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Andrew R. Harper et al.
NATURE GENETICS (2021)
] Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
Berglind Adalsteinsdottir et al.
OPEN HEART (2020)
Standardized image interpretation and post-processing in cardiovascular magnetic resonance-2020 update Society for Cardiovascular Magnetic Resonance (SCMR): Board of Trustees Task Force on Standardized Post-Processing
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JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE (2020)
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Rebeca Lorca et al.
REVISTA ESPANOLA DE CARDIOLOGIA (2019)
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Martin S. Maron et al.
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NEW ENGLAND JOURNAL OF MEDICINE (2018)
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
Carolyn Y. Ho et al.
CIRCULATION (2018)
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
Irene Mademont-Soler et al.
PLOS ONE (2017)
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Andrea D. Thompson et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease
Gloria T. Haskell et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
Hypertrophic Cardiomyopathy Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Ali J. Marian et al.
CIRCULATION RESEARCH (2017)
MEGA7: Molecular Evolutionary Genetics Analysis Version 7.0 for Bigger Datasets
Sudhir Kumar et al.
MOLECULAR BIOLOGY AND EVOLUTION (2016)
Nueva mutación fundadora en MYBPC3: comparación fenotípica con la mutación de MYBPC3 más frecuente en España
María Sabater-Molina et al.
REVISTA ESPANOLA DE CARDIOLOGIA (2016)
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Ahmed A. Alfares et al.
GENETICS IN MEDICINE (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Gender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations
Yasunobu Terauchi et al.
JOURNAL OF CARDIOLOGY (2015)
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life
Chiara Calore et al.
JOURNAL OF MEDICAL GENETICS (2015)
Structural Characterization of the C3 Domain of Cardiac Myosin Binding Protein C and Its Hypertrophic Cardiomyopathy-Related R502W Mutant
Xiaolu Linda Zhang et al.
BIOCHEMISTRY (2014)
A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)
Constantinos O'Mahony et al.
EUROPEAN HEART JOURNAL (2014)
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)
Perry M. Elliott et al.
EUROPEAN HEART JOURNAL (2014)
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 Mutations in Sporadic Hypertrophic Cardiomyopathy
Lucia Nunez et al.
CIRCULATION JOURNAL (2013)
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
Carolien H. Teirlinck et al.
BMC MEDICAL GENETICS (2012)
Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy Disease Expression in Relation to Age, Gender, and Long Term Outcome
Stephen P. Page et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2012)
Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities
Saskia Schlossarek et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2011)
The Cardiac Myosin Binding Protein C Arg502Trp Mutation A Common Cause of Hypertrophic Cardiomyopathy
Adam J. Saltzman et al.
CIRCULATION RESEARCH (2010)
Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3
M. Jose Oliva-Sandoval et al.
HEART (2010)
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands
I. Christiaans et al.
NETHERLANDS HEART JOURNAL (2010)
Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac myosin-binding protein c gene among Japanese
T Kubo et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2005)
Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes
P Jaaskelainen et al.
ANNALS OF MEDICINE (2004)
A comparison of Bayesian methods for haplotype reconstruction from population genotype data
M Stephens et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)