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American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 703 - 712
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Medical genetics | Biological and medical sciences | Intensive care medicine | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Emergency and intensive care: neonates and children. Prematurity. Sudden death | Amino Acid Sequence | Calmodulin - genetics | Genetic Predisposition to Disease | Syncope - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Death, Sudden, Cardiac - etiology | Mutation, Missense | Young Adult | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Tachycardia, Ventricular - genetics | Adult | Chromosomes, Human, Pair 14 | Female | Heterozygote | Calcium Channels - genetics | Child | Arrhythmias, Cardiac - genetics | Gene mutations | Cardiac arrest | Causes of | Ventricular tachycardia | Genetic aspects | Research | Health aspects | Calmodulin | Heart attacks | Exercise | Genetic disorders | Mutation | Calcium | Chromosomes | Index Medicus | Report | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Heart rhythm, ISSN 1547-5271, 2011, Volume 8, Issue 11, pp. 1686 - 1695
Cardiovascular | ARVC | late enhancement | LVEF | left ventricular ejection fraction | multiple mutations | right ventricular outflow tract | RVOT | BSA | electrocardiogram | right ventricular end-diastolic volume | RVEDA | PLAX | right ventricular fraction shortening | parasternal long axis | LVEDV | signal-averaged electrocardiogram | PSAX | ventricular fibrillation | left ventricular end diastolic volume | right ventricular | right ventricular end-diastolic area | ECG | CMR | SAECG | parasternal short axis | ventricular tachycardia | RVFS | left ventricular, ventricle | RVEDV | arrhythmogenic right ventricular cardiomyopathy | premature ventricular complex | PVC | cardiac magnetic resonance | body surface area | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Diagnosis, Differential | Echocardiography | Prognosis | Follow-Up Studies | Humans | Male | Arrhythmogenic Right Ventricular Dysplasia - diagnosis | Arrhythmogenic Right Ventricular Dysplasia - genetics | Phenotype | Magnetic Resonance Imaging, Cine - methods | Desmosomes - genetics | DNA - analysis | DNA Mutational Analysis | Pedigree | Adolescent | Electrocardiography | Female | Retrospective Studies | Mutation | Child | Pediatrics | Gene mutations | Cardiomyopathy | Electrocardiogram | Genes | Genetic research | Genetic aspects | Diagnosis | Children | Heart diseases | Health aspects | Index Medicus | ARVC, arrhythmogenic right ventricular cardiomyopathy | RVOT, right ventricular outflow tract | MM, multiple mutations | RV, right ventricular | LVEF, left ventricular ejection fraction | PLAX, parasternal long axis | RVFS, right ventricular fraction shortening | Clinical | SAECG, signal-averaged electrocardiogram | VF, ventricular fibrillation | PSAX, parasternal short axis | RVEDV, right ventricular end-diastolic volume | PVC, premature ventricular complex | LVEDV, left ventricular end diastolic volume | BSA, body surface area | VT, ventricular tachycardia | ECG, electrocardiogram | RVEDA, right ventricular end-diastolic area | CMR, cardiac magnetic resonance | LE, late enhancement | LV, left ventricular, ventricle
Journal Article
Journal of electrocardiology, ISSN 0022-0736, 2016, Volume 50, Issue 2, pp. 227 - 233
Cardiovascular | Catecholaminergic polymorphic ventricular tachycardia | Sudden unexpected death | Arrhythmia | Left ventricular non-compaction | Ryanodine receptor-2 | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Genetic Predisposition to Disease - genetics | Genetic Testing | Tachycardia, Ventricular - complications | Genetic Association Studies | Humans | Male | Mutation - genetics | Young Adult | Heart Defects, Congenital - genetics | Heart Defects, Congenital - complications | Ryanodine Receptor Calcium Release Channel - genetics | Genetic Markers - genetics | Tachycardia, Ventricular - diagnosis | Polymorphism, Single Nucleotide - genetics | Tachycardia, Ventricular - genetics | Adult | Female | Heart Defects, Congenital - diagnosis | Ventricular tachycardia | Genetic aspects | Analysis | Caffeine | Cardiac arrhythmia | Cardiomyopathy | Genetic testing | Index Medicus
Journal Article
International journal of cardiology, ISSN 0167-5273, 01/2018, Volume 250, pp. 139 - 145
Idiopathic ventricular fibrillation | RYR2 | Genetics | Catecholaminergic polymorphic ventricular tachycardia | Genetic testing | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Ventricular Fibrillation - diagnosis | Humans | Middle Aged | Male | Mutation - genetics | Young Adult | Tachycardia, Ventricular - epidemiology | Tachycardia, Ventricular - diagnosis | Adolescent | Tachycardia, Ventricular - genetics | Ventricular Fibrillation - genetics | Adult | Female | Italy - epidemiology | Genetic Variation - genetics | Ventricular Fibrillation - epidemiology | Child | Finland - epidemiology | Sequence Analysis, DNA - methods | Cohort Studies | Heart | Medical research | Abnormalities | Cardiac patients | Medicine, Experimental | Ventricular tachycardia | Disease susceptibility | Medical screening | Muscle contraction | Index Medicus
Journal Article
Circulation research, ISSN 0009-7330, 09/2018, Volume 123, Issue 8, pp. 953 - 963
mutation | electrophysiology | gene editing | mice | allele | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Tachycardia, Ventricular - therapy | Dependovirus - genetics | Genetic Predisposition to Disease | Action Potentials - genetics | RNA, Guide - genetics | Heart Rate - genetics | Mice, Inbred C57BL | Mice, Transgenic | Ryanodine Receptor Calcium Release Channel - metabolism | CRISPR-Associated Protein 9 - genetics | Phenotype | Tachycardia, Ventricular - physiopathology | Animals | Ryanodine Receptor Calcium Release Channel - genetics | CRISPR-Cas Systems | Tachycardia, Ventricular - metabolism | Tachycardia, Ventricular - genetics | Gene Editing - methods | Mutation | Calcium Signaling - genetics | Genetic Vectors | Disease Models, Animal | Genetic Therapy - methods | Ventricular tachycardia | Genetic engineering | Genetic aspects | Research | Gene mutations | EF hand proteins | Index Medicus | CRISPR | arrhythmia | AAV | Catecholaminergic polymorphic ventricular tachycardia | gene therapy | Cas9 | ryanodine receptor | Arrhythmias
Journal Article
The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 61 - 72
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Tachycardia, Ventricular - therapy | Prognosis | Arrhythmogenic Right Ventricular Dysplasia - diagnostic imaging | Humans | Catheter Ablation | Death, Sudden, Cardiac - prevention & control | Arrhythmogenic Right Ventricular Dysplasia - therapy | Disease Progression | Arrhythmogenic Right Ventricular Dysplasia - genetics | Electrocardiography | Arrhythmogenic Right Ventricular Dysplasia - pathology | Mutation | Adrenergic beta-Antagonists - therapeutic use | Dysplasia | Diagnosis | Patients | Health aspects | Heart | Proteins | Cardiac muscle | Cardiomyopathy | Pathogenesis | Myocardium | Ventricle | Index Medicus | Abridged Index Medicus
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2012, Volume 59, Issue 5, pp. 493 - 500
lamin A/C | risk factors | sudden cardiac death | cardiomyopathy | implantable cardioverter-defibrillator | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | General aspects. Genetic counseling | Cardiac dysrhythmias | Medical genetics | Biological and medical sciences | Medical sciences | Severity of Illness Index | Genetic Predisposition to Disease | Follow-Up Studies | Humans | Middle Aged | Risk Factors | Europe - epidemiology | Male | Lamin Type A - metabolism | Incidence | DNA - genetics | Tachycardia, Ventricular - epidemiology | DNA Mutational Analysis | Lamin Type A - genetics | Tachycardia, Ventricular - metabolism | Tachycardia, Ventricular - genetics | Adult | Female | Retrospective Studies | Mutation | Index Medicus | Abridged Index Medicus
Journal Article
Journal of cardiovascular electrophysiology, ISSN 1045-3873, 12/2013, Volume 24, Issue 12, pp. 1311 - 1320
phenotype | magnetic resonance imaging | implantable cardioverter defibrillator | electroanatomic mapping | genetics | arrhythmogenic right ventricular dysplasia/cardiomyopathy | ventricular tachcardia | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Predictive Value of Tests | Humans | Middle Aged | Catheter Ablation | Male | Arrhythmogenic Right Ventricular Dysplasia - physiopathology | Action Potentials | Arrhythmogenic Right Ventricular Dysplasia - genetics | Young Adult | Netherlands | Arrhythmogenic Right Ventricular Dysplasia - surgery | Cicatrix - physiopathology | Tachycardia, Ventricular - genetics | Adult | Female | Registries | Arrhythmogenic Right Ventricular Dysplasia - pathology | Heart Ventricles - pathology | Genetic Predisposition to Disease | Treatment Outcome | Magnetic Resonance Imaging | Phenotype | Tachycardia, Ventricular - physiopathology | Baltimore | Tachycardia, Ventricular - surgery | Heart Ventricles - physiopathology | Heart Ventricles - surgery | Tachycardia, Ventricular - pathology | Cicatrix - pathology | Mutation | Electrophysiologic Techniques, Cardiac | Dysplasia | Genetic aspects | Electrocardiography | Index Medicus
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2014, Volume 64, Issue 24, pp. 2589 - 2600
Cardiovascular | Internal Medicine | end-stage | diastolic function | troponin | triphasic filling | genotype to phenotype correlation | correlation triphasic filling troponin | genotype to phenotype | diastolic function end-stage | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Myocarditis. Cardiomyopathies | Medical sciences | Follow-Up Studies | Humans | Middle Aged | Male | Cardiomyopathy, Hypertrophic - complications | Death, Sudden, Cardiac - etiology | Ventricular Fibrillation - etiology | Ventricular Outflow Obstruction - etiology | Actins - genetics | Ventricular Dysfunction, Left - genetics | Ventricular Fibrillation - genetics | Adult | Female | Heart Function Tests | Actin Cytoskeleton - genetics | Severity of Illness Index | Troponin T - genetics | Ventricular Outflow Obstruction - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | MAP Kinase Kinase Kinases - genetics | Ventricular Dysfunction, Left - etiology | Patient Outcome Assessment | Cardiomyopathy, Hypertrophic - diagnosis | Disease Progression | Cardiomyopathy, Hypertrophic - physiopathology | Italy | Mutation | Sects | Genetic aspects | Cardiomyopathy, Hypertrophic | Gene mutations | Medical research | Tachycardia | Actin | Genes | Myosin | Medicine, Experimental | Protein binding | Heart attacks | Cardiology | Drug therapy | Clinical outcomes | Index Medicus | Abridged Index Medicus | MYH7, myosin heavy chain | TNNT2, cardiac troponin T gene | HR, hazard ratio | SCD, sudden cardiac death | ICD, implantable cardioverter-defibrillator | TPM1, cardiac α-tropomyosin gene | LVH, left ventricular hypertrophy | MYBPC3, myosin binding protein C | LV, left ventricular | ECG, electrocardiography | LGE, late gadolinium enhancement | AF, atrial fibrillation | NSVT, nonsustained ventricular tachycardia | ACTC, cardiac α-actin gene | Original Investigation | CMR, cardiac magnetic resonance | HCM, hypertrophic cardiomyopathy | TNNI3, cardiac troponin I gene | NYHA, New York Heart Association
Journal Article