Detalhe da pesquisa
1.
Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma.
J Pathol
; 249(3): 319-331, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31236944
2.
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Haemophilia
; 29(3): 921-924, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897533
3.
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Nature
; 482(7384): 226-31, 2012 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22286061
4.
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
Haemophilia
; 27(5): e638-e640, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232555
5.
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.
Nat Genet
; 39(8): 989-94, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17618283
6.
Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists.
FASEB J
; 28(1): 117-30, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24121462
7.
Somatic point mutations occurring early in development: a monozygotic twin study.
J Med Genet
; 51(1): 28-34, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123875
8.
Rare copy number variants contribute to congenital left-sided heart disease.
PLoS Genet
; 8(9): e1002903, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22969434
9.
Variation at the DPP4 locus influences apolipoprotein B levels in South Asians and exhibits heterogeneity in Europeans related to BMI.
Diabetologia
; 57(4): 738-45, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24362726
10.
ALOX12 in human toxoplasmosis.
Infect Immun
; 82(7): 2670-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24686056
11.
Disruption of Mycobacterium avium subsp. paratuberculosis-specific genes impairs in vivo fitness.
BMC Genomics
; 15: 415, 2014 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885784
12.
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Brain
; 136(Pt 3): 872-81, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423674
13.
A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis.
Nat Genet
; 37(10): 1108-12, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16186814
14.
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
Acta Neuropathol
; 125(5): 659-69, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23417712
15.
A genome-wide association study identifies novel risk loci for type 2 diabetes.
Nature
; 445(7130): 881-5, 2007 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17293876
16.
Harnessing genomics to identify environmental determinants of heritable disease.
Mutat Res
; 752(1): 6-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935230
17.
Impaired innate immunity in mice deficient in interleukin-1 receptor-associated kinase 4 leads to defective type 1 T cell responses, B cell expansion, and enhanced susceptibility to infection with Toxoplasma gondii.
Infect Immun
; 80(12): 4298-308, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23027530
18.
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.
Am J Hum Genet
; 84(3): 351-66, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19249009
19.
Rare variants in the CYP27B1 gene are associated with multiple sclerosis.
Ann Neurol
; 70(6): 881-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190362
20.
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.
Acta Neuropathol
; 124(3): 439-47, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661320