Detalhe da pesquisa
1.
Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling.
Cell
; 149(6): 1207-20, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22682244
2.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Am J Hum Genet
; 96(5): 784-96, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937446
3.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
4.
The impact of chromosomal rearrangements on regulation of gene expression.
Hum Mol Genet
; 23(R1): R76-82, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24907073
5.
Topographic analysis of pancreatic cancer by TMA and digital spatial profiling reveals biological complexity with potential therapeutic implications.
Sci Rep
; 14(1): 11361, 2024 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762572
6.
Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla.
Hum Mol Genet
; 20(5): 917-26, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21138943
7.
The effect of translocation-induced nuclear reorganization on gene expression.
Genome Res
; 20(5): 554-64, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20212020
8.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
J Med Genet
; 49(10): 660-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054248
9.
Immunoglobulin/T Cell Receptor Capture Strategy for Comprehensive Immunogenetics.
Methods Mol Biol
; 2453: 133-152, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622325
10.
Side effects of genome structural changes.
Curr Opin Genet Dev
; 17(5): 381-6, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17913489
11.
LINE retrotransposons characterize mammalian tissue-specific and evolutionarily dynamic regulatory regions.
Genome Biol
; 22(1): 62, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602314
12.
The Potential of Digital Image Analysis to Determine Tumor Cell Content in Biobanked Formalin-Fixed, Paraffin-Embedded Tissue Samples.
Biopreserv Biobank
; 19(4): 324-331, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33780631
13.
Detection of Structural Variants in Circulating Cell-Free DNA from Sarcoma Patients Using Next Generation Sequencing.
Cancers (Basel)
; 12(12)2020 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33287361
14.
Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.
Nat Commun
; 10(1): 1519, 2019 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30944321
15.
NF-κB-Dependent Lymphoid Enhancer Co-option Promotes Renal Carcinoma Metastasis.
Cancer Discov
; 8(7): 850-865, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875134
16.
Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours.
Genome Biol
; 18(1): 125, 2017 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28655341
17.
A diminutive chromosome 21 centromere in acute lymphoblastic leukemia.
Cancer Genet Cytogenet
; 167(1): 78-81, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682292
18.
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PLoS One
; 11(4): e0153757, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124303
19.
Structural variation-associated expression changes are paralleled by chromatin architecture modifications.
PLoS One
; 8(11): e79973, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24265791
20.
Structural variation and its effect on expression.
Methods Mol Biol
; 838: 173-86, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22228012