Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing
出版年份 2019 全文链接
标题
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing
作者
关键词
-
出版物
PEDIATRIC CARDIOLOGY
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-11-11
DOI
10.1007/s00246-019-02240-x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
- (2018) Ray E. Hershberger et al. JOURNAL OF CARDIAC FAILURE
- A novel familial truncating mutation in the filamin C gene associated with cardiac arrhythmias
- (2018) Kevin D. Mangum et al. European Journal of Medical Genetics
- Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
- (2016) Martín F. Ortiz-Genga et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
- (2014) Rathi Prasad et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
- (2014) Rafael Valdés-Mas et al. Nature Communications
- The RASopathies
- (2013) Katherine A. Rauen Annual Review of Genomics and Human Genetics
- Next-generation sequencing to identify genetic causes of cardiomyopathies
- (2012) Nadine Norton et al. CURRENT OPINION IN CARDIOLOGY
- Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation
- (2012) Steven J. Kindel et al. JOURNAL OF CARDIAC FAILURE
- Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy
- (2011) Dirk Sibbing et al. EUROPEAN HEART JOURNAL
- 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy
- (2011) Bernard J. Gersh et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- The 2006 American Heart Association Classification of Cardiomyopathies Is Not the Gold Standard
- (2008) Perry Elliott Circulation-Heart Failure
- Regression Equations for Calculation of Z Scores of Cardiac Structures in a Large Cohort of Healthy Infants, Children, and Adolescents: An Echocardiographic Study
- (2008) Michael D. Pettersen et al. JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now