Detalhe da pesquisa
1.
KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up.
Pediatr Blood Cancer
; 69(1): e29344, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550633
2.
Genome-wide TOP2A DNA cleavage is biased toward translocated and highly transcribed loci.
Genome Res
; 27(7): 1238-1249, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28385713
3.
Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.
Proc Natl Acad Sci U S A
; 111(38): E4033-42, 2014 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192935
4.
The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5.
Diabetologia
; 59(11): 2360-2368, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27539148
5.
The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity.
BMC Genomics
; 17: 486, 2016 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27393338
6.
Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
Gastroenterology
; 149(6): 1415-24, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26193622
7.
Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings.
Pediatr Blood Cancer
; 63(7): 1175-80, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26999444
8.
Transient treatment with epigenetic modifiers yields stable neuroblastoma stem cells resembling aggressive large-cell neuroblastomas.
Proc Natl Acad Sci U S A
; 110(15): 6097-102, 2013 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23479628
9.
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
BMC Gastroenterol
; 15: 160, 2015 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581487
10.
Copy number variation at 1q21.1 associated with neuroblastoma.
Nature
; 459(7249): 987-91, 2009 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19536264
11.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404256
12.
RNA Biosignatures in Adolescent Patients in a Pediatric Emergency Department With Pelvic Inflammatory Disease.
Pediatr Emerg Care
; 31(7): 465-72, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26125533
13.
Identification of ALK as a major familial neuroblastoma predisposition gene.
Nature
; 455(7215): 930-5, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18724359
14.
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Nature
; 448(7153): 591-4, 2007 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17632545
15.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Nat Genet
; 36(6): 631-5, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15146186
16.
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Genome Res
; 19(9): 1682-90, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19592680
17.
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
PLoS Biol
; 7(5): e1000119, 2009 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19468298
18.
Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.
Bipolar Disord
; 14(8): 809-21, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22966748
19.
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
Hum Mutat
; 32(1): 91-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21120947
20.
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
N Engl J Med
; 358(24): 2585-93, 2008 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463370