Detalhe da pesquisa
1.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Hum Mutat
; 43(9): 1333-1342, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819174
2.
Robustness and relevance of predictive score in sudden cardiac death for patients with Brugada syndrome.
Eur Heart J
; 42(17): 1687-1695, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33289793
3.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genet Med
; 23(1): 47-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893267
4.
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Eur Heart J
; 39(15): 1269-1277, 2018 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29020406
5.
SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.
Eur Heart J
; 39(31): 2879-2887, 2018 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30059973
6.
The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/ß-catenin transcription pathway.
Biochim Biophys Acta Mol Cell Res
; 1864(7): 1142-1152, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322931
7.
Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome.
Europace
; 20(12): 2014-2020, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688407
8.
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Hum Mol Genet
; 24(10): 2757-63, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650408
9.
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Am J Med Genet A
; 173(2): 531-536, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868338
10.
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
J Cardiovasc Electrophysiol
; 26(10): 1146-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26200674
11.
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Hum Mol Genet
; 21(12): 2759-67, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422768
12.
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Basic Res Cardiol
; 109(6): 446, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341504
13.
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Stem Cell Res
; 77: 103396, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522388
14.
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease.
Heart
; 110(9): 666-674, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148157
15.
Type 3 long QT syndrome: Is the effectiveness of treatment with beta-blockers population-specific?
Heart Rhythm
; 21(3): 313-320, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956775
16.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Nat Commun
; 15(1): 3380, 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643172
17.
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.
Europace
; 15(12): 1805-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23867365
18.
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Front Physiol
; 14: 1132533, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860515
19.
Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome.
JACC Clin Electrophysiol
; 9(8 Pt 1): 1248-1261, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37227351
20.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Nat Genet
; 54(3): 232-239, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210625