Detalhe da pesquisa
1.
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
2.
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
3.
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.
Am J Med Genet A
; 188(2): 628-634, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34644003
4.
In-hospital outcomes and long-term survival of women of childbearing age with aortic dissection.
J Vasc Surg
; 74(4): 1135-1142.e1, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864828
5.
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
6.
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
7.
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
J Vasc Surg
; 60(1): 160-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24650746
8.
Insights From the Histopathologic Analysis of Acquired and Genetic Thoracic Aortic Aneurysms and Dissections.
Tex Heart Inst J
; 51(1)2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38345902
9.
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Am J Med Genet A
; 161A(9): 2305-10, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897642
10.
Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
J Am Heart Assoc
; 12(19): e029518, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776192
11.
Risk Factors for Thoracic Aortic Dissection.
Genes (Basel)
; 13(10)2022 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292699
12.
Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care.
Semin Vasc Surg
; 35(1): 51-59, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501041
13.
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.
J Cardiovasc Surg (Torino)
; 62(3): 203-210, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736427
14.
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Neurology
; 96(13): e1783-e1791, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568546
15.
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Mol Genet Genomic Med
; 7(8): e836, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31293106
16.
Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.
J Am Heart Assoc
; 11(8): e025441, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383462
17.
Vascular Ehlers-Danlos syndrome: exploring the role of inflammation in arterial disease.
Circ Cardiovasc Genet
; 7(1): 5-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550430