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Records 1-14

Query Trace: Genetic Diseases, Inborn and MYBPC3[orginal query]

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. Arquivos brasileiros de cardiologia 2016 Sep 107 (3): 257-265. Mattos Beatriz Piva E, Scolari Fernando Luís, Torres Marco Antonio Rodrigues, Simon Laura, Freitas Valéria Centeno de, Giugliani Roberto, Matte Úrsu Similar articles in PubMed
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 Similar articles in PubMed
MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults. Journal of electrocardiology 2016 Mar . Fernlund E, Liuba P, Carlson J, Platonov P G, Schlegel T Similar articles in PubMed
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 Similar articles in PubMed
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. Heart and vessels 2015 Mar 30 (2): 258-64. Tian Tao, Wang Jizheng, Wang Hu, Sun Kai, Wang Yilu, Jia Lei, Zou Yubao, Hui Rutai, Zhou Xianliang, Song L Similar articles in PubMed
Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models. American journal of physiology. Heart and circulatory physiology 2014 Dec 307 (11): H1594-604. Hodatsu Akihiko, Konno Tetsuo, Hayashi Kenshi, Funada Akira, Fujita Takashi, Nagata Yoji, Fujino Noboru, Kawashiri Masa-Aki, Yamagishi Masaka Similar articles in PubMed
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy. The American journal of cardiology 2014 Sep 114 (5): 769-76. Biagini Elena, Olivotto Iacopo, Iascone Maria, Parodi Maria I, Girolami Francesca, Frisso Giulia, Autore Camillo, Limongelli Giuseppe, Cecconi Massimiliano, Maron Barry J, Maron Martin S, Rosmini Stefania, Formisano Francesco, Musumeci Beatrice, Cecchi Franco, Iacovoni Attilio, Haas Tammy S, Bacchi Reggiani Maria L, Ferrazzi Paolo, Salvatore Francesco, Spirito Paolo, Rapezzi Claud Similar articles in PubMed
Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents: A 12 Year Follow-Up Study of Clinical Screening and Predictive Genetic Testing. Circulation 2012 Nov . Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H Similar articles in PubMed
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. European heart journal 2010 Apr 31 (7): 842-8. Christiaans Imke, Birnie Erwin, van Langen Irene M, van Spaendonck-Zwarts Karin Y, van Tintelen J Peter, van den Berg Maarten P, Atsma Douwe E, Helderman-van den Enden Apollonia T J M, Pinto Yigal M, Hermans-van Ast J F, Bonsel Gouke J, Wilde Arthur A Similar articles in PubMed
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 436-41. Kaski Juan Pablo, Syrris Petros, Esteban Maria Teresa Tome, Jenkins Sharon, Pantazis Antonios, Deanfield John E, McKenna William J, Elliott Perry Similar articles in PubMed
Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. JACC. Cardiovascular imaging 2009 Jan 2 (1): 58-64. Michels Michelle, Soliman Osama I I, Kofflard Marcel J, Hoedemaekers Yvonne M, Dooijes Dennis, Majoor-Krakauer Danielle, ten Cate Folkert Similar articles in PubMed
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006 Jun 113 (23): 2697-705. Morita Hiroyuki, Larson Martin G, Barr Scott C, Vasan Ramachandran S, O'Donnell Christopher J, Hirschhorn Joel N, Levy Daniel, Corey Diane, Seidman Christine E, Seidman J G, Benjamin Emelia Similar articles in PubMed
MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. Biochemical and biophysical research communications 2005 Apr 329 (2): 796-9. Wang Ping, Zou Yubao, Fu Chunyan, Zhou Xianliang, Hui Rut Similar articles in PubMed
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. European heart journal 2003 Oct 24 (20): 1848-53. Alders Marielle, Jongbloed Roselie, Deelen Wout, van den Wijngaard Arthur, Doevendans Pieter, Ten Cate Folkert, Regitz-Zagrosek Vera, Vosberg Hans Peter, van Langen Irene, Wilde Arthur, Dooijes Dennis, Mannens Marc Similar articles in PubMed

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