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.
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
3.
T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes.
Gut
; 66(3): 454-463, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681737
4.
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Hum Mol Genet
; 24(20): 5828-35, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220970
5.
Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.
Blood
; 121(21): 4388-95, 2013 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575445
6.
Profiling celiac disease antibody repertoire.
Clin Immunol
; 148(1): 99-109, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23685219
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.
Rapid interactome profiling by massive sequencing.
Nucleic Acids Res
; 38(9): e110, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20144949
9.
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
10.
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
11.
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
Haematologica
; 96(4): 607-11, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21228032
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.
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.
Anal Biochem
; 406(2): 176-84, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20670611
16.
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
17.
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
18.
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.
Heart Rhythm
; 17(2): 296-304, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31437535
19.
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.
BMC Genomics
; 9: 464, 2008 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18842124
20.
Whole-genome pyrosequencing of an epidemic multidrug-resistant Acinetobacter baumannii strain belonging to the European clone II group.
Antimicrob Agents Chemother
; 52(7): 2616-25, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18411315