Detalhe da pesquisa
1.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751738
2.
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
em Inglês
| MEDLINE | ID: mdl-37000005
3.
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
EMBO Rep
; 24(10): e55043, 2023 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551717
4.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
5.
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Am J Med Genet A
; 191(9): 2433-2439, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421366
6.
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
J Med Genet
; 59(3): 270-278, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33461977
7.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
8.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
9.
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Am J Med Genet A
; 185(3): 836-840, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443296
10.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Hum Mol Genet
; 27(12): 2064-2075, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618029
11.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Am J Med Genet A
; 182(4): 652-658, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883306
12.
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
em Inglês
| MEDLINE | ID: mdl-27087320
13.
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
em Inglês
| MEDLINE | ID: mdl-27550220
14.
FBN1 contributing to familial congenital diaphragmatic hernia.
Am J Med Genet A
; 167A(4): 831-6, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736269
15.
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Hum Mol Genet
; 21(18): 4115-25, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22723016
16.
P2Y2 purinergic receptor activation is essential for efficient hepatocyte proliferation in response to partial hepatectomy.
Am J Physiol Gastrointest Liver Physiol
; 307(11): G1073-87, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25301185
17.
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia.
J Pediatr Genet
; 13(1): 29-34, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38567173
18.
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Front Cell Dev Biol
; 9: 631428, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748114
19.
ATP release after partial hepatectomy regulates liver regeneration in the rat.
J Hepatol
; 52(1): 54-62, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19914731
20.
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.
Dis Model Mech
; 11(9)2018 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061196