Detalhe da pesquisa
1.
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Hum Genet
; 143(6): 775-795, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874808
2.
INTEGRATE: Model-based multi-omics data integration to characterize multi-level metabolic regulation.
PLoS Comput Biol
; 18(2): e1009337, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130273
3.
Insights on the molecular mechanisms of cytotoxicity induced by AS1411 linked to folate-functionalized DNA nanocages in cancer cells.
Nanomedicine
; 54: 102710, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734452
4.
The Genome-Wide Impact of Nipblb Loss-of-Function on Zebrafish Gene Expression.
Int J Mol Sci
; 21(24)2020 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352756
5.
Major Action of Endogenous Lysyl Oxidase in Clear Cell Renal Cell Carcinoma Progression and Collagen Stiffness Revealed by Primary Cell Cultures.
Am J Pathol
; 186(9): 2473-85, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449199
6.
Melanocortin-1 receptor (MC1R): a review for dermatologists.
Ital J Dermatol Venerol
; 159(3): 285-293, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38376504
7.
New insights into the molecular basis of spinal neurofibromatosis type 1.
Eur J Hum Genet
; 31(8): 931-938, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217626
8.
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Cancers (Basel)
; 15(1)2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36612057
9.
A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
J Neurol
; 269(8): 4510-4522, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545683
10.
Renal cell carcinoma primary cultures maintain genomic and phenotypic profile of parental tumor tissues.
BMC Cancer
; 11: 244, 2011 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21668985
11.
A computational procedure to identify significant overlap of differentially expressed and genomic imbalanced regions in cancer datasets.
Nucleic Acids Res
; 37(15): 5057-70, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19542187
12.
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells.
J Neurosci Methods
; 347: 108960, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32987100
13.
Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population.
Front Genet
; 12: 800262, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047017
14.
Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility.
J Genet Genomics
; 48(6): 497-507, 2021 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353742
15.
Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.
Sci Rep
; 10(1): 5517, 2020 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32251337
16.
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Eur J Hum Genet
; 28(10): 1432-1445, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514133
17.
A Census of Tandemly Repeated Polymorphic Loci in Genic Regions Through the Comparative Integration of Human Genome Assemblies.
Front Genet
; 9: 155, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770143
18.
The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation.
Oncotarget
; 8(69): 113502-113515, 2017 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29371925
19.
Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
J Neurol
; 269(8): 4523-4524, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751689
20.
Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.
Sci Rep
; 6: 33735, 2016 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27670852