Detalhe da pesquisa
1.
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
J Med Genet
; 61(5): 469-476, 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38458756
2.
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Hum Mol Genet
; 31(22): 3777-3788, 2022 11 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35660865
3.
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Front Genet
; 12: 734718, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34912367
4.
ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms.
Biomolecules
; 12(1)2021 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35053160