Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1638 Records) |
| Query Trace: Cardiomyopathy[original query] |
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| Mutational single nucleotide polymorphism rs198389 and demethylation promoted natriuretic peptide B gene transcription in heart failure caused by dilated cardiomyopathy. Genes & diseases 2024 12 12 (2): 101345. Yulong Li, Mingzhi Shen, Ting Yang, Shui Yu, Jianyuan Yin, Leiming Luo, Yali Zhao, Ping Ping, Shihui |
| Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant. Molecular syndromology 2024 12 15 (6): 517-522. Yasmina Rahmuni, Youssef El Kadiri, Jaber Lyahyai, Nezha Birouk, Mounir Nesnassi, Abdelaziz Sefiani, Ilham Rat |
| An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy. Human genomics 2024 12 18 (1): 136. Luis R Lopes, William L Macken, Seth Du Preez, Huafrin Kotwal, Konstantinos Savvatis, Neha Sekhri, Saidi A Mohiddin, Renata Kabiljo, Robert D S Pitceath |
| Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic. ESC heart failure 2024 12 . Chandu Sadasivan, Luke R Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y M Chan, D Ian Paterson, Finlay A McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y Oud |
| Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry. Journal of molecular medicine (Berlin, Germany) 2024 12 . Hui-Qi Qu, Matthew S Delfiner, Chethan Gangireddy, Anjali Vaidya, Kenny Nguyen, Isaac R Whitman, JuFang Wang, Jianliang Song, Michael R Bristow, Charles F McTiernan, Glenn S Gerhard, Hakon Hakonarson, Arthur M Feldm |
| Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant. Human genome variation 2024 12 11 (1): 47. Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Saka |
| Ankylosing spondylitis and cardiovascular disease: A two-sample Mendelian randomization analysis. Medicine 2024 12 103 (50): e40984. Huaigang Chen, Lang Hong, Hong Wang, Bin Li, Liu Ya |
| Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts. Scientific reports 2024 12 14 (1): 30469. Keiichi Hirono, Yukiko Hata, Shojiro Ichimata, Naoki Nishida, Teruhiko Imamura, Yoshihiro Asano, Yuki Kuramoto, Kaori Tsuboi, Shinya Takarada, Mako Okabe, Hideyuki Nakaoka, Keijiro Ibuki, Sayaka Ozawa, Jun Muneuchi, Kazushi Yasuda, Kotaro Urayama, Hideharu Oka, Tomoyuki Miyamoto, Kenji Baba, Akio Kato, Hirofumi Saiki, Naoki Kuwabara, Masako Harada, Shiro Baba, Mari Morikawa, Hidenori Iwasaki, Yuichiro Hirata, Yuki Ito, Heima Sakaguchi, Susumu Urata, Koichi Toda, Emi Kittaka, Seigo Okada, Yohei Hasebe, Shinsuke Hoshino, Takanari Fujii, Norie Mitsushita, Masaki Nii, Kayo Ogino, Mitsuhiro Fujino, Yoko Yoshida, Yutaka Fukuda, Satoru Iwashima, Kiyohiro Takigiku, Yasushi Sakata, Ryo Inuzuka, Jun Maeda, Yasunobu Hayabuchi, Tao Fujioka, Hidemasa Namiki, Shuhei Fujita, Koichi Nishida, Ayako Kuraoka, Nobuhiko Kan, Sachiko Kido, Ken Watanabe, Fukiko Ichi |
| [Correlation between genotype and clinical phenotype in hypertrophic cardiomyopathy families with MYH7-R453C mutation]. Zhonghua xin xue guan bing za zhi 2024 12 52 (12): 1383-1389. Y Wang, B Wang, X L Zhao, J Liu, J R Yuan, J Zhao, L L Zhang, C T Liang, J Wang, L W L |
| Mitochondrial transplantation rescues Ca homeostasis imbalance and myocardial hypertrophy in SLC25A3-related hypertrophic cardiomyopathy. Cell reports 2024 12 43 (12): 115065. Shuang Li, Jianchao Zhang, Wanrong Fu, Jinhua Cao, Zhonggen Li, Xiaoxu Tian, Meng Yang, Jing Zhao, Chuchu Wang, Yangyang Liu, Mengduan Liu, Xiaoyan Zhao, Xiaowei Li, Jianzeng Dong, Yuanming |
| Diagnosing Monogenic Stroke at Younger Age. Stroke 2024 11 . Andreea Ilinca, Efthymia Kafantari, Joel Wallenius, Ulf Kristoffersson, Elisabet Englund, Andreas Puschmann, Arne G Lindgr |
| Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction. Journal of the American Heart Association 2024 11 13 (21): e035614. Keiichi Hirono, Yukiko Hata, Teruhiko Imamura, Kaori Tsuboi, Shinya Takarada, Mako Okabe, Hideyuki Nakaoka, Keijiro Ibuki, Sayaka Ozawa, Shojiro Ichimata, Naoki Nishida, Hidenori Iwasaki, Susumu Urata, Seigo Okada, Tomoya Hiratsuji, Heima Sakaguchi, Kiyohiro Takigiku, Makoto Nakazawa, Eiki Nishihara, Masako Harada, Osamu Matsuo, Kenji Yasuda, Yoko Yoshida, Hidemasa Namiki, Kazushi Yasuda, Toshinobu Ifuku, Kotaro Urayama, Hideharu Oka, Kayo Ogino, Akio Kato, Nobuhiko Kan, Shunji Seki, Mitsuru Seki, Yutaka Odanaka, Satoru Iwashima, Shuichiro Yoshida, Toyohisa Miyata, Tomoyuki Miyamoto, Ken Watanabe, Naoki Kuwabara, Ryo Inuzuka, Yoshihiro Takahashi, Hisanori Sakazaki, Jun Muneuchi, Shigetoyo Kogaki, Fujito Numano, Sachiko Kido, Masaki Nii, Shinsuke Hoshino, Hidekazu Ishida, Jun Maeda, Yasunobu Hayabuchi, Yoshikazu Otsubo, Kazuyuki Ikeda, Shinya Tsukano, Makoto Watanabe, Nobuo Momoi, Takanari Fujii, Tao Fujioka, Mitsuhiro Fujino, Hiroki Uchiyama, Shigehito Baba, Hitoshi Horigome, Takashi Honda, Kazutaka Suzuki, Fukiko Ichi |
| Electrophysiological Phenotype-Genotype Study of Sustained Monomorphic Ventricular Tachycardia in Inherited, High Arrhythmic Risk, Left Ventricular Cardiomyopathy. Circulation. Arrhythmia and electrophysiology 2024 11 e013145. Eva Cabrera-Borrego, Francisco J Bermúdez-Jiménez, Alessio Gasperetti, Harikrishna S Tandri, Pablo J Sánchez-Millán, Manuel Molina-Lerma, Ivo Roca-Luque, Sara Vázquez-Calvo, Paolo Compagnucci, Michela Casella, Claudio Tondo, Petr Peichl, Giovani Peretto, Elena Paiotti, Ardan M Saguner, Pablo García-Pavía, Nerea Mora-Ayestarán, José M Larrañaga-Moreira, Pablo Fernández de-Aspe, Roberto Barriales-Villa, Carmen Muñoz-Esparza, Esther Zorio, Julia Martínez-Solé, Luis Lopes, Johanna B Tonko, Pier Lambiase, Perry M Elliott, Moisés Rodríguez-Mañero, Victoria Cañadas-Godoy, Sebastian Giacoman, Miguel Álvarez-López, Rosa Macías-Ruiz, W J McKenna, Luis Tercedor-Sánchez, Juan Jiménez-Jáim |
| ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm. medRxiv : the preprint server for health sciences 2024 11 . Leora Busse, Emily A Huth, Maria Roselle Abraham, Theodore Abraham, Arun Padmanabhan, Julianne Wojciak, Gabrielle Wright, Rajani Aatre, Rachel Campagna, Erika Jackson, Sarah Kreykes, Kimberly Lane, Lindsey Sawyer, Chelsea Stevens, Matthew Thomas, Rebecca VanDyke, Vasanth Vedantham, Emily J Hig |
| Cardiac magnetic resonance markers of pre-clinical hypertrophic and dilated cardiomyopathy in genetic variant carriers. medRxiv : the preprint server for health sciences 2024 11 . Philip M Croon, Marion van Vugt, Cornelis P Allaart, Bram Ruijsink, Perry M Elliott, Folkert W Asselbergs, Rohan Khera, Connie R Bezzina, Michiel Winter, Amand Floriaan Schmi |
| French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten. Clinical pharmacology and therapeutics 2024 11 . Louis Lebreton, Jean-Christophe Boyer, Claire Lafay-Chebassier, Benjamin Hennart, Sarah Baklouti, Séverine Cunat, Paul Vilquin, Yves Medard, Elodie Gautier-Veyret, Clara Laffitte-Redondo, Céline Verstuyft, Abd El Kader Ait Tayeb, Vincent Haufroid, Julien Wils, Fabien Lamoureux, Alexandre Evrard, Julie Davaze-Schneider, Mouna Ben-Sassi, Nicolas Picard, Sylvie Quaranta, Estelle Ayme-Dietrich, |
| Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy. Journal of multidisciplinary healthcare 2024 11 17 5363-5373. Jiangtao Dong, Wenjuan Zhang, Qianwen Chen, Lingfeng Z |
| To prevent sudden death in m.3243A>G carriers, comprehensive neurologic, cardiac, and pulmological examinations are required. Cardiology in the young 2024 11 1-2. Sounira Mehri, Josef Finster |
| Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy. Nature genetics 2024 11 . Sean L Zheng, Albert Henry, Douglas Cannie, Michael Lee, David Miller, Kathryn A McGurk, Isabelle Bond, Xiao Xu, Hanane Issa, Catherine Francis, Antonio De Marvao, Pantazis I Theotokis, Rachel J Buchan, Doug Speed, Erik Abner, Lance Adams, Krishna G Aragam, Johan Ärnlöv, Anna Axelsson Raja, Joshua D Backman, John Baksi, Paul J R Barton, Kiran J Biddinger, Eric Boersma, Jeffrey Brandimarto, Søren Brunak, Henning Bundgaard, David J Carey, Philippe Charron, James P Cook, Stuart A Cook, Spiros Denaxas, Jean-François Deleuze, Alexander S Doney, Perry Elliott, Christian Erikstrup, Tõnu Esko, Eric H Farber-Eger, Chris Finan, Sophie Garnier, Jonas Ghouse, Vilmantas Giedraitis, Daniel F Guðbjartsson, Christopher M Haggerty, Brian P Halliday, Anna Helgadottir, Harry Hemingway, Hans L Hillege, Isabella Kardys, Lars Lind, Cecilia M Lindgren, Brandon D Lowery, Charlotte Manisty, Kenneth B Margulies, James C Moon, Ify R Mordi, Michael P Morley, Andrew D Morris, Andrew P Morris, Lori Morton, Mahdad Noursadeghi, Sisse R Ostrowski, Anjali T Owens, Colin N A Palmer, Antonis Pantazis, Ole B V Pedersen, Sanjay K Prasad, Akshay Shekhar, Diane T Smelser, Sundararajan Srinivasan, Kari Stefansson, Garðar Sveinbjörnsson, Petros Syrris, Mari-Liis Tammesoo, Upasana Tayal, Maris Teder-Laving, Guðmundur Thorgeirsson, Unnur Thorsteinsdottir, Vinicius Tragante, David-Alexandre Trégouët, Thomas A Treibel, Henrik Ullum, Ana M Valdes, Jessica van Setten, Marion van Vugt, Abirami Veluchamy, W M Monique Verschuren, Eric Villard, Yifan Yang, , , , , Folkert W Asselbergs, Thomas P Cappola, Marie-Pierre Dube, Michael E Dunn, Patrick T Ellinor, Aroon D Hingorani, Chim C Lang, Nilesh J Samani, Svati H Shah, J Gustav Smith, Ramachandran S Vasan, Declan P O'Regan, Hilma Holm, Michela Noseda, Quinn Wells, James S Ware, R Thomas Lumbe |
| Kidney Outcomes in Transthyretin Amyloid Cardiomyopathy. JAMA cardiology 2024 11 . Adam Ioannou, Yousuf Razvi, Aldostefano Porcari, Muhammad U Rauf, Ana Martinez-Naharro, Lucia Venneri, Salsabeel Kazi, Ali Pasyar, Carina M Luxhøj, Aviva Petrie, William Moody, Richard P Steeds, Brett W Sperry, Ronald M Witteles, Carol Whelan, Ashutosh Wechalekar, Helen Lachmann, Philip N Hawkins, Scott D Solomon, Julian D Gillmore, Marianna Fonta |
| Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies. International journal of cardiology 2024 11 419 132729. Flavie Ader, Neil Derridj, Anne Claire Brehin, Olivia Domanski, Jean Benoit Baudelet, Pauline Gras, Alice Kuster, Nadir Benbrik, Yann Troadec, Isabelle Denjoy, Ronan Bonnefoy, Constance Beyler, Salima El Chehadeh, Elise Schaeffer, Delphine Dupin-Deguine, Adrien Bloch, Caroline Rooryck, Julie Proukhnitzky, Gilles Bosser, Marie Vincenti, Estelle Gandjbakhch, Philippe Charron, Pascale Richard, Damien Bonnet, Diala Khraic |
| Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3. JAMA cardiology 2024 11 . Joseph Park, Michael G Levin, David Zhang, Nosheen Reza, Jonathan O Mead, Eric D Carruth, Melissa A Kelly, Alex Winters, Colleen M Kripke, Renae L Judy, Scott M Damrauer, Anjali T Owens, Lisa Bastarache, Anurag Verma, Daniel D Kinnamon, Ray E Hershberger, Marylyn D Ritchie, Daniel J Rad |
| Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy. Circulation. Arrhythmia and electrophysiology 2024 11 17 (11): e013114. Nak Hyun Choi, Sara Cherny, Charles I Berul, William R Goodyer, Taylor S Howard, Anna Joong, Leonardo Liberman, Eric S Silver, Chet R Villa, Teresa M Lee, Warren A Zuckerm |
| Progression of myocardial dysfunction and prediction of arrhythmic events in patients with exercise-induced arrhythmogenic cardiomyopathy. Heart rhythm O2 2024 11 5 (10): 705-712. Linda T Aaserud, Christine Rootwelt-Norberg, Christian K Five, Eivind W Aabel, Nina E Hasselberg, Erik Lyseggen, Kristina H Haugaa, Øyvind H L |
| Arrhythmic risk stratification in patients with left ventricular ring-like scar. European journal of preventive cardiology 2024 11 . Vanda Parisi, Maddalena Graziosi, Luis R Lopes, Antonio De Luca, Ferdinando Pasquale, Giacomo Tini, Mattia Targetti, Maria R Cueto, Ana R Moura, Raffaello Ditaranto, Camilla Torlasco, Nevio Taglieri, Elena Nardi, Luigi Lovato, João B Augusto, Nazzareno Galiè, Lia Crotti, Alessio Gasperetti, Mauro Biffi, Camillo Autore, Marco Merlo, Iacopo Olivotto, Gianfranco Sinagra, Perry M Elliott, Elena Biagi |
| Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms. Human genomics 2024 10 18 (1): 118. Rui Dong, Xin Zhou, Haiyan Zhang, Bingyi Shi, Guohua Liu, Yi L |
| Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes. Circulation. Genomic and precision medicine 2024 10 e004464. Megan E Ramaker, Jawan W Abdulrahim, Kristin M Corey, Ryne C Ramaker, Lydia Coulter Kwee, William E Kraus, Svati H Sh |
| Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation. Frontiers in transplantation 2025 1 3 1431851. Ludmila De Oliveira Jaime Sales, Paulo Sampaio Gutierrez, Adailson Wagner D Siqueira, Marcelo Biscegli Jatene, Estela Aze |
| Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals. International journal of cardiology 2025 1 422 132951. Stephan A C Schoonvelde, Georgios M Alexandridis, Laura B Price, Arend F L Schinkel, Alexander Hirsch, Peter-Paul Zwetsloot, Janneke A E Kammeraad, Marjon A van Slegtenhorst, Judith M A Verhagen, Rudolf A de Boer, Michelle Miche |
| Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea. Journal of Korean medical science 2025 1 39 (50): e313. Seo-Yeon Gwak, Jiwon Seo, Go Hun Seo, Jiyoung Oh, Hyun-Jung Lee, Kyu Kim, Iksung Cho, Chi Young Shim, Jong-Won Ha, Geu-Ru Ho |
- Page last reviewed:Feb 1, 2024
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