Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 131 Records) |
| Query Trace: Disease and MYBPC3[original query] |
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| MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations. BMC cardiovascular disorders 2022 6 22 (1): 278. Lin Li-Rong, Hu Xue-Qun, Lu Li-Hong, Dai Jia-Zhen, Lin Ning-Ning, Wang Re-Hua, Xie Zhang-Xin, Chen Xue-M |
| Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. Journal of personalized medicine 2022 Apr 12 (5): . Kurzlechner Leonie M, Jones Edward G, Berkman Amy M, Tadros Hanna J, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Kim Jeffrey J, Landstrom Andrew |
| The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes. Diagnostics (Basel, Switzerland) 2022 May 12 (5): . Sepp Róbert, Hategan Lidia, Csányi Beáta, Borbás János, Tringer Annamária, Pálinkás Eszter Dalma, Nagy Viktória, Takács Hedvig, Latinovics Dóra, Nyolczas Noémi, Pálinkás Attila, Faludi Réka, Rábai Miklós, Szabó Gábor Tamás, Czuriga Dániel, Balogh László, Halmosi Róbert, Borbély Attila, Habon Tamás, Heged?s Zoltán, Nagy Istv |
| Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank. JAMA cardiology 2022 May . Biddinger Kiran J, Jurgens Sean J, Maamari Dimitri, Gaziano Liam, Choi Seung Hoan, Morrill Valerie N, Halford Jennifer L, Khera Amit V, Lubitz Steven A, Ellinor Patrick T, Aragam Krishna |
| 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 |
| Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents. Journal of pediatric hematology/oncology 2022 5 . Wagener Rabea, Walter Carolin, Surowy Harald M, Brandes Danielle, Soura Stavrieta, Alzoubi Deya, Yasin Layal, Fischer Ute, Dugas Martin, Borkhardt Arndt, Brozou Triantafyll |
| Circulating miR-499a-5p Is a Potential Biomarker of MYH7-Associated Hypertrophic Cardiomyopathy. International journal of molecular sciences 2022 4 23 (7): . Baulina Natalia, Pisklova Maria, Kiselev Ivan, Chumakova Olga, Zateyshchikov Dmitry, Favorova Ol |
| Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis. Frontiers in cardiovascular medicine 2022 3 9 804788. Shabani Mahsima, Dutta Diptavo, Ambale-Venkatesh Bharath, Post Wendy S, Taylor Kent D, Rich Stephen S, Wu Colin O, Pereira Naveen L, Shah Sanjiv J, Chatterjee Nilanjan, Rotter Jerome I, Arking Dan E, Lima Joao A |
| Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort. Circulation. Genomic and precision medicine 2022 2 15 (2): e003536. Tomar Swati, Klinzing David C, Chen Ching Kit, Gan Louis Hanqiang, Moscarello Tia, Reuter Chloe, Ashley Euan A, Foo Rog |
| Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nature genetics 2022 Feb . Jurgens Sean J, Choi Seung Hoan, Morrill Valerie N, Chaffin Mark, Pirruccello James P, Halford Jennifer L, Weng Lu-Chen, Nauffal Victor, Roselli Carolina, Hall Amelia W, Oetjens Matthew T, Lagerman Braxton, vanMaanen David P, , Aragam Krishna G, Lunetta Kathryn L, Haggerty Christopher M, Lubitz Steven A, Ellinor Patrick |
| Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. 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 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
| Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies. Pharmacogenomics and personalized medicine 2023 9 16 883-893. Deepa Selvi Rani, Apoorva Kasala, Perundurai S Dhandapany, Uthiralingam Muthusami, Sreejith Kunnoth, Andiappan Rathinavel, Dharma Rakshak Ayapati, Kumarasamy Thangar |
| 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 |
| 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 |
| Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland. Journal of the American Heart Association 2023 7 12 (14): e029845. Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B Davidsson, Rosa B Thorolfsdottir, Vinicius Tragante, Gudny A Arnadottir, Brynjar O Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F Gudbjartsson, Hilma Holm, David O Arnar, Kari Stefanss |
| Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers. Journal of cardiovascular translational research 2023 6 . Mark Jansen, A F Schmidt, J J M Jans, I Christiaans, S N van der Crabben, Y M Hoedemaekers, D Dooijes, J D H Jongbloed, L G Boven, R H Lekanne Deprez, A A M Wilde, J van der Velden, R A de Boer, J P van Tintelen, F W Asselbergs, A F Ba |
| Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy. Archives of cardiovascular diseases 2023 5 . Chloé Wanert, Fedoua El Louali, Sarab Al Dybiat, Karine Nguyen, Stéphane Zaffran, Caroline Ovae |
| Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain. Genes 2023 4 14 (4): . Natalia Fernández Suárez, María Teresa Viadero Ubierna, Jesús Garde Basas, María Esther Onecha de la Fuente, María Teresa Amigo Lanza, Gonzalo Martin Gorria, Adrián Rivas Pérez, Luis Ruiz Guerrero, Domingo González-Lamu |
| Whole-exome sequencing in searching for novel variants associated with the development of high altitude pulmonary edema. Gene 2023 3 870 147384. Chen Mingyue, Yi Faling, Qi Yijin, Zhao Beibei, Zhang Zhanhao, He Xue, Yuan Dongya, Jin Tian |
| Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants. International journal of molecular sciences 2023 2 24 (4): . Jansen Mark, Schuldt Maike, van Driel Beau O, Schmidt Amand F, Christiaans Imke, van der Crabben Saskia N, Hoedemaekers Yvonne M, Dooijes Dennis, Jongbloed Jan D H, Boven Ludolf G, Deprez Ronald H Lekanne, Wilde Arthur A M, Jans Judith J M, van der Velden Jolanda, de Boer Rudolf A, van Tintelen J Peter, Asselbergs Folkert W, Baas Annette |
| 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 |
| Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review. The Indian journal of medical research 2023 10 158 (2): 119-135. Linda Koshy, Sanjay Ganapathi, Panniyammakal Jeemon, M Madhuma, Y Vysakh, L R Lakshmikanth, Sivadasanpillai Harikrishn |
| Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy. JACC. Heart failure 2024 9 . Takashi Hiruma, Shunsuke Inoue, Zhehao Dai, Seitaro Nomura, Toru Kubo, Kenta Sugiura, Atsushi Suzuki, Takeshi Kashimura, Shouji Matsushima, Takanobu Yamada, Takashige Tobita, Manami Katoh, Toshiyuki Ko, Masamichi Ito, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Eiki Takimoto, Hiroshi Akazawa, Hiroyuki Morita, Junichi Yamaguchi, Takayuki Inomata, Hiroyuki Tsutsui, Hiroaki Kitaoka, Hiroyuki Aburatani, Norihiko Takeda, Issei Komu |
| The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy. International journal of cardiology 2024 9 417 132542. Albert Hagège, Tania Puscas, Mohamed El Hachmi, Alessandro Parodi, Anne Bacher, Benoit Funalot, Karim Wahbi, Xavier Jeunemaître, Thibaud Damy, Clarisse Billon, |
| Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study. Journal of cardiovascular translational research 2024 8 . Nina Vodnjov, Aleš Maver, Nataša Teran, Borut Peterlin, Janez Toplišek, Karin Writ |
| Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy. International journal of cardiology 2024 6 132273. Sivadasanpillai Harikrishnan, Linda Koshy, Sanjay Ganapathi, Panniyammakal Jeemon, N K Ramya Das, Madhusoodanan Urulangodi, M Madhuma, Y Vysakh, Anjana Subran, L R Lakshmikan |
| Influence of Clinical Aspects and Genetic Factors on Feline HCM Severity and Development. Veterinary sciences 2024 5 11 (5): . Victoria Korobova, Yulia Kruglo |
| 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 |
| Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort. Annals of laboratory medicine 2024 10 . Silvia Caroselli, Marco Fabiani, Caterina Micolonghi, Camilla Savio, Giacomo Tini, Beatrice Musumeci, Erika Pagannone, Aldo Germani, Fabio Libi, Vincenzo Visco, Antonio Pizzuti, Camillo Autore, Simona Petrucci, Speranza Rubattu, Maria Pia |
| Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study. Mayo Clinic proceedings 2024 10 . Marta Figueiral, Alessia Paldino, Matheus Vernet Machado Bressan Wilke, Joseph D Farris, Jan Verheijen, John R Giudicessi, Michael J Ackerman, Janet E Olson, Jennifer Arroyo, Rory J Olson, Eric W Klee, Naveen L Perei |
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