Detalhe da pesquisa
1.
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
Annu Rev Genomics Hum Genet
; 23: 223-253, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044906
2.
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
3.
Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome.
Int J Mol Sci
; 25(9)2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732244
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Am J Hum Genet
; 103(2): 288-295, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032985
10.
Meester-Loeys Syndrome.
Adv Exp Med Biol
; 1348: 265-272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34807424
11.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281165
12.
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Acta Neuropathol
; 139(6): 1001-1024, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172343
13.
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
14.
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Connect Tissue Res
; 60(2): 146-154, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29732924
15.
The emerging role of endothelial cells in the pathogenesis of thoracic aortic aneurysm and dissection.
Eur Heart J
; 44(14): 1262-1264, 2023 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36650899
16.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat
; 39(5): 621-634, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392890
17.
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.
Trends Genet
; 31(3): 140-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703649
18.
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
BMC Med Genet
; 19(1): 140, 2018 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089473
19.
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
20.
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
Hum Mutat
; 37(6): 524-31, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26919284