Hypertrophic cardiomyopathy UPDATE: July 28 - August 4, 2016 || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



July 28 - August 4, 2016 


Last Updated: Jul 28, 2016

• Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
  Garcia John et al. Frontiers in cardiovascular medicine 2016 320
• MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
  Fiorillo C, et al. Orphanet journal of rare diseases 2016 0 (1) 91
• A Long Term Follow-up Study of Carriers of Hypertrophic Cardiomyopathy Mutations.
  McTaggart Don R, et al. Heart, lung & circulation 2016 5
• Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran.
  Emrahi Leila, et al. Clinical laboratory 2016 0 (5) 757-64
• Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy.
  Tarkiainen Mika, et al. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2016 0 (1) 33
• [The pathogenic gene screening in a cardiomyopathy pedigree of Yunnan province].
  Xiang H, et al. Zhonghua xin xue guan bing za zhi 2016 5 (5) 416-20
• Common miR-590 Variant rs6971711 Present Only in African Americans Reduces miR-590 Biogenesis.
  Lin Xiaoping, et al. PloS one 2016 0 (5) e0156065
• Family communication in a population at risk for hypertrophic cardiomyopathy.
  Batte Brittany et al. Journal of genetic counseling 2015 Apr 24(2) 336-48
• Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
  Saghafi Hoorieh, et al. Iranian journal of public health 2016 3 (3) 329-39
• NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
  Roucher-Boulez Florence, et al. European journal of endocrinology / European Federation of Endocrine Societies 2016 4
• Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
  Zhao Yue, et al. International journal of molecular medicine 2016 4
• MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults.
  Fernlund E, et al. Journal of electrocardiology 2016 3
• Aortic Stiffness in Youth with Hypertrophic Cardiomyopathy Genotype.
  Zachariah Justin P, et al. Pediatric cardiology 2016 4
• MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
  Mouton J M, et al. Human genetics 2016 3
• [Mutation and clinical relevance in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy].
  Jie Liu, et al. Zhonghua xin xue guan bing za zhi 2015 8 (8) 682-9

• Human (241)
• Pathogen (0)

• Human (16)
• Pathogen (0)

• Guidelines (3)
• Tier Table (0)
• Synthesis (0)

• Huamn (2)
• Pathogen (0)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB