Detalhe da pesquisa
1.
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
Biochem Biophys Res Commun
; 714: 149947, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38657442
2.
Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening.
Biochemistry (Mosc)
; 89(3): 543-552, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38648771
3.
ISE/ISHNE Expert Consensus Statement on ECG Diagnosis of Left Ventricular Hypertrophy: The Change of the Paradigm. The joint paper of the International Society of Electrocardiology and the International Society for Holter Monitoring and Noninvasive Electrocardiology.
J Electrocardiol
; 81: 85-93, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647776
4.
Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.
Int J Mol Sci
; 24(15)2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569730
5.
Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome.
Int J Mol Sci
; 23(14)2022 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887302
6.
De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
Int J Mol Sci
; 24(1)2022 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613463
7.
New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.
BMC Med Genet
; 21(1): 73, 2020 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32252658
8.
Comparative Characterization of the Expression Profiles of Cardiac Kv7.1 Channels Containing Two Rare Genetic Variants.
Microsc Microanal
; 29(Supplement_1): 1118-1119, 2023 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37613226
9.
The role of mutations in the SCN5A gene in cardiomyopathies.
Biochim Biophys Acta
; 1863(7 Pt B): 1799-805, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26916278
10.
Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.
J Cardiovasc Electrophysiol
; 24(9): 1037-46, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692053
11.
Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy.
Genes (Basel)
; 14(7)2023 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510237
12.
Different Phenotypes of Sarcomeric MyBPC3-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis).
Genes (Basel)
; 13(8)2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36011256
13.
Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.
Genes (Basel)
; 13(4)2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456383
14.
Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome.
Front Pharmacol
; 13: 984299, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36091819
15.
Modified chordal sparing mitral valve replacement as effective technique for both stenotic and insufficient mitral valves.
J Cardiovasc Surg (Torino)
; 63(4): 498-506, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35848870
16.
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Genes (Basel)
; 13(4)2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456365
17.
Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.
Front Genet
; 12: 620337, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33633783
18.
Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation.
Front Genet
; 12: 722291, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34552620
19.
Scintigraphy false-positive results for cardiac amyloidosis in a patient with Danon disease.
Clin Case Rep
; 9(8): e04652, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34430015
20.
Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome.
BMJ Case Rep
; 13(8)2020 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843460