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.
Structural genomic variants in thoracic aortic disease.
Curr Opin Cardiol
; 38(3): 157-161, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795406
3.
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Hum Mutat
; 43(7): 815-831, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419902
4.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Hum Mutat
; 43(12): 1824-1828, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819173
5.
The role of biglycan in the healthy and thoracic aneurysmal aorta.
Am J Physiol Cell Physiol
; 322(6): C1214-C1222, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476501
6.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
7.
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
8.
Meester-Loeys Syndrome.
Adv Exp Med Biol
; 1348: 265-272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34807424
9.
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.
J Pediatr
; 222: 213-220.e5, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32586526
10.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Hum Mutat
; 39(9): 1246-1261, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29924900
11.
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Am J Hum Genet
; 97(3): 475-82, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26299364
12.
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genet Med
; 19(4): 386-395, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27632686
13.
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
14.
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Genet Res (Camb)
; 98: e13, 2016 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27724990
15.
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Hum Mutat
; 36(8): 808-14, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907466
16.
An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome.
Drug Discov Today
; 29(7): 104023, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750929
17.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
NPJ Genom Med
; 9(1): 22, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531898
18.
Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation.
Stem Cell Res
; 66: 103009, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599284
19.
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
Stem Cell Res
; 67: 103024, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36640472
20.
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