Detalhe da pesquisa
1.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
2.
The Frequency of CYP2C19 Loss-of-Function Variants in Patients with Non-Cardioembolic Ischemic Stroke or Transient Ischemic Attack in the Dutch Population.
Cerebrovasc Dis
; 52(6): 700-705, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948156
3.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genet Med
; 24(5): 1045-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058154
4.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281165
5.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Circulation
; 142(10): 1021-1024, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897753
6.
An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome.
Drug Discov Today
; : 104023, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750929
7.
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.
Stem Cell Res
; 67: 103032, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708686
8.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Sci Rep
; 11(1): 764, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436942