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Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.
- Published in:
- EP: Europace, 2024, v. 26, n. 4, p. 1, doi. 10.1093/europace/euae069
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- Publication type:
- Article
Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia.
- Published in:
- EP: Europace, 2023, v. 25, n. 3, p. 1025, doi. 10.1093/europace/euac267
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- Publication type:
- Article
Comparing clinical performance of current implantable cardioverter-defibrillator implantation recommendations in arrhythmogenic right ventricular cardiomyopathy.
- Published in:
- 2022
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- Publication type:
- journal article
The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia: insights from the European Survey on Arrhythmogenic Cardiomyopathy.
- Published in:
- 2022
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- Publication type:
- journal article
Diagnosing arrhythmogenic right ventricular cardiomyopathy by 2010 Task Force Criteria: clinical performance and simplified practical implementation.
- Published in:
- 2020
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- Publication type:
- journal article
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4031, doi. 10.3390/ijms24044031
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- Publication type:
- Article
Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810765
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- Publication type:
- Article
Quantitative Approach to Fragmented QRS in Arrhythmogenic Cardiomyopathy: From Disease towards Asymptomatic Carriers of Pathogenic Variants.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 545, doi. 10.3390/jcm9020545
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- Publication type:
- Article
GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly.
- Published in:
- Cardiogenetics, 2023, v. 13, n. 3, p. 106, doi. 10.3390/cardiogenetics13030010
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- Publication type:
- Article
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
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- Publication type:
- Article
Screening of TGFBR 1, TGFBR 2, and FLNA in familial mitral valve prolapse.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 113, doi. 10.1002/ajmg.a.36211
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- Publication type:
- Article
Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 982, doi. 10.1002/ajmg.a.35343
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- Publication type:
- Article
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01221-3
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- Publication type:
- Article
Inflammation Aggravates Disease Severity in Marfan Syndrome Patients.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032963
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- Publication type:
- Article
Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction.
- Published in:
- European Heart Journal, 2021, v. 49, n. 29, p. 2842, doi. 10.1093/eurheartj/ehab294
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis.
- Published in:
- European Heart Journal, 2020, v. 41, n. 14, p. 1414, doi. 10.1093/eurheartj/ehz669
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- Publication type:
- Article
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
- Published in:
- European Heart Journal, 2020, v. 41, n. 14, p. 1393, doi. 10.1093/eurheartj/ehaa141
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- Publication type:
- Article
Meta-analysis of clinical characteristics of 299 carriers ofLMNAgene mutations: do lamin A/C mutations portend a high risk of sudden death?
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 1, p. 79, doi. 10.1007/s00109-004-0589-1
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- Publication type:
- Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
- Published in:
- Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
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- Publication type:
- Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
- Published in:
- Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
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- Publication type:
- Article
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
- Published in:
- Journal of Cardiovascular Electrophysiology, 2018, v. 29, n. 7, p. 1004, doi. 10.1111/jce.13621
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- Publication type:
- Article
A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1462, doi. 10.1038/ejhg.2015.10
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- Publication type:
- Article
Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.124
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- Publication type:
- Article
Clinical utility gene card for: Dilated Cardiomyopathy (CMD).
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.276
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- Publication type:
- Article
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
- Published in:
- European Heart Journal, 2011, v. 32, n. 9, p. 1161, doi. 10.1093/eurheartj/ehr092
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- Publication type:
- Article
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.
- Published in:
- European Heart Journal, 2010, v. 31, n. 7, p. 842, doi. 10.1093/eurheartj/ehp539
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- Publication type:
- Article
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.
- Published in:
- Cardiovascular Research, 2017, v. 113, n. 12, p. 1521, doi. 10.1093/cvr/cvx150
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- Publication type:
- Article
Pregnancy, cardiomyopathies, and genetics.
- Published in:
- Cardiovascular Research, 2014, v. 101, n. 4, p. 571, doi. 10.1093/cvr/cvu014
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- Publication type:
- Article
Genetic aspects of atrial fibrillation
- Published in:
- Cardiovascular Research, 2005, v. 67, n. 3, p. 414, doi. 10.1016/j.cardiores.2005.04.033
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- Publication type:
- Article
A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics
- Published in:
- Cardiovascular Research, 2003, v. 57, n. 4, p. 1072, doi. 10.1016/S0008-6363(02)00838-6
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- Publication type:
- Article
Gender differences in the long QT syndrome: effects of β-adrenoceptor blockade
- Published in:
- Cardiovascular Research, 2002, v. 53, n. 3, p. 770, doi. 10.1016/S0008-6363(01)00477-1
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- Publication type:
- Article
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy.
- Published in:
- Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 291, doi. 10.1007/s12471-023-01800-4
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- Publication type:
- Article
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
- Published in:
- Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 315, doi. 10.1007/s12471-023-01791-2
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- Publication type:
- Article
DNA Analysis in Inherited Cardiomyopathies: Current Status and Clinical Relevance.
- Published in:
- Pacing & Clinical Electrophysiology, 2008, v. 31, p. S46, doi. 10.1111/j.1540-8159.2008.00956.x
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- Publication type:
- Article
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 282, doi. 10.1093/brain/aws293
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- Publication type:
- Article
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.
- Published in:
- European Journal of Heart Failure, 2015, v. 17, n. 5, p. 484, doi. 10.1002/ejhf.255
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- Publication type:
- Article
Sex differences in cardiomyopathies.
- Published in:
- European Journal of Heart Failure, 2014, v. 16, n. 3, p. 238, doi. 10.1002/ejhf.15
- By:
- Publication type:
- Article
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Counsel the genotype, treat the phenotype.
- Published in:
- European Journal of Heart Failure, 2011, v. 13, n. 11, p. 1159, doi. 10.1093/eurjhf/hfr131
- By:
- Publication type:
- Article
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity?
- Published in:
- European Journal of Heart Failure, 2010, v. 12, n. 12, p. 1297, doi. 10.1093/eurjhf/hfq175
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- Publication type:
- Article
Lamin A/C-related cardiac disease and pregnancy.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
A sodium-channel mutation causes isolated cardiac conduction disease.
- Published in:
- Nature, 2001, v. 409, n. 6823, p. 1043, doi. 10.1038/35059090
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- Publication type:
- Article
Blood‐based biomarkers for the prediction of hypertrophic cardiomyopathy prognosis: a systematic review and meta‐analysis.
- Published in:
- ESC Heart Failure, 2022, v. 9, n. 5, p. 3418, doi. 10.1002/ehf2.14073
- By:
- Publication type:
- Article
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.518
- By:
- Publication type:
- Article
Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66656-9
- By:
- Publication type:
- Article