Detalhe da pesquisa
1.
Comprehensive Mapping of Histone Modifications at DNA Double-Strand Breaks Deciphers Repair Pathway Chromatin Signatures.
Mol Cell
; 72(2): 250-262.e6, 2018 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270107
2.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Hum Mol Genet
; 27(21): 3669-3674, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30124836
3.
Feasibility Study of a Novel Protease-Activated Fluorescent Imaging System for Real-Time, Intraoperative Detection of Residual Breast Cancer in Breast Conserving Surgery.
Ann Surg Oncol
; 27(6): 1854-1861, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898104
4.
Correction to: Feasibility Study of a Novel Protease-Activated Fluorescent Imaging System for Real-Time, Intraoperative Detection of Residual Breast Cancer in Breast Conserving Surgery.
Ann Surg Oncol
; 27(Suppl 3): 967, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170477
5.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352868
6.
Ssb1 and Ssb2 cooperate to regulate mouse hematopoietic stem and progenitor cells by resolving replicative stress.
Blood
; 129(18): 2479-2492, 2017 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28270450
7.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
J Hum Genet
; 63(4): 517-520, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410511
8.
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Clin Genet
; 94(3-4): 381-385, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29938792
9.
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Clin Genet
; 94(6): 581-585, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238967
10.
Cytoplasmic Cyclin E and Phospho-Cyclin-Dependent Kinase 2 Are Biomarkers of Aggressive Breast Cancer.
Am J Pathol
; 186(7): 1900-1912, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27182644
11.
Thrombospondin-1 induction in the diabetic myocardium stabilizes the cardiac matrix in addition to promoting vascular rarefaction through angiopoietin-2 upregulation.
Circ Res
; 113(12): 1331-44, 2013 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24081879
12.
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Clin Genet
; 95(6): 736-738, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30920656
13.
Lung adenocarcinomas with isolated TP53 mutation: A comprehensive clinical, cytopathologic and molecular characterization.
Cancer Med
; 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164123
14.
Exposure of Keratinocytes to Candida Albicans in the Context of Atopic Milieu Induces Changes in the Surface Glycosylation Pattern of Small Extracellular Vesicles to Enhance Their Propensity to Interact With Inhibitory Siglec Receptors.
Front Immunol
; 13: 884530, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35784319
15.
TGF-ß signaling in fibrosis.
Growth Factors
; 29(5): 196-202, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21740331
16.
Applications of nanodosimetry in particle therapy planning and beyond.
Phys Med Biol
; 66(24)2021 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34731854
17.
High-resolution, ultrasensitive and quantitative DNA double-strand break labeling in eukaryotic cells using i-BLESS.
Nat Protoc
; 16(2): 1034-1061, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349705
18.
Histopathologic and clinical outcomes of Milan System categories "non-diagnostic" and "non-neoplastic" of salivary gland fine needle aspirations.
J Am Soc Cytopathol
; 10(4): 349-356, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33867311
19.
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
Diagnostics (Basel)
; 11(7)2021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359351
20.
Accuracy of Subclassification and Grading of Renal Tumors on Fine Needle Aspiration Cytology Alone.
Acta Cytol
; 65(2): 140-149, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33535202