Detalhe da pesquisa
1.
Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.
Genet Med
; 23(7): 1296-1304, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33731877
2.
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Genet Med
; 23(1): 111-122, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32855533
3.
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Genet Med
; 21(9): 2015-2024, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30739908
4.
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
J Med Genet
; 54(2): 100-103, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27582083
5.
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
Orphanet J Rare Dis
; 19(1): 180, 2024 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38685042
6.
Muscular phenotype description of abnormal THOC2 splicing.
Neuromuscul Disord
; 33(12): 978-982, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37945483
7.
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Mol Genet Genomic Med
; 9(11): e1814, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34672437
8.
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Genes (Basel)
; 11(5)2020 05 20.
Artigo
Inglês
| MEDLINE | ID: mdl-32443863
9.
Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.
J Am Coll Cardiol
; 75(8): 843-853, 2020 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32130918
10.
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
Mol Genet Genomic Med
; 8(5): e1132, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32154675
11.
Risk of Ascending Aortic Aneurysm in Patients With Autosomal Dominant Polycystic Kidney Disease.
Am J Cardiol
; 123(3): 482-488, 2019 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30477801
12.
Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.
Circ Cardiovasc Imaging
; 12(3): e008129, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30841707
13.
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
Circ Cardiovasc Genet
; 9(6): 548-558, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27879313