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.
Replacement Myocardial Fibrosis in Patients With Mitral Valve Prolapse: Relation to Mitral Regurgitation, Ventricular Remodeling, and Arrhythmia.
Circulation
; 143(18): 1763-1774, 2021 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33706538
3.
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Eur Heart J
; 42(29): 2854-2863, 2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34219138
4.
DZIP1 regulates mammalian cardiac valve development through a Cby1-ß-catenin mechanism.
Dev Dyn
; 250(10): 1432-1449, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811421
5.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Am J Hum Genet
; 102(1): 133-141, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304371
6.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
7.
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.
Eur Heart J
; 40(37): 3081-3094, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114854
8.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Hum Mutat
; 40(7): 865-878, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026367
9.
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
10.
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
11.
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
12.
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
13.
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
14.
TRPM4 non-selective cation channel variants in long QT syndrome.
BMC Med Genet
; 18(1): 31, 2017 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28315637
15.
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
16.
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
17.
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
18.
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
19.
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
Circulation
; 126(12): 1469-77, 2012 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22899775
20.
Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study.
Eur Heart J
; 33(5): 622-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920962