Detalhe da pesquisa
1.
varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
Bioinformatics
; 39(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440912
2.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
J Med Genet
; 56(4): 220-227, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967133
3.
Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool.
Front Med (Lausanne)
; 6: 198, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31555651
4.
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.
Mol Syndromol
; 9(4): 190-196, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30140196
5.
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Front Physiol
; 8: 400, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28659821
6.
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Front Physiol
; 8: 730, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28974934
7.
TGF-ß signalopathies as a paradigm for translational medicine.
Eur J Med Genet
; 58(12): 695-703, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26598797
8.
Mutations in a TGF-ß ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
J Am Coll Cardiol
; 65(13): 1324-1336, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25835445