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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 |
Increased Myocardial Oxygen Consumption Precedes Contractile Dysfunction in Hypertrophic Cardiomyopathy Caused by Pathogenic TNNT2 Gene Variants. Journal of the American Heart Association 2020 Apr 9 (8): e015316. Parbhudayal Rahana Y, Harms Hendrik J, Michels Michelle, van Rossum Albert C, Germans Tjeerd, van der Velden Jolan |
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients. Circulation. Genomic and precision medicine 2020 8 13 (5): 424-434. Pua Chee Jian, Tham Nevin, Chin Calvin W L, Walsh Roddy, Khor Chiea Chuen, Toepfer Christopher N, Repetti Giuliana G, Garfinkel Amanda C, Ewoldt Jourdan F, Cloonan Paige, Chen Christopher S, Lim Shi Qi, Cai Jiashen, Loo Li Yang, Kong Siew Ching, Chiang Charleston W K, Whiffin Nicola, de Marvao Antonio, Lio Pei Min, Hii An An, Yang Cheng Xi, Le Thu Thao, Bylstra Yasmin, Lim Weng Khong, Teo Jing Xian, Padilha Kallyandra, Silva Gabriela V, Pan Bangfen, Govind Risha, Buchan Rachel J, Barton Paul J R, Tan Patrick, Foo Roger, Yip James W L, Wong Raymond C C, Chan Wan Xian, Pereira Alexandre C, Tang Hak Chiaw, Jamuar Saumya Shekhar, Ware James S, Seidman Jonathan G, Seidman Christine E, Cook Stuart |
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, |
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 |
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients. Human genetics 2016 Mar . Mouton J M, van der Merwe L, Goosen A, Revera M, Brink P A, Moolman-Smook J C, Kinnear |
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 |
[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 |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. American heart journal 2013 Oct 166 (4): 775-82. Marsiglia Julia Daher Carneiro, Credidio Flávia Laghi, de Oliveira Théo Gremen Mimary, Reis Rafael Ferreira, Antunes Murillo de Oliveira, de Araujo Aloir Queiroz, Pedrosa Rodrigo Pinto, Barbosa-Ferreira João Marcos Bemfica, Mady Charles, Krieger José Eduardo, Arteaga-Fernandez Edmundo, Pereira Alexandre da Cos |
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 |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (9): 2358-65. Núñez Lucía, Gimeno-Blanes Juan Ramón, Rodríguez-García María Isabel, Monserrat Lorenzo, Zorio Esther, Coats Caroline, McGregor Christopher G, Hernandez del Rincón Juan Pedro, Castro-Beiras Alfonso, Hermida-Prieto Manu |
[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. Arquivos brasileiros de cardiologia 2010 Jan 94 (1): 10-7. Marsiglia Júlia Daher Carneiro, Batitucci Maria do Carmo Pimentel, Paula Flávia de, Barbirato Clara, Arteaga Edmundo, Araújo Aloir Queiroz |
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 |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Revista española de cardiología 2009 Jan 62 (1): 48-56. García-Castro Mónica, Coto Eliecer, Reguero Julián R, Berrazueta José R, Alvarez Victoria, Alonso Belén, Sainz Rocío, Martín María, Morís Ces |
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 |
Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circulation research 2007 Mar 100 (6): 766-8. Osio Adriana, Tan Lily, Chen Suet N, Lombardi Raffaella, Nagueh Sherif F, Shete Sanjay, Roberts Robert, Willerson James T, Marian Ali |
[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 |
The role of a common TNNT2 polymorphism in cardiac hypertrophy. Journal of human genetics 2004 49 (3): 129-33. Komamura Kazuo, Iwai Naoharu, Kokame Koichi, Yasumura Yoshio, Kim Jiyoong, Yamagishi Masakazu, Morisaki Takayuki, Kimura Akinori, Tomoike Hitonobu, Kitakaze Masafumi, Miyatake Kun |
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 |
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- Page last updated:Mar 20, 2023
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