Found: 27
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Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening.
- Published in:
- Biochemistry (00062979), 2024, v. 89, n. 3, p. 543, doi. 10.1134/S000629792403012X
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- Article
Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 01, doi. 10.3389/fphar.2022.984299
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- Article
Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A : A Potential Source of Misinterpretation.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.722291
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- Publication type:
- Article
Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.620337
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- Article
De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 18, doi. 10.3390/ijms24010018
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- Publication type:
- Article
Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 7953, doi. 10.3390/ijms23147953
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- Article
Comparative Characterization of the Expression Profiles of Cardiac Kv7.1 Channels Containing Two Rare Genetic Variants.
- Published in:
- 2023
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- Abstract
Novel Kv7.1 missense mutation Lys422Glu leads to the development of LQT syndrome.
- Published in:
- 2021
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- Publication type:
- Abstract
Novel Kv7.1 missense mutation Lys422Glu leads to the development of LQT syndrome.
- Published in:
- 2021
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- Publication type:
- Abstract
Three Myocardial Diseases in One Heart: Arrhythmogenic Right Ventricular Cardiomyopathy, Left Ventricular Noncompaction and Myocarditis.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 1, p. 18, doi. 10.3390/cardiogenetics11010003
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- Article
Characterization of 2 Genetic Variants of Na<sub>v</sub>1.5-Arginine 689 Found in Patients with Cardiac Arrhythmias.
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- Journal of Cardiovascular Electrophysiology, 2013, v. 24, n. 9, p. 1037, doi. 10.1111/jce.12173
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- Publication type:
- Article
Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time.
- Published in:
- Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.579450
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- Publication type:
- Article
New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01001-5
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- Article
Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52911-1
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- Article
Scintigraphy false-positive results for cardiac amyloidosis in a patient with Danon disease.
- Published in:
- 2021
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- Case Study
Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome.
- Published in:
- Biomedical Reports, 2020, v. 13, n. 3, p. N.PAG, doi. 10.3892/br.2020.1324
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- Publication type:
- Article
Simultaneous Non-Invasive Epicardial and Endocardial Mapping in Patients With Brugada Syndrome: New Insights Into Arrhythmia Mechanisms.
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- Journal of the American Heart Association, 2016, v. 5, n. 11, p. 1, doi. 10.1161/JAHA.116.004095
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- Publication type:
- Article
Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype.
- Published in:
- Biomedicines, 2024, v. 12, n. 10, p. 2410, doi. 10.3390/biomedicines12102410
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- Publication type:
- Article
ISE/ISHNE expert consensus statement on the ECG diagnosis of left ventricular hypertrophy: The change of the paradigm.
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- Annals of Noninvasive Electrocardiology, 2024, v. 29, n. 1, p. 1, doi. 10.1111/anec.13097
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- Article
Editorial: Inherited Arrhythmias of the Cardiac Sodium Channel Na<sub>v</sub>1.5.
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- 2021
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- Publication type:
- Editorial
Post-COVID Myocarditis in Patients with Primary Cardiomyopathies: Diagnosis, Clinical Course and Outcomes.
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- Genes, 2024, v. 15, n. 8, p. 1062, doi. 10.3390/genes15081062
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- Publication type:
- Article
Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5 -Related Distal Myopathy.
- Published in:
- 2023
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- Publication type:
- Case Study
Different Phenotypes of Sarcomeric MyBPC3 -Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis).
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1344, doi. 10.3390/genes13081344
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- Publication type:
- Article
Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.
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- Genes, 2022, v. 13, n. 4, p. 577, doi. 10.3390/genes13040577
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- Publication type:
- Article
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
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- Genes, 2022, v. 13, n. 4, p. 559, doi. 10.3390/genes13040559
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- Publication type:
- Article
Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12359, doi. 10.3390/ijms241512359
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- Publication type:
- Article
Differences in the Rate and Yield of Genetic Testing in Patients with Brugada Syndrome: A Systematic Review and Analysis of Cohort Studies.
- Published in:
- Annals of Clinical Cardiology, 2023, v. 5, n. 1, p. 11, doi. 10.4103/ACCJ.ACCJ_10_22
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- Publication type:
- Article