HuGE Literature Finder
Records
1
-
29
| 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 |
| Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy. Forensic science international. Genetics 2021 2 52 102478. Mori Augusto Akira, Castro Lara Reinel de, Bortolin Raul Hernandes, Bastos Gisele Medeiros, Oliveira Victor Fernandes de, Ferreira Glaucio Monteiro, Hirata Thiago Dominguez Crespo, Fajardo Cristina Moreno, Sampaio Marcelo Ferraz, Moreira Dalmo Antonio Ribeiro, Pachón-Mateos José Carlos, Correia Edileide de Barros, Sousa Amanda Guerra de Moraes Rego, Brión Maria, Carracedo Angel, Hirata Rosario Dominguez Crespo, Hirata Mario Hiroyu |
| Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. Molecular genetics & genomic medicine 2020 9 8 (11): e1504. Carnevale Alessandra, Rosas-Madrigal Sandra, Rosendo-Gutiérrez Rigoberto, López-Mora Enrique, Romero-Hidalgo Sandra, Avila-Vazzini Nydia, Jacobo-Albavera Leonor, Domínguez-Pérez Mayra, Vargas-Alarcón Gilberto, Pérez-Villatoro Fernando, Navarrete-Martínez Juana Inés, Villarreal-Molina María Tere |
| Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing. Journal of clinical medicine 2020 6 9 (6): . Magrì Damiano, Mastromarino Vittoria, Gallo Giovanna, Zachara Elisabetta, Re Federica, Agostoni Piergiuseppe, Giordano Dario, Rubattu Speranza, Forte Maurizio, Cotugno Maria, Torrisi Maria Rosaria, Petrucci Simona, Germani Aldo, Savio Camilla, Maruotti Antonello, Volpe Massimo, Autore Camillo, Piane Maria, Musumeci Beatri |
| Genetic characterization and genotype-phenotype associations in a large cohort of patients with hypertrophic cardiomyopathy - An ancillary study of the Portuguese registry of hypertrophic cardiomyopathy. International journal of cardiology 2018 Dec . Lopes Luis Rocha, Brito Dulce, Belo Adriana, Cardim Nuno, |
| Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. Journal of human genetics 2018 Jun . Hayashi Takeharu, Tanimoto Kousuke, Hirayama-Yamada Kayoko, Tsuda Etsuko, Ayusawa Mamoru, Nunoda Shinichi, Hosaki Akira, Kimura Akino |
| Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
| Detection of Variants in Patients with Idiopathic Ventricular Fibrillation by Whole-exome Sequencing. Annals of clinical and laboratory science 2018 8 48 (4): 427-434. Chang Ya-Sian, Lee Chien-Chin, Huang Hsi-Yuan, Lin Kuo-Hung, Chen Jan-Yow, Chang Kuan-Cheng, Chang Jan-Gow |
| Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. Journal of human genetics 2017 Jun 62 (6): 615-620. Song Ju Sun, Kang Jong-Sun, Kim Young-Eun, Park Seung-Jung, Park Kyoung-Min, Huh June, Kim June Soo, Cho Hana, Ki Chang-Seok, On Young Ke |
| Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals. Clinical research in cardiology : official journal of the German Cardiac Society 2017 8 107 (1): 30-41. Sedaghat-Hamedani Farbod, Kayvanpour Elham, Tugrul Oguz Firat, Lai Alan, Amr Ali, Haas Jan, Proctor Tanja, Ehlermann Philipp, Jensen Katrin, Katus Hugo A, Meder Benjam |
| Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. Genetic testing and molecular biomarkers 2016 Nov 20 (11): 674-679. Jaafar Nawel, Gómez Juan, Kammoun Ikram, Zairi Ihsen, Amara Wael Ben, Kachboura Salem, Kraiem Sondes, Hammami Mohamed, Iglesias Sara, Alonso Belén, Coto Eliec |
| Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. American journal of medical genetics. Part A 2016 Sep . Ploski Rafal, Rydzanicz Malgorzata, Ksiazczyk Tomasz M, Franaszczyk Maria, Pollak Agnieszka, Kosinska Joanna, Michalak Ewa, Stawinski Piotr, Ziolkowska Lidia, Bilinska Zofia T, Werner Boze |
| Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
| Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. Revista espanola de cardiologia (English ed.) 2015 Oct . Ripoll-Vera Tomás, Gámez José María, Govea Nancy, Gómez Yolanda, Núñez Juana, Socías Lorenzo, Escandell Ángela, Rosell Jor |
| Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy. International journal of molecular medicine 2015 Oct . Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
| [Mutation and clinical relevance in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy]. Zhonghua xin xue guan bing za zhi 2015 Aug 43 (8): 682-9. Jie Liu, Wenling Liu, Dayi Hu, Tiangang Zhu, Wen Liu, Zhanfeng Ma, Jie Yang, Wenli Xie, Cuilan Li, Lei Li, Guozhong P |
| Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA and cell biology 2015 May 34 (5): 350-9. Selvi Rani Deepa, Nallari Pratibha, Dhandapany Perundurai S, Rani Jhansi, Meraj Khunza, Ganesan Mala, Narasimhan Calambur, Thangaraj Kumarasa |
| Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. The American journal of cardiology 2013 Aug 112 (4): 585-9. Liu Wen, Liu Wenling, Hu Dayi, Zhu Tiangang, Ma Zhanfeng, Yang Jie, Xie Wenli, Li Cuilan, Li Lei, Yang Jingang, Li Tianchang, Bian Hong, Tong Qigua |
| Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. European journal of heart failure 2013 Jan . van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP |
| Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2012 Sep 31 (9): 577-87. Brito Dulce, Miltenberger-Miltenyi Gabriel, Vale Pereira Sónia, Silva Doroteia, Diogo António Nunes, Madeira Hu |
| A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. BMC medical genetics 2012 13 105. Teirlinck Carolien H, Senni Faïza, Malti Rajae El, Majoor-Krakauer Danielle, Fellmann Florence, Millat Gilles, André-Fouët Xavier, Pernot François, Stumpf Michaël, Boutarin Jean, Bouvagnet Patri |
| Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. Journal of the American College of Cardiology 2010 Apr 55 (14): 1444-53. Girolami Francesca, Ho Carolyn Y, Semsarian Christopher, Baldi Massimo, Will Melissa L, Baldini Katia, Torricelli Francesca, Yeates Laura, Cecchi Franco, Ackerman Michael J, Olivotto Iaco |
| Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families. Revista espanola de cardiologia 2009 Dec 62 (12): 12. Gimeno Juan R, Monserrat Lorenzo, Pérez-Sánchez Inmaculada, Marín Francisco, Caballero Luis, Hermida-Prieto Manuel, Castro Alfonso, Valdés Maria |
| Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. Heart rhythm : the official journal of the Heart Rhythm Society 2009 Nov 6 (11 Suppl): S18-24. Heradien Marshall, Revera Miriam, van der Merwe Lize, Goosen Althea, Corfield Valerie A, Brink Paul A, Mayosi Bongani M, Moolman-Smook Johanna |
| Shared genetic causes of cardiac hypertrophy in children and adults. The New England journal of medicine 2008 May 358 (18): 1899-908. Morita Hiroyuki, Rehm Heidi L, Menesses Andres, McDonough Barbara, Roberts Amy E, Kucherlapati Raju, Towbin Jeffrey A, Seidman J G, Seidman Christine |
| [A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy]. Zhonghua yi xue za zhi 2004 Aug 84 (16): 1340-3. An Feng-shuang, Zhang Yun, Li Da-qing, Yang Xing-sheng, Li Li, Zhang Cheng, Yan Mo-lei, Wang Yan, An Gui-pe |
| Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 2002 Dec 106 (24): 3085-90. Van Driest Sara L, Ackerman Michael J, Ommen Steve R, Shakur Rameen, Will Melissa L, Nishimura Rick A, Tajik A Jamil, Gersh Bernard |
| Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. Journal of the American College of Cardiology 2002 Jun 39 (12): 2042-8. Ackerman Michael J, VanDriest Sara L, Ommen Steve R, Will Melissa L, Nishimura Rick A, Tajik A Jamil, Gersh Bernard |
| Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. European journal of medical genetics 0 53 (5): 261-7. Millat Gilles, Bouvagnet Patrice, Chevalier Philippe, Dauphin Claire, Jouk Pierre Simon, Da Costa Antoine, Prieur Fabienne, Bresson Jean-Luc, Faivre Laurence, Eicher Jean-Christophe, Chassaing Nicolas, Crehalet Hervé, Porcher Raphael, Rodriguez-Lafrasse Claire, Rousson Robe |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
- Content source: