Related references
Note: Only part of the references are listed.ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
A systematic approach to assessing the clinical significance of genetic variants
H. Duzkale et al.
CLINICAL GENETICS (2013)
Inherited Cardiomyopathies Molecular Genetics and Clinical Genetic Testing in the Postgenomic Era
Polakit Teekakirikul et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2013)
Communicating new knowledge on previously reported genetic variants
Samuel J. Aronson et al.
GENETICS IN MEDICINE (2012)
A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
Jodie Ingles et al.
HEART (2012)
Danon disease: focusing on heart
Zhongwei Cheng et al.
JOURNAL OF HUMAN GENETICS (2012)
Genetics of Hypertrophic Cardiomyopathy After 20 Years Clinical Perspectives
Barry J. Maron et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy
Daniel M. Jordan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
Bernard J. Gersh et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
The Cardiac Myosin Binding Protein C Arg502Trp Mutation A Common Cause of Hypertrophic Cardiomyopathy
Adam J. Saltzman et al.
CIRCULATION RESEARCH (2010)
DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
Sarah Wordsworth et al.
EUROPEAN HEART JOURNAL (2010)
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
Gilles Millat et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G→A)
Hsiang-Yu Lin et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications
Sivakumar Gowrisankar et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations
Francesca Girolami et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)
High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
Hsiang-Yu Lin et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2009)
Shared genetic causes of cardiac hypertrophy in children and adults
Hiroyuki Morita et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy
Lorenzo Monserrat et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2007)
Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy - A retrospective analysis from the Fabry outcome survey
Bjoern Hoffmann et al.
CLINICAL JOURNAL OF PAIN (2007)
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
K Mills et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Fabry disease: overall effects of agalsidase alfa treatment
M Beck et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2004)
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy
SL Van Driest et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2004)
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
M Alders et al.
EUROPEAN HEART JOURNAL (2003)
Alternative splicing in the α-galactosidase A gene:: Increased exon inclusion results in the Fabry cardiac phenotype
S Ishii et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
B Sachdev et al.
CIRCULATION (2002)
Hypertrophic cardiomyopathy - A systematic review
BJ Maron
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2002)
Share Paper
