Artículos de revistas sobre el tema "Hypertrophic cardiomyopathy, gene mutations, QT"
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Bezzerides, Vassilios J., Maksymilian Prondzynski, Lucie Carrier y William T. Pu. "Gene therapy for inherited arrhythmias". Cardiovascular Research 116, n.º 9 (22 de abril de 2020): 1635–50. http://dx.doi.org/10.1093/cvr/cvaa107.
Texto completoCava, Francesco, Ernesto Cristiano, Maria Lo Monaco, Maria Beatrice Musumeci, Camilla Savio, Simona Petrucci, Speranza Donatella Rubattu, Maria Piane y Camillo Autore. "370 The CO-existence of KCNQ1 and TNNI3 genes mutations supports the genetic origin of QTC abnormalities in hypertrophic cardiomyopathy". European Heart Journal Supplements 22, Supplement_N (1 de diciembre de 2020): N83—N87. http://dx.doi.org/10.1093/eurheartj/suaa201.
Texto completoHuang, Pang-Shuo, Chia-Shan Hsieh, Sheng-Nan Chang, Jien-Jiun Chen, Fu-Chun Chiu, Cho-Kai Wu, Juey-Jen Hwang, Eric Y. Chuang y Chia-Ti Tsai. "Prevalence of sudden arrhythmic death syndrome-related genetic mutations in an Asian cohort of whole genome sequence". EP Europace 22, n.º 8 (28 de junio de 2020): 1287–97. http://dx.doi.org/10.1093/europace/euaa092.
Texto completoAlonso-Barroso, Esmeralda, Belén Pérez, Lourdes Ruiz Desviat y Eva Richard. "Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia". International Journal of Molecular Sciences 22, n.º 3 (25 de enero de 2021): 1161. http://dx.doi.org/10.3390/ijms22031161.
Texto completoArad, Michael, Manual Penas-Lado, Lorenzo Monserrat, Barry J. Maron, Mark Sherrid, Carolyn Y. Ho, Scott Barr et al. "Gene Mutations in Apical Hypertrophic Cardiomyopathy". Circulation 112, n.º 18 (noviembre de 2005): 2805–11. http://dx.doi.org/10.1161/circulationaha.105.547448.
Texto completoHayashi, Takeharu, Takuro Arimura, Manatsu Itoh-Satoh, Kazuo Ueda, Shigeru Hohda, Natsuko Inagaki, Megumi Takahashi et al. "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of the American College of Cardiology 44, n.º 11 (diciembre de 2004): 2192–201. http://dx.doi.org/10.1016/j.jacc.2004.08.058.
Texto completoHayashi, T., T. Arimura y M. Itoh-Satoh. "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy". ACC Current Journal Review 14, n.º 4 (abril de 2005): 62–63. http://dx.doi.org/10.1016/j.accreview.2005.03.035.
Texto completoSeidman, Christine E. y J. G. Seidman. "Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy". Circulation Research 108, n.º 6 (18 de marzo de 2011): 743–50. http://dx.doi.org/10.1161/circresaha.110.223834.
Texto completoRadbill, Andrew E., Lucy Y. Lei, Sachin Y. Paranjape, Daniel J. Blackwell, Robert L. Abraham, Derek S. Chew, Satish R. Raj y Björn C. Knollmann. "Assessment of dynamic cardiac repolarization and contractility in patients with hypertrophic cardiomyopathy". PLOS ONE 16, n.º 2 (11 de febrero de 2021): e0246768. http://dx.doi.org/10.1371/journal.pone.0246768.
Texto completoŠkvor, J. y P. Čapek. "Hypertrophic Cardiomyopathy". Methods of Information in Medicine 45, n.º 02 (2006): 169–72. http://dx.doi.org/10.1055/s-0038-1634062.
Texto completoMasum, Md Mohiuddin, Md Abdullah Al Sayeef, Rayhan Shahrear, Devjani Banik, Gonopati Biswas y Zinnat Ara Yesmin. "Hypertrophic Cardiomyopathy: The Molecular Genetics". Faridpur Medical College Journal 14, n.º 1 (26 de marzo de 2020): 44–49. http://dx.doi.org/10.3329/fmcj.v14i1.46168.
Texto completoTran Vu, Minh Thu, Thuy Vy Nguyen, Nha Van Huynh, Hoang Tam Nguyen Thai, Vinh Pham Nguyen y Thuy Duong Ho Huynh. "Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy". Circulation Journal 83, n.º 9 (23 de agosto de 2019): 1908–16. http://dx.doi.org/10.1253/circj.cj-19-0190.
Texto completoMonda, Emanuele, Martina Caiazza y Giuseppe Limongelli. "The Expanding Spectrum of FLNC Cardiomyopathy". Cardiogenetics 12, n.º 4 (22 de noviembre de 2022): 276–77. http://dx.doi.org/10.3390/cardiogenetics12040027.
Texto completoChung, Wendy K., Carrie Kitner y Barry J. Maron. "Novel frameshift mutation in Troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death". Cardiology in the Young 21, n.º 3 (25 de enero de 2011): 345–48. http://dx.doi.org/10.1017/s1047951110001927.
Texto completoKargaran, Parisa K., Jared M. Evans, Sara E. Bodbin, James G. W. Smith, Timothy J. Nelson, Chris Denning y Diogo Mosqueira. "Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy". Journal of Clinical Medicine 9, n.º 8 (23 de julio de 2020): 2349. http://dx.doi.org/10.3390/jcm9082349.
Texto completoRichard, Pascale, Richard Isnard, Lucie Carrier, Olivier Dubourg, Yves Donatien, Bénédicte Mathieu, Gisèle Bonne et al. "Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy". Journal of Medical Genetics 36, n.º 7 (1 de julio de 1999): 542–45. http://dx.doi.org/10.1136/jmg.36.7.542.
Texto completoMcNally, Elizabeth M. "β-Myosin Heavy Chain Gene Mutations in Familial Hypertrophic Cardiomyopathy". Circulation Research 90, n.º 3 (22 de febrero de 2002): 246–47. http://dx.doi.org/10.1161/res.90.3.246.
Texto completoArimura, Takuro, J. Martijn Bos, Akinori Sato, Toru Kubo, Hiroshi Okamoto, Hirofumi Nishi, Haruhito Harada et al. "Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy". Journal of the American College of Cardiology 54, n.º 4 (julio de 2009): 334–42. http://dx.doi.org/10.1016/j.jacc.2008.12.082.
Texto completoGruner, Christiane, Melanie Care, Katherine Siminovitch, Gil Moravsky, E. Douglas Wigle, Anna Woo y Harry Rakowski. "Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy". Circulation: Cardiovascular Genetics 4, n.º 3 (junio de 2011): 288–95. http://dx.doi.org/10.1161/circgenetics.110.958835.
Texto completoNiimura, Hideshi, Kristen K. Patton, William J. McKenna, Johann Soults, Barry J. Maron, J. G. Seidman y Christine E. Seidman. "Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly". Circulation 105, n.º 4 (29 de enero de 2002): 446–51. http://dx.doi.org/10.1161/hc0402.102990.
Texto completoBos, J. Martijn, Malayannan Subramaniam, John R. Hawse, Imke Christiaans, Nalini M. Rajamannan, Joseph J. Maleszewski, William D. Edwards, Arthur A. M. Wilde, Thomas C. Spelsberg y Michael J. Ackerman. "TGFβ-inducible early gene-1 (TIEG1) mutations in hypertrophic cardiomyopathy". Journal of Cellular Biochemistry 113, n.º 6 (10 de abril de 2012): 1896–903. http://dx.doi.org/10.1002/jcb.24058.
Texto completoWang, Jing, Rui-Qi Guo, Jian-Ying Guo, Lei Zuo, Chang-Hui Lei, Hong Shao, Li-Feng Wang, Yan-Min Zhang y Li-Wen Liu. "Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family". Cardiology in the Young 28, n.º 9 (6 de julio de 2018): 1106–14. http://dx.doi.org/10.1017/s1047951118000860.
Texto completoVullaganti, Sirish, Jonathan Levine, Nisha Raiker, Amer Ahmed Syed, Jeremy D. Collins, James C. Carr, Robert O. Bonow y Lubna Choudhury. "Fibrosis in Hypertrophic Cardiomyopathy Patients With and Without Sarcomere Gene Mutations". Heart, Lung and Circulation 30, n.º 10 (octubre de 2021): 1496–501. http://dx.doi.org/10.1016/j.hlc.2021.04.008.
Texto completoKimura, Akinori, Haruhito Harada, Jeong-Euy Park, Hirofumi Nishi, Manatsu Satoh, Megumi Takahashi, Shitoshi Hiroi et al. "Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy". Nature Genetics 16, n.º 4 (agosto de 1997): 379–82. http://dx.doi.org/10.1038/ng0897-379.
Texto completoSri, Anita, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali y Inga Voges. "A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations". Case Reports in Pediatrics 2019 (26 de marzo de 2019): 1–7. http://dx.doi.org/10.1155/2019/7640140.
Texto completoMahadevaiah, Guruprasad, Manoj Gupta y Ravi Ashwath. "Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis". Texas Heart Institute Journal 42, n.º 5 (1 de octubre de 2015): 458–61. http://dx.doi.org/10.14503/thij-14-4256.
Texto completoGao, Jun, John Collyer, Maochun Wang, Fengping Sun y Fuyi Xu. "Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq". International Journal of Molecular Sciences 21, n.º 9 (25 de abril de 2020): 3040. http://dx.doi.org/10.3390/ijms21093040.
Texto completoButt, Mohammad Omar, Lisa Ezegbu y Inga Robbins. "LEFT VENTRICULAR NON-COMPACTION AND HYPERTROPHIC CARDIOMYOPATHY - AN INTERPLAY OF GENE MUTATIONS". Journal of the American College of Cardiology 77, n.º 18 (mayo de 2021): 2182. http://dx.doi.org/10.1016/s0735-1097(21)03537-3.
Texto completoMogensen, J. "Clinical and genetic characteristics of cardiac actin gene mutations in hypertrophic cardiomyopathy". Journal of Medical Genetics 41, n.º 1 (1 de enero de 2004): 10e—10. http://dx.doi.org/10.1136/jmg.2003.010447.
Texto completoChung, Hyemoon, Jong-Youn Kim, Pil-Ki Min, Young Won Yoon, Byoung Kwon Lee, Bum-Kee Hong, Se-Joong Rim, Hyuck Moon Kwon y Eui-Young Choi. "DIFFERENT CONTRIBUTION OF SARCOMERE AND MITOCHONDRIA RELATED GENE MUTATIONS TO HYPERTROPHIC CARDIOMYOPATHY". Journal of the American College of Cardiology 71, n.º 11 (marzo de 2018): A901. http://dx.doi.org/10.1016/s0735-1097(18)31442-6.
Texto completoChida, Ayako, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani et al. "Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy". Heart and Vessels 32, n.º 6 (24 de noviembre de 2016): 700–707. http://dx.doi.org/10.1007/s00380-016-0920-0.
Texto completoWang, Hu, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao Zou et al. "Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy". American Journal of Human Genetics 87, n.º 5 (noviembre de 2010): 687–93. http://dx.doi.org/10.1016/j.ajhg.2010.10.002.
Texto completoKaski, Juan Pablo, Petros Syrris, Maria Teresa Tome Esteban, Sharon Jenkins, Antonios Pantazis, John E. Deanfield, William J. McKenna y Perry M. Elliott. "Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy". Circulation: Cardiovascular Genetics 2, n.º 5 (octubre de 2009): 436–41. http://dx.doi.org/10.1161/circgenetics.108.821314.
Texto completoGreber-Platzer, Susanne, Manfred Marx, Christine Fleischmann, Christa Suppan, Maria Dobner y Maria Wimmer. "Beta-myosin Heavy Chain Gene Mutations and Hypertrophic Cardiomyopathy in Austrian Children". Journal of Molecular and Cellular Cardiology 33, n.º 1 (enero de 2001): 141–48. http://dx.doi.org/10.1006/jmcc.2000.1287.
Texto completoSalakhov, R. R., M. V. Golubenko, E. N. Pavlukova, A. N. Kucher, N. P. Babushkina, N. R. Valiahmetov, A. V. Markov, E. O. Belyaeva, A. F. Kanev y M. S. Nazarenko. "Experience in genetic testing of hypertrophic cardiomyopathy using nanopore DNA sequencing". Russian Journal of Cardiology 26, n.º 10 (22 de noviembre de 2021): 4673. http://dx.doi.org/10.15829/1560-4071-2021-4673.
Texto completoMazurová, S., M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek, A. Vondráčková, J. Zeman y Tomáš Honzík. "Novel Mutations in the TAZ Gene in Patients with Barth Syndrome". Prague Medical Report 114, n.º 3 (2013): 139–53. http://dx.doi.org/10.14712/23362936.2014.16.
Texto completoRoston, Thomas M., Taylor Cunningham, Anna Lehman, Zachary W. Laksman, Andrew D. Krahn y Shubhayan Sanatani. "Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes". Clinical Medicine Insights: Cardiology 11 (1 de enero de 2017): 117954681769813. http://dx.doi.org/10.1177/1179546817698134.
Texto completoZheng, Hua, Huajie Huang, Zhisong Ji, Qi Yang, Qiuxia Yu, Fan Shen, Cuixian Liu y Fu Xiong. "A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family". Cardiology 133, n.º 2 (28 de octubre de 2015): 91–96. http://dx.doi.org/10.1159/000440877.
Texto completoWang, Shuai, Qinglei Wang, Ning Zhai, Xin Wang, Zhihua Li, Lijun Gan y Yinghua Cui. "Progression of Danon disease with medical imaging: two case reports". Journal of International Medical Research 49, n.º 2 (febrero de 2021): 030006052098667. http://dx.doi.org/10.1177/0300060520986676.
Texto completoGeier, Christian, Andreas Perrot, Cemil Özcelik, Priska Binner, Damian Counsell, Katrin Hoffmann, Bernhard Pilz et al. "Mutations in the Human Muscle LIM Protein Gene in Families With Hypertrophic Cardiomyopathy". Circulation 107, n.º 10 (18 de marzo de 2003): 1390–95. http://dx.doi.org/10.1161/01.cir.0000056522.82563.5f.
Texto completoSequeira, Vasco, Paul J. M. Wijnker, Louise L. A. M. Nijenkamp, Diederik W. D. Kuster, Aref Najafi, E. Rosalie Witjas-Paalberends, Jessica A. Regan et al. "Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations". Circulation Research 112, n.º 11 (24 de mayo de 2013): 1491–505. http://dx.doi.org/10.1161/circresaha.111.300436.
Texto completoJoshi, V. A., A. E. Roberts y R. S. Kucherlapati. "Noonan syndrome associated congenital hypertrophic cardiomyopathy and the role of sarcomere gene mutations". Progress in Pediatric Cardiology 24, n.º 1 (noviembre de 2007): 75–76. http://dx.doi.org/10.1016/j.ppedcard.2007.08.009.
Texto completoCallis, Thomas E., Justin W. Leighton, Sandra J. Gunselman y Jeana T. DaRe. "FREQUENCY OF METABOLIC GENE MUTATIONS IN PATIENTS REFERRED FOR HYPERTROPHIC CARDIOMYOPATHY GENETIC TESTING". Journal of the American College of Cardiology 63, n.º 12 (abril de 2014): A821. http://dx.doi.org/10.1016/s0735-1097(14)60821-4.
Texto completoYamauchi-Takihara, K., C. Nakajima-Taniguchi, H. Matsui, Y. Fujio, K. Kunisada, S. Nagata y T. Kishimoto. "Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene." Heart 76, n.º 1 (1 de julio de 1996): 63–65. http://dx.doi.org/10.1136/hrt.76.1.63.
Texto completoSeidman, Christine, Hugh Watkins, Ludwig Thierfelder, Ted Love, Dar-San Hwang, William McKenna y Jonathan Seidman. "Analyses of cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy". Journal of Molecular and Cellular Cardiology 24 (mayo de 1992): 19. http://dx.doi.org/10.1016/0022-2828(92)90088-h.
Texto completoCoppini, Raffaele, Carolyn Y. Ho, Euan Ashley, Sharlene Day, Cecilia Ferrantini, Francesca Girolami, Benedetta Tomberli et al. "Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations". Journal of the American College of Cardiology 64, n.º 24 (diciembre de 2014): 2589–600. http://dx.doi.org/10.1016/j.jacc.2014.09.059.
Texto completoOlson, Timothy M., Thao P. Doan, Nina Y. Kishimoto, Frank G. Whitby, Michael J. Ackerman y Lameh Fananapazir. "Inherited and de novo Mutations in the Cardiac Actin Gene Cause Hypertrophic Cardiomyopathy". Journal of Molecular and Cellular Cardiology 32, n.º 9 (septiembre de 2000): 1687–94. http://dx.doi.org/10.1006/jmcc.2000.1204.
Texto completoКомиссарова, С. М., Н. М. Ринейская, Н. Н. Чакова, С. С. Ниязова, Т. А. Севрук y И. К. Гайдель. "Noonan syndrome with Phenotype of hypertrophic Cardiomyopathy: Clinical Observation". Кардиология в Беларуси, n.º 1 (7 de abril de 2020): 125–38. http://dx.doi.org/10.34883/pi.2020.12.1.011.
Texto completode Feria, Alejandro E., Andrew E. Kott y Jason R. Becker. "Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity". Open Heart 8, n.º 1 (febrero de 2021): e001560. http://dx.doi.org/10.1136/openhrt-2020-001560.
Texto completoPeng, Y., J. Xu, Y. Wang, J. Zhao, L. Zhang, Z. Chen, Y. Jiang, S. Banerjee, Z. Zhang y M. Bai. "A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity". Balkan Journal of Medical Genetics 25, n.º 1 (1 de junio de 2022): 71–78. http://dx.doi.org/10.2478/bjmg-2022-0002.
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