Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
about
Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death CasesCatecholaminergic polymorphic ventricular tachycardia: An exciting new eraDeterminants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromesInherited ion channel diseases: a brief review2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of theA novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia.Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry.Impact of genetics on the clinical management of channelopathies.Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function.Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia PatientsAccelerated sinus rhythm prevents catecholaminergic polymorphic ventricular tachycardia in mice and in patients.Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genetic testing for inherited cardiac disease.The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases.Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target?Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia.Effect of flecainide derivatives on sarcoplasmic reticulum calcium release suggests a lack of direct action on the cardiac ryanodine receptor.Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca2+ release termination and diminishes protein expression.R4496C RyR2 mutation impairs atrial and ventricular contractility.The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation.A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics.Executive Summary: HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia SyndromesHRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes
P2860
Q26745883-D3A71084-CDAD-4A72-99E0-82F8D868647AQ26747056-301190CE-68E7-4159-9A39-B802117FDB6DQ27030767-CC3B6064-8358-49E5-8770-1CF2CD06CD30Q28071914-7649DB93-BF72-4033-A660-BC8C00058A4FQ28087002-5BED90F2-294E-442C-99D2-87ECF322F731Q33164590-262EE5A0-1531-41C4-9AF0-26AF67F85591Q33165339-5D751478-2D37-4620-A2FD-0E685DF3C621Q34036797-C415D488-0FD7-4599-9F8F-AA3CBB21BFE3Q35279976-98235DA1-81CD-4FF7-98FE-E1A3B6CA6BE5Q35675536-F470F54D-8440-49CF-ADB9-D4C3DB90D858Q36696236-F8336F7E-394A-49EA-BCEF-7C1AE3A9A822Q36994901-C814DAC1-7F52-4CBD-BC18-FBCEAEF8D605Q37187461-405576B4-981A-4AB4-9EC5-4BC34ED6C387Q38125385-558E564D-8544-42F6-A2CD-8193306AC0EEQ38197734-CBBA3117-EC5B-473A-A3ED-29F20CE2E900Q38238961-B2F10723-4848-4825-9E06-6929DC71D240Q39022381-90E4B498-8C25-47A2-B99B-65F5FC8ACEC1Q39727420-01943DD1-5D6F-4FD2-B9A4-FA60EA8F97AAQ42128337-96CC585F-6B61-4552-BB39-B652D0F9DAB3Q42367519-D087862E-73C8-4476-9713-7FE236EF75E6Q43115122-86778B4C-479D-4551-9D8F-CC3028E67802Q44819523-0174CDCC-2EFA-41F4-A52B-A09C416904ECQ45027885-F482BD50-175A-43DF-B8D6-6117936604F9Q48105793-E5A99862-1760-4BF6-90E8-DE97B62521F2Q49574372-98D4B10C-19A7-41BB-8821-5566296A5324Q51518257-9D3F8692-D87A-4EAE-91AC-16357B82A926Q53227880-03BE4C06-747E-48EC-8D8E-88C8480D4A01Q58010261-A9651B3F-DF99-49B2-AEC0-8D2997D1D3ACQ58010282-AA9469C2-0CED-41B4-A732-0C484597C114
P2860
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Familial evaluation in catecho ...... r mutation-carrying relatives.
@ast
Familial evaluation in catecho ...... r mutation-carrying relatives.
@en
type
label
Familial evaluation in catecho ...... r mutation-carrying relatives.
@ast
Familial evaluation in catecho ...... r mutation-carrying relatives.
@en
prefLabel
Familial evaluation in catecho ...... r mutation-carrying relatives.
@ast
Familial evaluation in catecho ...... r mutation-carrying relatives.
@en
P2093
P1476
Familial evaluation in catecho ...... r mutation-carrying relatives.
@en
P2093
A Marco W Alings
Christian van der Werf
Corné Ebink
Frank A Bracke
Freek van den Heuvel
Hans A Bosker
Hennie Bikker
Ineke Nederend
Ingrid M E Frohn-Mulder
J Peter van Tintelen
P304
P356
10.1161/CIRCEP.112.970517
P577
2012-07-10T00:00:00Z