Detalhe da pesquisa
1.
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.
Hum Mol Genet
; 32(13): 2152-2161, 2023 06 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37000005
2.
Running a successful STEMM summer program: A week-by-week guide.
J Cell Physiol
; 2024 Mar 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38462753
3.
RERE deficiency contributes to the development of orofacial clefts in humans and mice.
Hum Mol Genet
; 30(7): 595-602, 2021 05 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33772547
4.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Hum Mol Genet
; 27(12): 2064-2075, 2018 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29618029
5.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Am J Hum Genet
; 98(5): 963-970, 2016 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27087320
6.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29330883
7.
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
J Med Genet
; 54(1): 47-53, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27550220
8.
Ryanodine receptor-mediated calcium leak drives progressive development of an atrial fibrillation substrate in a transgenic mouse model.
Circulation
; 129(12): 1276-1285, 2014 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-24398018
9.
Duplication of HEY2 in cardiac and neurologic development.
Am J Med Genet A
; 167A(9): 2145-9, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25832314
10.
FBN1 contributing to familial congenital diaphragmatic hernia.
Am J Med Genet A
; 167A(4): 831-6, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25736269
11.
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.
Dis Model Mech
; 11(9)2018 08 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30061196
12.
1p36 deletion syndrome: an update.
Appl Clin Genet
; 8: 189-200, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26345236