Detalhe da pesquisa
1.
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
2.
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
3.
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Am J Med Genet A
; 158A(7): 1633-40, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678713
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.
Cardiovasc Res
; 77(1): 118-25, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18006477
10.
Host-microbe interactions as a driver of acclimation to salinity gradients in brown algal cultures.
ISME J
; 10(1): 51-63, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26114888
11.
Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.
J Am Heart Assoc
; 5(9)2016 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625342
12.
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
Hum Mutat
; 21(5): 473-81, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12673789
13.
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
Eur J Heart Fail
; 5(6): 821-5, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14675861
14.
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
Eur Heart J
; 26(8): 794-803, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15769782
15.
Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.
Am J Med Genet A
; 120A(1): 8-12, 2003 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12794684