Detalhe da pesquisa
1.
The Role of Cilia and the Complex Genetics of Congenital Heart Disease.
Annu Rev Genomics Hum Genet
; 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38724024
2.
Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.
PLoS Biol
; 21(12): e3002425, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38079449
3.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
PLoS Genet
; 19(6): e1010796, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37315079
4.
Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength.
Development
; 148(19)2021 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34486668
5.
Role of cilia in the pathogenesis of congenital heart disease.
Semin Cell Dev Biol
; 110: 2-10, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32418658
6.
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.
J Hepatol
; 79(6): 1385-1395, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37572794
7.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35227688
8.
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.
Acta Neuropathol
; 144(4): 691-706, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35980457
9.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease.
Nature
; 521(7553): 520-4, 2015 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-25807483
10.
Left-right patterning in congenital heart disease beyond heterotaxy.
Am J Med Genet C Semin Med Genet
; 184(1): 90-96, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31999049
11.
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
PLoS Genet
; 12(2): e1005821, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26918822
12.
Novel insights into the genetic landscape of congenital heart disease with systems genetics.
Prog Pediatr Cardiol
; 542019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34404969
13.
A computational framework for the detection of subcortical brain dysmaturation in neonatal MRI using 3D Convolutional Neural Networks.
Neuroimage
; 178: 183-197, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29793060
14.
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
J Med Genet
; 54(12): 825-829, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28592524
15.
The Genetic Landscape of Hypoplastic Left Heart Syndrome.
Pediatr Cardiol
; 39(6): 1069-1081, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29569026
16.
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
Hum Mol Genet
; 24(14): 3994-4005, 2015 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25877302
17.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Am J Hum Genet
; 95(3): 257-74, 2014 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25192045
18.
Correction to: Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.
Acta Neuropathol
; 144(6): 1189, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36175669
19.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Am J Hum Genet
; 93(2): 357-67, 2013 Aug 08.
Artigo
Inglês
| MEDLINE | ID: mdl-23849778
20.
Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease.
J Pediatr
; 178: 141-148.e1, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27574995