Detalhe da pesquisa
1.
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.
Hum Mutat
; 39(12): 1835-1846, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298955
2.
Association of Hydroxychloroquine With QTc Interval in Patients With COVID-19.
Circulation
; 142(5): 513-515, 2020 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32501756
3.
Evidence of Carotid Atherosclerosis Vulnerability Regression in Real Life From Magnetic Resonance Imaging: Results of the MAGNETIC Prospective Study.
J Am Heart Assoc
; 12(2): e026469, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36628977
4.
Unexpected impairment of INa underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome.
Nat Cardiovasc Res
; 2(12): 1291-1309, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665938
5.
Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing.
Heart Rhythm
; 19(5): 798-806, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999275
6.
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With ß-Blockers.
JAMA Cardiol
; 7(5): 504-512, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353122
7.
Identification of a SCN5A founder mutation causing sudden death, Brugada syndrome, and conduction blocks in Southern Italy.
Heart Rhythm
; 18(10): 1698-1706, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245912
8.
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.
J Am Coll Cardiol
; 75(15): 1772-1784, 2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299589
9.
Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model.
Circ Res
; 99(3): 292-8, 2006 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-16825580
10.
Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.
J Am Coll Cardiol
; 71(15): 1663-1671, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650123
11.
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
Circulation
; 114(10): 1012-9, 2006 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16908766
12.
Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.
J Clin Invest
; 110(8): 1201-9, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12393856
13.
Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3.
J Am Coll Cardiol
; 67(9): 1053-1058, 2016 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940925
14.
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk.
J Am Coll Cardiol
; 68(23): 2540-2550, 2016 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27931611
15.
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
Circulation
; 106(1): 69-74, 2002 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-12093772
16.
Novel insight into the natural history of short QT syndrome.
J Am Coll Cardiol
; 63(13): 1300-1308, 2014 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24291113
17.
Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?
Front Cardiovasc Med
; 3: 29, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27672637
18.
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).
Eur J Hum Genet
; 22(1)2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23549275
19.
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia.
J Cell Physiol
; 190(1): 1-6, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11807805
20.
FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death.
Cell
; 113(7): 829-40, 2003 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-12837242