Detalhe da pesquisa
1.
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.
EMBO J
; 40(14): e106536, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009673
2.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
3.
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
Nat Genet
; 39(2): 165-7, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200668
4.
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
Nat Genet
; 39(2): 162-4, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200671
5.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Am J Med Genet A
; 161A(12): 2972-80, 2013 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24214728
6.
Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis.
Proc Natl Acad Sci U S A
; 107(47): 20489-93, 2010 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21059955
7.
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Nat Genet
; 36(11): 1159-61, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15475955
8.
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.
Breast Cancer Res Treat
; 134(1): 429-33, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22527104
9.
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
J Med Genet
; 48(4): 273-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266384
10.
Identification of new Wilms tumour predisposition genes: an exome sequencing study.
Lancet Child Adolesc Health
; 3(5): 322-331, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30885698
11.
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget
; 9(94): 36719, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30613354
12.
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Nat Genet
; 49(7): 1148-1151, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28553959
13.
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
Cancer Lett
; 239(2): 234-8, 2006 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-16182441
14.
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.
F1000Res
; 5: 386, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158454
15.
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study.
J Clin Oncol
; 22(20): 4140-6, 2004 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15483024
16.
The ICR1000 UK exome series: a resource of gene variation in an outbred population.
F1000Res
; 4: 883, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834991
17.
Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Nat Genet
; 47(12): 1471-4, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26551668
18.
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Nat Commun
; 5: 4398, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099282
19.
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Nat Genet
; 46(4): 385-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24614070
20.
A genome-wide association study identifies susceptibility loci for Wilms tumor.
Nat Genet
; 44(6): 681-4, 2012 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22544364