Xianqing, Wang Dao Wu, Wang Dao W |
Prevalence and Prognostic Impact of Pathogenic Variants in Patients With Dilated Cardiomyopathy Referred for Ventricular Tachycardia Ablation. JACC. Clinical electrophysiology 2020 9 6 (9): 1103-1114. Ebert Micaela, Wijnmaalen Adrianus P, de Riva Marta, Trines Serge A, Androulakis Alexander F A, Glashan Claire A, Schalij Martin J, Peter van Tintelen J, Jongbloed Jan D H, Zeppenfeld Kat |
Predicting sustained ventricular arrhythmias in dilated cardiomyopathy: a meta-analysis and systematic review. ESC heart failure 2020 4 7 (4): 1430-1441. Sammani Arjan, Kayvanpour Elham, Bosman Laurens P, Sedaghat-Hamedani Farbod, Proctor Tanja, Gi Weng-Tein, Broezel Alicia, Jensen Katrin, Katus Hugo A, Te Riele Anneline S J M, Meder Benjamin, Asselbergs Folkert |
Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms. JACC. Cardiovascular imaging 2020 11 14 (5): 885-896. Taha Karim, Te Rijdt Wouter P, Verstraelen Tom E, Cramer Maarten J, de Boer Rudolf A, de Bruin-Bon Rianne H A C M, Bouma Berto J, Asselbergs Folkert W, Wilde Arthur A M, van den Berg Maarten P, Teske Arco |
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. Frontiers in cardiovascular medicine 2021 6 8 635141. Leone Maria Pia, Palumbo Pietro, Saenen Johan, Mastroianno Sandra, Castellana Stefano, Amico Cesare, Mazza Tommaso, Potenza Domenico Rosario, Petracca Antonio, Castori Marco, Carella Massimo, Di Stolfo Giusep |
Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST). Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2021 Jun . Te Rijdt W P, Hoorntje E T, de Brouwer R, Oomen A, Amin A, van der Heijden J F, Karper J C, Westenbrink B D, Silljé H H W, Te Riele A S J M, Wiesfeld A C P, van Gelder I C, Willems T P, van der Zwaag P A, van Tintelen J P, Hillege J H, Tan H L, van Veldhuisen D J, Asselbergs F W, de Boer R A, Wilde A A M, van den Berg M |
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2021 5 85 (9): 1469-1478. Nguyen Thuy Vy, Tran Vu Minh Thu, Do Thi Nam Phuong, Tran Thi Huynh Nga, Do Thi Hao, Nguyen Thi My Hanh, Tran Huynh Bao Nam, Le Lan Anh, Nguyen Pham Ngoc Thieu, Nguyen Thi Dieu Ai, Nguyen Thi My Nuong, Le Ngoc Hong Phuong, Pham Nguyen Vinh, Ho Huynh Thuy Duo |
Association between single nucleotide polymorphisms of VEGF gene and pelvic lymph node metastasis in patients with early-stage cervical cancer. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2021 Oct 1-5. Zhong Wei, Guo Xingyan, He Yan, Yasen Maimaiti, Adilai Maimaitimin, Abudubari Hailiqiemu, Abudukadier Abuduhelili, Alifu Xiafukai |
Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study. Annals of translational medicine 2022 3 10 (3): 129. Shen Cheng, Xu Lei, Sun Xiaoning, Sun Aijun, Ge Jun |
Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy. International journal of cardiology 2023 7 131173. Raquel Neves, Andrew S Tseng, Ramin Garmany, Angela L Fink, Christopher J McLeod, Leslie T Cooper, Ciorsti J MacIntyre, Andrew C Homb, Andrew N Rosenbaum, John P Bois, Omar F Abou Ezzeddine, Konstantinos C Siontis, Naveen L Pereira, Michael J Ackerman, John R Giudices |
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2023 7 . Freyja H M van Lint, Fahima Hassanzada, Tom E Verstraelen, Weijia Wang, Laurens P Bosman, Paul A van der Zwaag, Toon Oomen, Hugh Calkins, Brittney Murray, Crystal Tichnell, Thais M A Beuren, Folkert W Asselbergs, Arjan Houweling, Maarten P van den Berg, Arthur A M Wilde, Cynthia A James, J Peter van Tintel |
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview. 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 2023 11 . Lisa M Verheul, Martijn H van der Ree, Sanne A Groeneveld, Bart A Mulder, Imke Christiaans, Gijs F L Kapel, Marco Alings, Marianne Bootsma, Daniela Q C M Barge-Schaapveld, Jippe C Balt, Sing-Chien Yap, Ingrid P C Krapels, Rachel M A Ter Bekke, Paul G A Volders, Saskia N van der Crabben, Pieter G Postema, Arthur A M Wilde, Dennis Dooijes, Annette F Baas, Rutger J Hassi |
Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. International journal of molecular sciences 2023 11 24 (21): . Stephanie M van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands Acm/Pln Registry, Robert F Ernst, Cynthia A James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M Saguner, Firat Duru, Patrick T Ellinor, Connie R Bezzina, Sean J Jurgens, J Peter van Tintelen, Toon A B van Ve |
Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. Scientific reports 2023 10 13 (1): 16769. Ishani Mhatre, Habiba Abdelhalim, William Degroat, Shreya Ashok, Bruce T Liang, Zeeshan Ahm |
Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers. Journal of cardiovascular translational research 2023 1 . Lopera-Maya Esteban A, Li Shuang, de Brouwer Remco, Nolte Ilja M, van Breen Justin, , , Jongbloed Jan D H, Swertz Morris A, Snieder Harold, Franke Lude, Wijmenga Cisca, de Boer Rudolf A, Deelen Patrick, van der Zwaag Paul A, Sanna Sere |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: