Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 88 Records) |
Query Trace: DSP[original query] |
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Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features. The Canadian journal of cardiology 2021 Sep . Wu Guixin, Liu Jie, Ruan Jieyun, Yu Shiqin, Wang Limei, Zhao Shihua, Wang Shuiyun, Kang Lianming, Wang Jizheng, Song L |
The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia: insights from the European Survey on Arrhythmogenic Cardiomyopathy. 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 2021 9 24 (2): 285-295. Belhassen Bernard, Laredo Mikael, Roudijk Rob W, Peretto Giovanni, Zahavi Guy, Sen-Chowdhry Srijita, Badenco Nicolas, Te Riele Anneline S J M, Sala Simone, Duthoit Guillaume, van Tintelen J Peter, Paglino Gabriele, Sellal Jean-Marc, Gasperetti Alessio, Arbelo Elena, Andorin Antoine, Ninni Sandro, Rollin Anne, Peichl Petr, Waintraub Xavier, Bosman Laurens P, Pierre Bertrand, Nof Eyal, Miles Chris, Tfelt-Hansen Jacob, Protonotarios Alexandros, Giustetto Carla, Sacher Frederic, Hermida Jean-Sylvain, Havranek Stepan, Calo Leonardo, Casado-Arroyo Ruben, Conte Giulio, Letsas Konstantinos P, Zorio Esther, Bermúdez-Jiménez Francisco J, Behr Elijah R, Beinart Roy, Fauchier Laurent, Kautzner Josef, Maury Philippe, Lacroix Dominique, Probst Vincent, Brugada Josep, Duru Firat, de Chillou Christian, Bella Paolo Della, Gandjbakhch Estelle, Hauer Richard, Milman An |
Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome. Frontiers in medicine 2021 9 8 725144. Guzmán-Vargas Javier, Ambrocio-Ortiz Enrique, Pérez-Rubio Gloria, Ponce-Gallegos Marco Antonio, Hernández-Zenteno Rafael de Jesus, Mejía Mayra, Ramírez-Venegas Alejandra, Buendia-Roldan Ivette, Falfán-Valencia Ramc |
Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure. ESC heart failure 2021 9 8 (6): 5178-5191. Saito Tsunenori, Sato Naoko Saito, Mozawa Kosuke, Adachi Akiko, Sasaki Yoshihiro, Nakamura Kotoka, Oka Eiichiro, Otsuka Toshiaki, Kodani Eitaro, Asai Kuniya, Mizuno Kyoichi, Shimizu Wataru, Gottlieb Roberta |
Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. Circulation 2021 9 144 (20): 1600-1611. Gigli Marta, Stolfo Davide, Graw Sharon L, Merlo Marco, Gregorio Caterina, Nee Chen Suet, Dal Ferro Matteo, PaldinoMD Alessia, De Angelis Giulia, Brun Francesca, Jirikowic Jean, Salcedo Ernesto E, Turja Sylvia, Fatkin Diane, Johnson Renee, van Tintelen J Peter, Te Riele Anneline S J M, Wilde Arthur A M, Lakdawala Neal K, Picard Kermshlise, Miani Daniela, Muser Daniele, Maria Severini Giovanni, Calkins Hugh, James Cynthia A, Murray Brittney, Tichnell Crystal, Parikh Victoria N, Ashley Euan A, Reuter Chloe, Song Jiangping, Judge Daniel P, McKenna William J, Taylor Matthew R G, Sinagra Gianfranco, Mestroni Lui |
DSP rs2076295 variants influence nintedanib and pirfenidone outcomes in idiopathic pulmonary fibrosis: a pilot study. Therapeutic advances in respiratory disease 0 15 17534666211042529. Doubkova Martina, Kriegova Eva, Littnerova Simona, Schneiderova Petra, Sterclova Martina, Bartos Vladimir, Plackova Martina, Zurkova Monika, Bittenglova Radka, Lostaková Vladimira, Siskova Lenka, Lisa Pavlina, Suldova Hana, Doubek Michael, Psikalova Jana, Snizek Tomas, Musilova Pavlina, Vasakova Marti |
Myopathic Cardiac Genotypes Increase Risk for Myocarditis. JACC. Basic to translational science 2021 Jul 6 (7): 584-592. Kontorovich Amy R, Patel Nihir, Moscati Arden, Richter Felix, Peter Inga, Purevjav Enkhsaikhan, Selejan Simina Ramona, Kindermann Ingrid, Towbin Jeffrey A, Bohm Michael, Klingel Karin, Gelb Bruce |
Clinical characteristics and risk stratification of desmoplakin cardiomyopathy. 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 2021 8 24 (2): 268-277. Wang Weijia, Murray Brittney, Tichnell Crystal, Gilotra Nisha A, Zimmerman Stefan L, Gasperetti Alessio, Scheel Paul, Tandri Harikrishna, Calkins Hugh, James Cynthia |
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure. Journal of medical genetics 2021 8 59 (9): 858-864. Christensen Alex Hørby, Platonov Pyotr G, Jensen Henrik Kjærulf, Chivulescu Monica, Svensson Anneli, Dahlberg Pia, Madsen Trine, Frederiksen Tanja Charlotte, Heliö Tiina, Lie Øyvind Haugen, Haugaa Kristina H, Hastrup Svendsen Jesper, Bundgaard Henni |
Increased Cancer Prevalence in Peripartum Cardiomyopathy. JACC. CardioOncology 2021 8 1 (2): 196-205. Pfeffer Tobias J, Schlothauer Stella, Pietzsch Stefan, Schaufelberger Maria, Auber Bernd, Ricke-Hoch Melanie, List Manuel, Berliner Dominik, Abou Moulig Valeska, König Tobias, Arany Zolt, Sliwa Karen, Bauersachs Johann, Hilfiker-Kleiner Deni |
Socioeconomic deprivation and genetic ancestry interact to modify type 2 diabetes ethnic disparities in the United Kingdom. EClinicalMedicine 2021 Jul 37 100960. Nagar Shashwat Deepali, Nápoles Anna María, Jordan I King, Mariño-Ramírez Leonar |
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. Nature communications 2021 11 12 (1): 6795. Shoda Tetsuo, Kaufman Kenneth M, Wen Ting, Caldwell Julie M, Osswald Garrett A, Purnima Pathre, Zimmermann Nives, Collins Margaret H, Rehn Kira, Foote Heather, Eby Michael D, Zhang Wenying, Ben-Baruch Morgenstern Netali, Ballaban Adina Y, Habel Jeff E, Kottyan Leah C, Abonia J Pablo, Mukkada Vincent A, Putnam Philip E, Martin Lisa J, Rothenberg Marc |
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy. Circulation 2022 9 146 (15): 1123-1134. Lota Amrit S, Hazebroek Mark R, Theotokis Pantazis, Wassall Rebecca, Salmi Sara, Halliday Brian P, Tayal Upasana, Verdonschot Job, Meena Devendra, Owen Ruth, de Marvao Antonio, Iacob Alma, Yazdani Momina, Hammersley Daniel J, Jones Richard E, Wage Riccardo, Buchan Rachel, Vivian Fredrik, Hafouda Yakeen, Noseda Michela, Gregson John, Mittal Tarun, Wong Joyce, Robertus Jan Lukas, Baksi A John, Vassiliou Vassilios, Tzoulaki Ioanna, Pantazis Antonis, Cleland John G F, Barton Paul J R, Cook Stuart A, Pennell Dudley J, Garcia-Pavia Pablo, Cooper Leslie T, Heymans Stephane, Ware James S, Prasad Sanjay |
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes. Journal of the American Heart Association 2022 Sep e025257. Yang Qixin, Berkman Amy M, Ezekian Jordan E, Rosamilia Michael, Rosenfeld Jill A, Liu Pengfei, Landstrom Andrew |
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management. Human mutation 2022 7 43 (9): 1333-1342. Goudal Adeline, Karakachoff Matilde, Lindenbaum Pierre, Baron Estelle, Bonnaud Stéphanie, Kyndt Florence, Arnaud Marine, Minois Damien, Bourcereau Emmanuelle, Thollet Aurélie, Deleuze Jean-François, Genin Emmanuelle, Wiart François, Pasquié Jean-Luc, Galand Vincent, Sacher Frédéric, Dina Christian, Redon Richard, Bezieau Stéphane, Schott Jean-Jacques, Probst Vincent, Barc Juli |
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator. European heart journal 2022 6 43 (32): 3053-3067. Protonotarios Alexandros, Bariani Riccardo, Cappelletto Chiara, Pavlou Menelaos, García-García Alba, Cipriani Alberto, Protonotarios Ioannis, Rivas Adrian, Wittenberg Regitze, Graziosi Maddalena, Xylouri Zafeirenia, Larrañaga-Moreira José M, de Luca Antonio, Celeghin Rudy, Pilichou Kalliopi, Bakalakos Athanasios, Lopes Luis Rocha, Savvatis Konstantinos, Stolfo Davide, Dal Ferro Matteo, Merlo Marco, Basso Cristina, Freire Javier Limeres, Rodriguez-Palomares Jose F, Kubo Toru, Ripoll-Vera Tomas, Barriales-Villa Roberto, Antoniades Loizos, Mogensen Jens, Garcia-Pavia Pablo, Wahbi Karim, Biagini Elena, Anastasakis Aris, Tsatsopoulou Adalena, Zorio Esther, Gimeno Juan R, Garcia-Pinilla Jose Manuel, Syrris Petros, Sinagra Gianfranco, Bauce Barbara, Elliott Perry |
Fibroblast growth factor receptor 3 gene (FGFR3) mutations in high-grade muscle-invasive urothelial bladder cancer in a Brazilian population: evaluation and prevalence. Einstein (Sao Paulo, Brazil) 2022 4 20 eAO6450. Monteiro Camila Ribeiro de Arruda, Korkes Fernando, Krutman-Zveibil Deborah, Glina Sidn |
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study. Genetics in medicine : official journal of the American College of Medical Genetics 2022 4 24 (7): 1495-1502. Trachtenberg Barry H, Jimenez Javier, Morris Alanna A, Kransdorf Evan, Owens Anjali, Fishbein Daniel P, Jordan Elizabeth, Kinnamon Daniel D, Mead Jonathan O, Huggins Gordon S, Hershberger Ray E, |
Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A single-center cohort study. Anatolian journal of cardiology 2022 02 26 (2): 133-140. Ba?tu? Serdal, Çavdarl? Bü?ranur, Ba?tu? Aliye, ?encan ?rfan, Tunçez Ebru, Yak???k Çak?r Esra, Kemirtlek Nizamettin, Sakar Cihad, Erdem Deniz, Güleç Ceylan Gülay, Özkoçak Turan I??l, Kazanc?o?lu Sümeyye, Bodur Hürr |
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. Circulation. Genomic and precision medicine 2022 12 16 (1): e003672. Hoorntje Edgar T, Burns Charlotte, Marsili Luisa, Corden Ben, Parikh Victoria N, Te Meerman Gerard J, Gray Belinda, Adiyaman Ahmet, Bagnall Richard D, Barge-Schaapveld Daniela Q C M, van den Berg Maarten P, Bootsma Marianne, Bosman Laurens P, Correnti Gemma, Duflou Johan, Eppinga Ruben N, Fatkin Diane, Fietz Michael, Haan Eric, Jongbloed Jan D H, Hauer Arnaud D, Lam Lien, van Lint Freyja H M, Lota Amrit, Marcelis Carlo, McCarthy Hugh J, van Mil Anneke M, Oldenburg Rogier A, Pachter Nicholas, Planken R Nils, Reuter Chloe, Semsarian Christopher, van der Smagt Jasper J, Thompson Tina, Vohra Jitendra, Volders Paul G A, van Waning Jaap I, Whiffin Nicola, van den Wijngaard Arthur, Amin Ahmad S, Wilde Arthur A M, van Woerden Gijs, Yeates Laura, Zentner Dominica, Ashley Euan A, Wheeler Matthew T, Ware James S, van Tintelen J Peter, Ingles Jod |
Desmoplakin cardiomyopathy-an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2022 11 . Schoonvelde S A C, Hirsch A, Yap S C, Verhagen J M A, van Slegtenhorst M A, Segers D, van Loon J E, Michels |
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies. Journal of the American College of Cardiology 2022 11 80 (21): 1981-1994. Paldino Alessia, Dal Ferro Matteo, Stolfo Davide, Gandin Ilaria, Medo Kristen, Graw Sharon, Gigli Marta, Gagno Giulia, Zaffalon Denise, Castrichini Matteo, Masè Marco, Cannatà Antonio, Brun Francesca, Storm Garrett, Severini Giovanni Maria, Lenarduzzi Stefania, Girotto Giorgia, Gasparini Paolo, Bortolotti Francesca, Giacca Mauro, Zacchigna Serena, Merlo Marco, Taylor Matthew R G, Mestroni Luisa, Sinagra Gianfran |
Genetic variants in Colombian patients with inherited cardiac conditions. Molecular genetics & genomic medicine 2022 10 10 (11): e2046. Rucinski Cynthia, Yunis Luz Karime, Rosas Fernando, Santacruz David, Camargo Juan Manuel, Yunis Juan Jo |
Common idiopathic pulmonary fibrosis risk variants are associated with hypersensitivity pneumonitis. Thorax 2022 1 77 (5): 508-510. Furusawa Haruhiko, Peljto Anna L, Walts Avram D, Cardwell Jonathan, Molyneaux Philip L, Lee Joyce S, Fernández Pérez Evans R, Wolters Paul J, Yang Ivana V, Schwartz David |
Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP). Cardiogenetics 2022 Mar 12 (1): 24-36. Reza Nosheen, de Feria Alejandro, Chowns Jessica L, Hoffman-Andrews Lily, Vann Laura, Kim Jessica, Marzolf Amy, Owens Anjali Ti |
Late gadolinium enhancement distribution patterns in non-ischemic dilated cardiomyopathy: Genotype-phenotype correlation. European heart journal. Cardiovascular Imaging 2023 8 . Fernando de Frutos, Juan Pablo Ochoa, Ana Isabel Fernández, María Gallego-Delgado, Marina Navarro-Peñalver, Guillem Casas, María Teresa Basurte, José María Larrañaga-Moreira, María Victoria Mogollón, Ainhoa Robles-Mezcua, Pablo Elpidio García-Granja, Vicente Climent, Julián Palomino-Doza, Ana García-Álvarez, María Brion, Ramón Brugada, Juan Jiménez-Jáimez, Antoni Bayes-Genis, Tomas Ripoll-Vera, María Luisa Peña-Peña, José F Rodríguez-Palomares, Josefa Gonzalez-Carrillo, Eduardo Villacorta, Maria Angeles Espinosa, Pablo Garcia-Pavia, Jesus G Mirel |
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 |
Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis. Nature communications 2023 6 14 (1): 3671. Go Sato, Yuya Shirai, Shinichi Namba, Ryuya Edahiro, Kyuto Sonehara, Tsuyoshi Hata, Mamoru Uemura, , Koichi Matsuda, Yuichiro Doki, Hidetoshi Eguchi, Yukinori Oka |
Mapping the genetic architecture of idiopathic pulmonary fibrosis: Meta-analysis and epidemiological evidence of case-control studies. Gene 2023 11 147993. Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukre |
Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation. 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 25 (11): . Joo Hee Jeong, Yun Gi Kim, Suk-Kyu Oh, Hyoung Seok Lee, Yun Young Choi, Kyongjin Min, Jaemin Shim, Yae Min Park, Jun-Hyung Kim, Yong-Seog Oh, Nam-Ho Kim, Hui-Nam Pak, Young Keun On, Hyung Wook Park, Gyo-Seung Hwang, Dae-Kyeong Kim, Young-Ah Park, Hyoung-Seob Park, Yongkeun Cho, Seil Oh, Jong-Il Choi, Young-Hoon K |
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- Page last updated:Apr 22, 2024
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