Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Genetics of Thoracic and Abdominal Aortic Diseases.
Circ Res
; 124(4): 588-606, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30763214
5.
Piezo1 is required for outflow tract and aortic valve development.
J Mol Cell Cardiol
; 143: 51-62, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32251670
6.
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
7.
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.
Mol Biol Rep
; 45(5): 1507-1513, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29923154
8.
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
9.
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
Hum Mutat
; 37(5): 439-46, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842889
10.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Hum Mutat
; 37(12): 1299-1307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600092
11.
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Hum Mutat
; 37(12): 1308-1317, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27647783
12.
Comparative genomics of emerging pathogens in the Candida glabrata clade.
BMC Genomics
; 14: 623, 2013 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24034898
13.
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Nat Commun
; 14(1): 1543, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941270
14.
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
15.
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
16.
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
JAMA Neurol
; 78(8): 993-1003, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125151
17.
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Mol Genet Genomic Med
; 8(10): e1406, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748548
18.
Bridging the Genetic Divide: Ensuring Equitable Access to Neurologic Genetic Testing.
Neurology
; 102(6): e209289, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447118
19.
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21.
Eur J Hum Genet
; 27(1): 49-60, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206355
20.
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