Detalhe da pesquisa
1.
Small chromosomal regions position themselves autonomously according to their chromatin class.
Genome Res
; 27(6): 922-933, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341771
2.
T cell antigen receptor stimulation induces MALT1 paracaspase-mediated cleavage of the NF-kappaB inhibitor A20.
Nat Immunol
; 9(3): 263-71, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18223652
3.
Malt1 self-cleavage is critical for regulatory T cell homeostasis and anti-tumor immunity in mice.
Eur J Immunol
; 48(10): 1728-1738, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30025160
4.
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Hum Mutat
; 37(8): 804-11, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159028
5.
Kinase activation and transformation by NUP214-ABL1 is dependent on the context of the nuclear pore.
Mol Cell
; 31(1): 134-42, 2008 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-18614052
6.
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nat Genet
; 39(9): 1120-6, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704776
7.
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia.
Nat Genet
; 39(5): 593-5, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17435759
8.
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.
Am J Hum Genet
; 91(2): 252-64, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22840365
9.
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
Nat Genet
; 38(12): 1419-23, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17115058
10.
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
Hum Genet
; 133(11): 1359-67, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25037250
11.
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
Am J Med Genet A
; 164A(8): 1947-52, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24737742
12.
Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic background.
Nucleic Acids Res
; 40(22): 11477-89, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23066103
13.
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Hum Genet
; 132(10): 1177-85, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783460
14.
JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma.
Blood
; 117(15): 4056-64, 2011 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21325169
15.
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Cancer Cell
; 7(4): 387-97, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15837627
16.
Allele-specific copy number analysis of tumors.
Proc Natl Acad Sci U S A
; 107(39): 16910-5, 2010 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837533
17.
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.
Nat Genet
; 36(10): 1084-9, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15361874
18.
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
Am J Hum Genet
; 85(6): 809-22, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004760
19.
The atonal proneural transcription factor links differentiation and tumor formation in Drosophila.
PLoS Biol
; 7(2): e40, 2009 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19243220
20.
Atonal homolog 1 is a tumor suppressor gene.
PLoS Biol
; 7(2): e39, 2009 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19243219