Detalhe da pesquisa
1.
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.
Am J Med Genet A
; 188(5): 1448-1456, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35092149
2.
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
3.
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
4.
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
5.
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
J Vasc Surg
; 71(1): 149-157, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353273
6.
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
7.
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
8.
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
9.
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
10.
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
J Vasc Surg
; 70(5): 1543-1554, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31126764
11.
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
12.
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
13.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Genet Med
; 20(10): 1206-1215, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300374
14.
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
15.
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
16.
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Am J Hum Genet
; 95(6): 736-43, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434006
17.
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Am J Hum Genet
; 93(2): 398-404, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910461
18.
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Hum Mutat
; 36(12): 1145-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26247899
19.
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Stroke
; 45(11): 3200-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25278557
20.
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
Am J Med Genet A
; 164A(1): 106-12, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243736