HuGE Literature Finder
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| 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 |
| Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
| 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 |
| 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 |
| High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PloS one 2017 12 12 (12): e0189489. Klauke Baerbel, Gaertner-Rommel Anna, Schulz Uwe, Kassner Astrid, Zu Knyphausen Edzard, Laser Thorsten, Kececioglu Deniz, Paluszkiewicz Lech, Blanz Ute, Sandica Eugen, van den Bogaerdt Antoon J, van Tintelen J Peter, Gummert Jan, Milting Hendr |
| 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 |
| Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2016 12 31 (1): 1-7. Ruan Yan-Ping, Lu Chao-Xia, Zhao Xiao-Yi, Liang Rui-Juan, Lian Hui, Routledge Michael, Wu Wei, Zhang Xue, Fan Zhong-J |
| 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 |
| 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 |
| Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. BioMed research international 2015 2015 561819. 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 |
| 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 |
| High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. BMC medical genetics 2012 13 (1): 69. Rani Deepa Selvi, Nallari Pratibha, Priyamvada Singh, Narasimhan Calambur, Singh Lalji, Thangaraj Kumarasa |
| Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene. Legal medicine (Tokyo, Japan) 2010 Nov 12 (6): 280-3. Murakami Chikako, Nakamura Shigeki, Kobayashi Masamune, Maeda Kazuho, Irie Wataru, Wada Bunta, Hayashi Maiko, Sasaki Chizuko, Nakamaru Naomi, Furukawa Masataka, Kurihara Katsuyos |
| 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 |
| 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 |
| 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 31, 2023
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