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Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies
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Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child
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Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome
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Thanks to Reviewers
Alström syndrome, arrhythmia, cardiomyopathy.
Brugada syndrome, arrhythmia, genetics, double mutant, sodium channel.
atrium, cardiac surgery, haematopoietic progenitor cells, myxoma, trisomy.
cardiomyopathies, arrhythmia syndromes, splice mutations, molecular diagnosis.
cardiovascular research, bioinformatic approaches.
echocardiography, Fabry disease, cardiomyopathy.
education, cardiogenetics, endurance exercise, cardiovascular benefits.
education, familial hypertrophic cardiomyopathy phenotype, left ventricular systolic dysfunction, extensive myocardial fibrosis, cardiogenetics.
hypertrophic cardiomyopathy, HCM, gene expression, microarray.
idiopathic restrictive cardiomyopathy, hypertrophic cardiomyopathy, sarcomeric genes.
idiopathic ventricular fibrillation, cardiac arrest, gene mutation, Brugada syndrome.
inherited cardiac disease
mitochondrial DNA, respiratory chain deficiency, mitochondrial cardiomyopathy, T3258C, A3243G.
sequence capture, massively parallel sequencing, restrictive cardiomyopathy, desmin, missense mutation.
sudden cardiac death
Dossena, Cinzia, Laboratory of Molecular Cardiology, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management
- Review Articles
Sudden infant death syndrome and cardiac channelopathies: from mechanisms to prevention of avoidable tragedies
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