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
em 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
em Inglês
| MEDLINE | ID: mdl-35660865
3.
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Hepatology
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934624
4.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circ Res
; 130(1): 80-95, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34809444
5.
Angiotensin receptor blockers and ß blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials.
Lancet
; 400(10355): 822-831, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049495
6.
Genetic and molecular architecture of familial hypercholesterolemia.
J Intern Med
; 293(2): 144-165, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196022
7.
Precision medicine in rare diseases: What is next?
J Intern Med
; 294(4): 397-412, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37211972
8.
Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort.
Am J Transplant
; 22(4): 1236-1244, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854205
9.
Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome.
Arterioscler Thromb Vasc Biol
; 41(9): 2483-2493, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320838
10.
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
Int J Mol Sci
; 23(10)2022 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628605
11.
Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial.
Circulation
; 141(8): 624-636, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707832
12.
Methotrexate and rheumatoid arthritis associated interstitial lung disease.
Eur Respir J
; 57(2)2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646919
13.
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Genet Med
; 23(5): 865-871, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495528
14.
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
em Inglês
| MEDLINE | ID: mdl-33731877
15.
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
em Inglês
| MEDLINE | ID: mdl-32855533
16.
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Hum Genet
; 139(4): 461-472, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980905
17.
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Cytogenet Genome Res
; 160(2): 72-79, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187601
18.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Clin Genet
; 97(5): 723-730, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898322
19.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
J Med Genet
; 56(4): 252-260, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661052
20.
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Pharmacol Rev
; 69(1): 33-52, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920219