Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Cardiomyopathies and LMNA[original query] |
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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 |
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. Hong Kong medical journal = Xianggang yi xue za zhi 2018 3 24 (4): 340-349. Mak C M, Chen S Pl, Mok N S, Siu W K, Lee H Hc, Ching C K, Tsui P T, Fong N C, Yuen Y P, Poon W T, Law C Y, Chong Y K, Chan Y W, Yung T C, Fan K Yy, Lam C |
Genetic Basis and Genotype-Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy. Scientific reports 2020 2 10 (1): 2226. Zhang Xin-Lin, Xie Jun, Lan Rong-Fang, Kang Li-Na, Wang Lian, Xu Wei, Xu Bi |
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases. Cardiovascular research 2020 1 116 (13): 2116-2130. Hayashi Kenshi, Teramoto Ryota, Nomura Akihiro, Asano Yoshihiro, Beerens Manu, Kurata Yasutaka, Kobayashi Isao, Fujino Noboru, Furusho Hiroshi, Sakata Kenji, Onoue Kenji, Chiang David Y, Kiviniemi Tuomas O, Buys Eva, Sips Patrick, Burch Micah L, Zhao Yanbin, Kelly Amy E, Namura Masanobu, Kita Yoshihito, Tsuchiya Taketsugu, Kaku Bunji, Oe Kotaro, Takeda Yuko, Konno Tetsuo, Inoue Masaru, Fujita Takashi, Kato Takeshi, Funada Akira, Tada Hayato, Hodatsu Akihiko, Nakanishi Chiaki, Sakamoto Yuichiro, Tsuda Toyonobu, Nagata Yoji, Tanaka Yoshihiro, Okada Hirofumi, Usuda Keisuke, Cui Shihe, Saito Yoshihiko, MacRae Calum A, Takashima Seiji, Yamagishi Masakazu, Kawashiri Masa-Aki, Takamura Masayu |
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 |
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics. Circulation. Genomic and precision medicine 2022 9 15 (5): e003675. Nafissi Navid A, Abdulrahim Jawan W, Kwee Lydia Coulter, Coniglio Amanda C, Kraus William E, Piccini Jonathan P, Daubert James P, Sun Albert Y, Shah Svati |
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
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 |
Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum. medRxiv : the preprint server for health sciences 2023 7 . David S M Lee, John S DePaolo, Krishna G Aragam, Kiran Biddinger, Mitchell Conery, Ozan Dilitikas, Lily Hoffman-Andrews, Renae L Judy, Atlas Khan, Iftikhar Kulo, Mugan J Puckelwartz, Nosheen Reza, Benjamin A Satterfield, Pankhuri Singhal, , Zoltan P Arany, Thomas P Cappola, Eric Carruth, Sharlene M Day, Ron Do, Christopher M Haggarty, Jacob Joseph, Elizabeth McNally, Girish Nadkarni, Anjali T Owens, Daniel J Rader, Marylyn D Ritchie, Yan Sun, Benjamin F Voight, Michael G Levin, Scott M Damrau |
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- Page last updated:Mar 25, 2024
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