Detalhe da pesquisa
1.
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.
Am J Hum Genet
; 108(9): 1578-1589, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265237
2.
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Am J Med Genet A
; 194(4): e63486, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041217
3.
X-linked genetic associations in sporadic thoracic aortic dissection.
Am J Med Genet A
; : e63644, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688863
4.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Brain
; 146(9): 3616-3623, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253099
5.
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet
; 103(6): 704-708, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861389
6.
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".
Am J Hum Genet
; 103(1): 138-143, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961567
7.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Am J Hum Genet
; 102(4): 706-712, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625025
8.
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
9.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genet Med
; 23(1): 103-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820247
10.
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
Am J Hum Genet
; 100(1): 21-30, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939641
11.
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Genet Med
; 22(2): 427-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474762
12.
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
13.
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.
Am J Hum Genet
; 99(3): 762-769, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569546
14.
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Genet Med
; 21(1): 144-151, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29925964
15.
The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).
J Vasc Surg
; 70(3): 718-723, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30871887
16.
Grange syndrome due to homozygous YY1AP1 missense rare variants.
Am J Med Genet A
; 179(12): 2500-2505, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633303
17.
MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Am J Hum Genet
; 96(1): 170-7, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557781
18.
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Circ Res
; 118(6): 928-34, 2016 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26838787
19.
Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.
Arterioscler Thromb Vasc Biol
; 37(1): 26-34, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27879251
20.
Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies.
J Mol Cell Cardiol
; 171: 102-104, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35878552