Detalhe da pesquisa
1.
Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.
J Anat
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419169
2.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
3.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
4.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
5.
Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.
J Mol Cell Cardiol
; 114: 185-198, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29174768
6.
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hum Mol Genet
; 25(11): 2331-2341, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26965164
7.
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.
J Mol Cell Cardiol
; 106: 1-13, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28359939
8.
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet
; 94(4): 574-85, 2014 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24702954
9.
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.
Hum Mol Genet
; 23(6): 1551-62, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24179176
10.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Hum Mol Genet
; 22(7): 1473-81, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297363
11.
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Am J Hum Genet
; 91(3): 489-501, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939634
12.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Hum Mol Genet
; 21(7): 1513-20, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22199024
13.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Am J Hum Genet
; 98(3): 592, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28863274
14.
Mutation in myosin heavy chain 6 causes atrial septal defect.
Nat Genet
; 37(4): 423-8, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15735645
15.
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.
BMC Genet
; 14: 57, 2013 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23782575
16.
Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.
J Biol Chem
; 286(44): 38427-38438, 2011 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21900255
17.
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
Am J Pathol
; 174(1): 216-27, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19095965
18.
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Genome Med
; 12(1): 76, 2020 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32859249
19.
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.
Sci Transl Med
; 12(541)2020 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350131
20.
Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.
J Anat
; 214(6): 905-15, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19538634