Detalhe da pesquisa
1.
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Hum Mol Genet
; 30(23): 2286-2299, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244757
2.
Circulating biomarkers of cardiovascular disease are related to aneurysm volume in abdominal aortic aneurysm.
Vasc Med
; 28(5): 433-442, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37395286
3.
State-of-the art review: Noncompaction cardiomyopathy in pediatric patients.
Heart Fail Rev
; 27(1): 15-28, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715140
4.
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Mov Disord
; 35(9): 1667-1674, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618053
5.
Risk of abdominal aortic aneurysm (AAA) among male and female relatives of AAA patients.
Vasc Med
; 22(2): 112-118, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28429660
6.
Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction.
Pediatr Cardiol
; 37(5): 919-24, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033242
7.
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
Hum Genet
; 134(8): 881-93, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26017485
8.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Am J Med Genet A
; 167(6): 1196-203, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845371
9.
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair.
J Vasc Surg
; 59(2): 275-82, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24139982
10.
Lower atherosclerotic burden in familial abdominal aortic aneurysm.
J Vasc Surg
; 59(3): 589-93, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239112
11.
The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-ß signaling.
Cardiovasc Res
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636100
12.
Targeted proteomics and metabolomics for biomarker discovery in abdominal aortic aneurysm and post-EVAR sac volume.
Clin Chim Acta
; 554: 117786, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38246209
13.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Circ Genom Precis Med
; : e003978, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623759
14.
Aneurysmal disease is associated with lower carotid intima-media thickness than occlusive arterial disease.
J Vasc Surg
; 57(3): 642-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23183014
15.
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Brain
; 135(Pt 3): 723-35, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300876
16.
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Hum Mutat
; 33(3): 561-71, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213089
17.
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
BMC Med Genet
; 13: 105, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140321
18.
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Eur Heart J
; 32(9): 1161-70, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21459882
19.
Contraction pressure analysis using optical imaging in normal and MYBPC3-mutated hiPSC-derived cardiomyocytes grown on matrices with tunable stiffness.
Biomater Biosyst
; 8: 100068, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824378
20.
Compliance with periodic surveillance for Von-Hippel-Lindau disease.
Genet Med
; 13(6): 519-27, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21415761