Detalhe da pesquisa
1.
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
2.
Signatures of mutation and selection in the cancer genome.
Nature
; 463(7283): 893-8, 2010 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-20164919
3.
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
4.
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
5.
Patterns of somatic mutation in human cancer genomes.
Nature
; 446(7132): 153-8, 2007 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-17344846
6.
PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data.
Biostatistics
; 11(1): 164-75, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19837654
7.
GLO1-A novel amplified gene in human cancer.
Genes Chromosomes Cancer
; 49(8): 711-25, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20544845
8.
Lung cancer: intragenic ERBB2 kinase mutations in tumours.
Nature
; 431(7008): 525-6, 2004 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-15457249
9.
A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.
Cancer Res
; 66(8): 3987-91, 2006 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16618716
10.
Somatic mutations of the protein kinase gene family in human lung cancer.
Cancer Res
; 65(17): 7591-5, 2005 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16140923
11.
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.
Mol Cancer Ther
; 5(11): 2606-12, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17088437
12.
Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.
Science
; 348(6237): 880-6, 2015 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25999502
13.
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
Nat Genet
; 41(5): 521-3, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19330029
14.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Nat Genet
; 41(5): 535-43, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19377476
15.
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Nat Genet
; 40(6): 776-81, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18469813
16.
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
Am J Hum Genet
; 80(5): 982-7, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436253
17.
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Am J Hum Genet
; 80(2): 345-52, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17236139
18.
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Am J Hum Genet
; 81(2): 367-74, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17668385
19.
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.
Genes Chromosomes Cancer
; 45(1): 42-6, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16175573
20.
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
Am J Hum Genet
; 79(6): 1119-24, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17186471