Detalhe da pesquisa
1.
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
Eur Heart J
; 44(21): 1927-1939, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038246
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.
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
4.
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
5.
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
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.
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
8.
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
9.
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
10.
Genetics and pathophysiology of mitral valve prolapse.
Front Cardiovasc Med
; 10: 1077788, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873395
11.
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Nat Commun
; 14(1): 1543, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941270
12.
Machine Learning-Based Phenogrouping in MVP Identifies Profiles Associated With Myocardial Fibrosis and Cardiovascular Events.
JACC Cardiovasc Imaging
; 16(10): 1271-1284, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204382
13.
Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.
Bioinformatics
; 27(22): 3200-1, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984761
14.
aCGH.Spline--an R package for aCGH dye bias normalization.
Bioinformatics
; 27(9): 1195-200, 2011 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21357574
15.
Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis.
Int J Cardiol
; 359: 91-98, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35427703
16.
Sodium channel ß1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
J Clin Invest
; 118(6): 2260-8, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18464934
17.
Sudden cardiac arrest associated with early repolarization.
N Engl J Med
; 358(19): 2016-23, 2008 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463377
18.
Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.
Proc Natl Acad Sci U S A
; 105(40): 15617-22, 2008 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18832177
19.
Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.
Circ Genom Precis Med
; 12(10): e002617, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141789
20.
Primary cilia defects causing mitral valve prolapse.
Sci Transl Med
; 11(493)2019 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31118289