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Myocardial Fas Ligand Expression Increases Susceptibility to AZT-Induced Cardiomyopathy.
- Published in:
- Cardiovascular Toxicology, 2007, v. 7, n. 4, p. 255, doi. 10.1007/s12012-007-9004-9
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- Article
Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis.
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- Nephrology Dialysis Transplantation, 2019, v. 34, n. 11, p. 1924, doi. 10.1093/ndt/gfy191
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- Article
Phosphorylation of Lamin A/C at serine 22 modulates Na<sub>v</sub>1.5 function.
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- Physiological Reports, 2021, v. 9, n. 22, p. 1, doi. 10.14814/phy2.15121
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- Article
Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1460
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- Article
Lamin-A/C variants found in patients with cardiac conduction disease reduce sodium currents.
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- Cardiogenetics, 2018, v. 8, n. 1, p. 4, doi. 10.4081/cardiogenetics.2018.7127
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- Article
A post mortem assessment of a 25-year-old man with ascending aortic dissection and a novel MYLK variant.
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- Cardiogenetics, 2015, v. 5, n. 1, p. 13, doi. 10.4081/cardiogenetics.2015.5251
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- Article
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3182, doi. 10.1002/ajmg.a.36178
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- Article
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3030, doi. 10.1002/ajmg.a.33856
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- Article
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.
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- Scientific Reports, 2016, p. 38776, doi. 10.1038/srep38776
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- Article
Genetic testing outcomes in a cohort of 21,159 children with heart disease.
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- Cardiology in the Young, 2022, v. 32, p. S3
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- Article
Genetic testing outcomes in a cohort of 21,159 children with heart disease.
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- Cardiology in the Young, 2022, v. 32, n. S2, p. S3, doi. 10.1017/S1047951122001950
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- Article
Clinical characterisation of a novel variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.
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- 2019
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- Publication type:
- journal article
Altered expression of dystrophin within the thoracic aorta in coarctation.
- Published in:
- Cardiology in the Young, 2005, v. 15, n. 1, p. 73, doi. 10.1017/S1047951105000144
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- Publication type:
- Article
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143588
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- Publication type:
- Article
ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092259
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- Publication type:
- Article
Myocardial Alternative RNA Splicing and Gene Expression Profiling in Early Stage Hypoplastic Left Heart Syndrome.
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- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029784
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- Article
Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy.
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- Human Genetics, 2003, v. 112, n. 3, p. 227, doi. 10.1007/s00439-002-0857-5
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- Article
Genetic Modulation of Brugada Syndrome by a Common Polymorphism.
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- Journal of Cardiovascular Electrophysiology, 2009, v. 20, n. 10, p. 1137, doi. 10.1111/j.1540-8167.2009.01508.x
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- Article
A Common SCN5A Variant Alters the Responsiveness of Human Sodium Channels to Class I Antiarrhythmic Agents.
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- Journal of Cardiovascular Electrophysiology, 2007, v. 18, n. 4, p. 434, doi. 10.1111/j.1540-8167.2007.00777.x
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- Article
Phenotypic Characterization of a Large European Family with Brugada Syndrome Displaying a Sudden Unexpected Death Syndrome Mutation in SCN5A: Female Predominance in the Signs and Symptoms of the Disease.
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- Journal of Cardiovascular Electrophysiology, 2004, v. 15, n. 1, p. 64, doi. 10.1046/j.1540-8167.2004.03341.x
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- Article
Arrhythmogenic right ventricular cardiomyopathy: a ‘final common pathway’ that defines clinical phenotypeThe opinions expressed in this article are not necessarily those of the Editors of the European Heart Journal or of the European Society of ...
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- European Heart Journal, 2007, v. 28, n. 5, p. 529
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- Article
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
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- Cardiovascular Research, 2009, v. 83, n. 1, p. 80, doi. 10.1093/cvr/cvp119
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- Article
Clinical Application of Whole-Exome Sequencing.
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- JAMA Neurology, 2013, v. 70, n. 6, p. 788, doi. 10.1001/jamaneurol.2013.247
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- Article
Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Na<sub>v</sub>1.5 currents in HEK‐293 cells.
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- Pacing & Clinical Electrophysiology, 2020, v. 43, n. 8, p. 838, doi. 10.1111/pace.13996
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- Article
A Nonsense SCN5A Mutation Associated with Brugada-Type Electrocardiogram and Intraventricular Conduction Defects.
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- Pacing & Clinical Electrophysiology, 2009, v. 32, n. 9, p. 1231, doi. 10.1111/j.1540-8159.2009.02470.x
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- Article
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
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- Pediatric Cardiology, 2022, v. 43, n. 3, p. 616, doi. 10.1007/s00246-021-02764-1
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- Article
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.924
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- Article
APOL1 G3 Variant Is Associated with Cardiovascular Mortality and Sudden Cardiac Death in Patients Receiving Maintenance Hemodialysis of European Ancestry.
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- CardioRenal Medicine, 2022, v. 12, n. 5/6, p. 229, doi. 10.1159/000525448
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- Article
The Contribution of Known Familial Cardiovascular Disease Genes to Sudden Cardiac Death in Patients Undergoing Hemodialysis.
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- CardioRenal Medicine, 2021, v. 11, n. 4, p. 174, doi. 10.1159/000517123
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- Article
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.
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- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161872
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- Article
Correction: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
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- 2016
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- Correction Notice
The Genetics of Cardiac Arrhythmias.
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- Pacing & Clinical Electrophysiology, 2000, v. 23, n. 1, p. 106, doi. 10.1111/j.1540-8159.2000.tb00655.x
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- Publication type:
- Article
Fibroblast Growth Factor 23 Genotype and Cardiovascular Disease in Patients Undergoing Hemodialysis.
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- 2019
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- Publication type:
- journal article
A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset.
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- Journal of Child Neurology, 2012, v. 27, n. 6, p. 811, doi. 10.1177/0883073811435246
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- Article
Left Ventricular Non Compaction in Children.
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- Congenital Heart Disease, 2010, v. 5, n. 5, p. 384, doi. 10.1111/j.1747-0803.2010.00446.x
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- Article
Danon Disease as a Cause of Autophagic Vacuolar Myopathy.
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- Congenital Heart Disease, 2007, v. 2, n. 6, p. 404, doi. 10.1111/j.1747-0803.2007.00132.x
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- Article
Factor XIII Val34Leu polymorphism and recurrent myocardial infarction in patients with coronary artery disease.
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- Journal of Thrombosis & Thrombolysis, 2014, v. 38, n. 3, p. 380, doi. 10.1007/s11239-014-1059-4
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- Article
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
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- Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
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- Article
Genetic and biophysical basisof sudden unexplained nocturnal death syndrome (SUNDS), a diseaseallelic to Brugada syndrome.
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- Human Molecular Genetics, 2002, v. 11, n. 3, p. 337, doi. 10.1093/hmg/11.3.337
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- Article
A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 73
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- Publication type:
- Article
Clinical characteristics and 12-month outcomes of patients with valvular and non-valvular atrial fibrillation in Kenya.
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- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185204
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- Article