Detalhe da pesquisa
1.
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.
Neurobiol Dis
; 162: 105578, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871736
2.
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Mov Disord
; 30(7): 968-75, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914309
3.
Seroprevalence of Protective Antibodies Against Influenza and the Reduction of the Influenza Incidence Rate: An Annual Repeated Cross-Sectional Study From 2014 to 2019.
Influenza Other Respir Viruses
; 18(5): e13307, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798072
4.
Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals.
Rheumatology (Oxford)
; 52(12): 2168-76, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24046467
5.
A high density SNP genotyping approach within the 19q13 chromosome region identifies an association of a CNOT3 polymorphism with ankylosing spondylitis.
Ann Rheum Dis
; 71(5): 714-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294640
6.
Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).
Cerebellum
; 11(4): 1045-50, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422287
7.
Fine mapping of a major histocompatibility complex in ankylosing spondylitis: association of the HLA-DPA1 and HLA-DPB1 regions.
Arthritis Rheum
; 63(11): 3305-12, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21769851
8.
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.
Rheumatol Int
; 32(9): 2745-51, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21811784
9.
Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review.
Front Genet
; 13: 987867, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36276944
10.
HLA class-I diversity in Cameroon: evidence for a north-south structure of genetic variation and relationships with African populations.
Ann Hum Genet
; 75(6): 665-77, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910692
11.
Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR.
Transl Lung Cancer Res
; 10(3): 1200-1208, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889502
12.
The effects of vitrification on gene expression in mature mouse oocytes by nested quantitative PCR.
J Assist Reprod Genet
; 27(11): 599-604, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20714800
13.
Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine.
Curr Diabetes Rev
; 16(8): 807-819, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31886753
14.
Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis.
Acta Reumatol Port
; 45(2): 116-126, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895354
15.
Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci.
Coll Antropol
; 33(4): 991-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20102040
16.
Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014-2018.
J Clin Virol
; 121: 104200, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707201
17.
Evaluation of two methods for computational HLA haplotypes inference using a real dataset.
BMC Bioinformatics
; 9: 68, 2008 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-18230173
18.
Activating KIR genes are associated with ankylosing spondylitis in Asian populations.
Hum Immunol
; 69(7): 437-42, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18638658
19.
Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates.
Sci Rep
; 8(1): 6027, 2018 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29662086
20.
Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F.
RMD Open
; 4(1): e000677, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30018800