Detalhe da pesquisa
1.
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Clin Genet
; 105(2): 185-189, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904629
2.
Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.
Europace
; 22(2): 320-329, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845994
3.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Clin Genet
; 96(4): 317-329, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245841
4.
Differential Sarcomere and Electrophysiological Maturation of Human iPSC-Derived Cardiac Myocytes in Monolayer vs. Aggregation-Based Differentiation Protocols.
Int J Mol Sci
; 18(6)2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28587156
5.
A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
Eur Heart J
; 35(16): 1069-77, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23853074
6.
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying BAG3 V468M mutation in its BAG domain.
Stem Cell Res
; 74: 103294, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183888
7.
Characterization of the stray light in a space borne atmospheric AOTF spectrometer.
Opt Express
; 21(15): 18354-60, 2013 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23938707
8.
Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Europace
; 15(10): 1522-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23858024
9.
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.
PLoS Genet
; 6(10): e1001167, 2010 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20975947
10.
Exome sequencing in arrhythmogenic right ventricular cardiomyopathy: a new diagnostic tool?
Europace
; 19(6): 889-890, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256415
11.
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Eur Heart J
; 32(9): 1065-76, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21459883
12.
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant.
Stem Cell Res
; 58: 102616, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34883448
13.
Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants.
Biol Open
; 11(9)2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066120
14.
Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition.
Stem Cell Res
; 60: 102680, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093717
15.
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.
Stem Cell Res
; 52: 102245, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33610018
16.
A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk).
Int J Cardiol
; 339: 75-82, 2021 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245791
17.
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Nat Genet
; 53(2): 128-134, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495596
18.
Cytochrome P450 2C19 polymorphism in young patients treated with clopidogrel after myocardial infarction: a cohort study.
Lancet
; 373(9660): 309-17, 2009 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19108880
19.
Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.
Eur Heart J
; 30(17): 2128-36, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19525294
20.
Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.
PLoS One
; 15(2): e0229472, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059048