Detalhe da pesquisa
1.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Hum Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753158
2.
The K63 deubiquitinase CYLD modulates autism-like behaviors and hippocampal plasticity by regulating autophagy and mTOR signaling.
Proc Natl Acad Sci U S A
; 118(47)2021 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782467
3.
NnU-Net versus mesh growing algorithm as a tool for the robust and timely segmentation of neurosurgical 3D images in contrast-enhanced T1 MRI scans.
Acta Neurochir (Wien)
; 166(1): 92, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38376564
4.
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.
Int J Mol Sci
; 25(7)2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612397
5.
How we do it: the Zurich Microsurgery Lab technique for placenta preparation.
Acta Neurochir (Wien)
; 165(12): 3821-3824, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993631
6.
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835439
7.
The end of life of patients with COVID-19 in intensive care unit and the stress level on their family members: A cross-sectional study.
Nurs Crit Care
; 28(1): 133-140, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35599352
8.
Segmentation techniques of brain arteriovenous malformations for 3D visualization: a systematic review.
Radiol Med
; 127(12): 1333-1341, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255659
9.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170002
10.
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807238
11.
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Genet Mol Biol
; 44(3): e20200332, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358284
12.
Is There an Association Between Oxytocin Levels in Plasma and Pregnant Women's Mental Health?
J Am Psychiatr Nurses Assoc
; 27(3): 222-230, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782341
13.
Ablation of neuronal ADAM17 impairs oligodendrocyte differentiation and myelination.
Glia
; 68(6): 1148-1164, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851405
14.
Increased Lipophilicity of Halogenated Ruthenium(II) Polypyridyl Complexes Leads to Decreased Phototoxicity inâ vitro when Used as Photosensitizers for Photodynamic Therapy.
Chembiochem
; 21(20): 2966-2973, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32473056
15.
Interleukin-1 promotes autoimmune neuroinflammation by suppressing endothelial heme oxygenase-1 at the blood-brain barrier.
Acta Neuropathol
; 140(4): 549-567, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651669
16.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806792
17.
Hemorrhagic burden in poor-grade aneurysmal subarachnoid hemorrhage: a volumetric analysis of different bleeding distributions.
Acta Neurochir (Wien)
; 161(4): 791-797, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30790092
18.
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
J Clin Immunol
; 38(4): 494-502, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770900
19.
Nest predation risk modifies nestlings' immune function depending on the level of threat.
J Exp Biol
; 221(Pt 10)2018 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666198
20.
Quantifying the effect of straylight on photopic contrast sensitivity.
J Opt Soc Am A Opt Image Sci Vis
; 35(7): 1124-1130, 2018 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30110304