Detalhe da pesquisa
1.
Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266331
2.
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.
Am J Hum Genet
; 98(6): 1092-1100, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236921
3.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Nature
; 476(7359): 214-9, 2011 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21833088
4.
Signatures of mutation and selection in the cancer genome.
Nature
; 463(7283): 893-8, 2010 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-20164919
5.
A small-cell lung cancer genome with complex signatures of tobacco exposure.
Nature
; 463(7278): 184-90, 2010 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20016488
6.
A comprehensive catalogue of somatic mutations from a human cancer genome.
Nature
; 463(7278): 191-6, 2010 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20016485
7.
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Nature
; 463(7279): 360-3, 2010 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20054297
8.
Imputation-based meta-analysis of severe malaria in three African populations.
PLoS Genet
; 9(5): e1003509, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23717212
9.
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Nat Genet
; 39(9): 1127-33, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704778
10.
Complex landscapes of somatic rearrangement in human breast cancer genomes.
Nature
; 462(7276): 1005-10, 2009 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20033038
11.
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Nat Genet
; 38(11): 1242-4, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17013395
12.
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
Am J Hum Genet
; 89(5): 619-27, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22055160
13.
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.
Nat Genet
; 37(6): 590-2, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15908952
14.
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
Hum Mol Genet
; 20(2): 345-53, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21044948
15.
Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers.
Nature
; 447(7147): 966-71, 2007 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-17515920
16.
Patterns of somatic mutation in human cancer genomes.
Nature
; 446(7132): 153-8, 2007 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-17344846
17.
Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq data.
Front Genet
; 14: 1158352, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37113992
18.
Immune and metabolic markers for identifying and investigating severe Coronavirus disease and Sepsis in children and young people (pSeP/COVID ChYP study): protocol for a prospective cohort study.
BMJ Open
; 13(3): e067002, 2023 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36972964
19.
mSep: investigating physiological and immune-metabolic biomarkers in septic and healthy pregnant women to predict feto-maternal immune health - a prospective observational cohort study protocol.
BMJ Open
; 12(9): e066382, 2022 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115679
20.
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Am J Hum Genet
; 82(5): 1150-7, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18455129