Detalhe da pesquisa
1.
Recognition and inhibition of SARS-CoV-2 by humoral innate immunity pattern recognition molecules.
Nat Immunol
; 23(2): 275-286, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102342
2.
Reply to: Hultström et al., Genetic determinants of mannose-binding lectin activity predispose to thromboembolic complications in critical COVID-19. Mannose-binding lectin genetics in COVID-19.
Nat Immunol
; 23(6): 865-867, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35624207
3.
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years.
Blood
; 138(21): 2093-2105, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125889
4.
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
Gastroenterology
; 160(7): 2483-2495.e26, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675743
5.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Ann Neurol
; 89(4): 834-839, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452836
6.
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Mov Disord
; 37(6): 1202-1210, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262230
7.
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.
Mov Disord
; 37(9): 1929-1937, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810454
8.
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.
Mov Disord
; 37(4): 857-864, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997937
9.
Functional and clinical implications of genetic structure in 1686 Italian exomes.
Hum Mutat
; 42(3): 272-289, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326653
10.
Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis.
Hum Mol Genet
; 28(9): 1414-1428, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30566690
11.
Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer.
Eur J Nucl Med Mol Imaging
; 48(11): 3643-3655, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33959797
12.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord
; 36(1): 251-255, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026126
13.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature
; 518(7537): 102-6, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25487149
14.
Hereditary Hypofibrinogenemia with Hepatic Storage.
Int J Mol Sci
; 21(21)2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105716
15.
A frequent oligogenic involvement in congenital hypothyroidism.
Hum Mol Genet
; 26(13): 2507-2514, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444304
16.
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
N Engl J Med
; 374(12): 1134-44, 2016 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934567
17.
Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
Blood
; 130(4): e1-e6, 2017 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28615222
18.
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest.
FASEB J
; 32(10): 5685-5702, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29746165
19.
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
Circ Res
; 121(1): 81-88, 2017 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28506971
20.
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.
Int J Mol Sci
; 20(4)2019 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30791524