Detalhe da pesquisa
1.
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Hum Genomics
; 17(1): 24, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941667
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.
RAVAQ: An integrative pipeline from quality control to region-based rare variant association analysis.
Genet Epidemiol
; 46(5-6): 256-265, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419876
4.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Ann Neurol
; 90(6): 962-975, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606115
5.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenat Diagn
; 42(5): 601-610, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150448
6.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
J Med Genet
; 57(5): 339-346, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924698
7.
Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.
Stroke
; 50(4): 789-796, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908154
8.
Soluble CD40L and CD62P levels differ in single-donor apheresis platelet concentrates and buffy coat-derived pooled platelet concentrates.
Transfusion
; 59(1): 16-20, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30291753
9.
Platelet components associated with adverse reactions: predictive value of mitochondrial DNA relative to biological response modifiers.
Transfusion
; 56(2): 497-504, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26446055
10.
Development of a highly resolutive method, using a double quadruplex tetra-primer-ARMS-PCR coupled with capillary electrophoresis to study CD40LG polymorphisms.
Mol Cell Probes
; 29(6): 335-342, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26577033
11.
The signaling role of CD40 ligand in platelet biology and in platelet component transfusion.
Int J Mol Sci
; 15(12): 22342-64, 2014 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25479079
12.
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
JAMA Netw Open
; 7(4): e247034, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630472
13.
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations.
Neurol Genet
; 9(3): e200069, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37063705
14.
On the nonlinear effects of energy consumption, economic growth, and tourism on carbon footprints in the USA.
Environ Sci Pollut Res Int
; 28(16): 20128-20139, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405137
15.
COVID-19 pandemic, oil prices, stock market, geopolitical risk and policy uncertainty nexus in the US economy: Fresh evidence from the wavelet-based approach.
Int Rev Financ Anal
; 70: 101496, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38620230
16.
Dysregulated pathways and differentially expressed proteins associated with adverse transfusion reactions in different types of platelet components.
J Proteomics
; 218: 103717, 2020 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32088354
17.
Retraction Note: On the nonlinear effects of energy consumption, economic growth, and tourism on carbon footprints in the USA.
Environ Sci Pollut Res Int
; 31(18): 27489, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38523220
18.
Data from differentially expressed proteins in platelet components associated with adverse transfusion reactions.
Data Brief
; 25: 104013, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31297409
19.
Differential protein expression of blood platelet components associated with adverse transfusion reactions.
J Proteomics
; 194: 25-36, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590131
20.
Leucocyte cytokines dominate platelet cytokines overtime in non-leucoreduced platelet components.
Blood Transfus
; 16(1): 63-72, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27643752