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1.
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
Am J Hum Genet
; 108(8): 1512-1525, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34242570
2.
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36835434
3.
Monitoring Somatic Genetic Alterations in Circulating Cell-Free DNA/RNA of Patients with "Oncogene-Addicted" Advanced Lung Adenocarcinoma: A Real-World Clinical Study.
Int J Mol Sci
; 23(15)2022 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35955679
4.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Mol Med
; 27(1): 157, 2021 12 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906067
5.
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Haematologica
; 105(3): 829-837, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31273093
6.
Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.
Hum Mutat
; 40(1): 48-52, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30408273
7.
Antibody response to polyomavirus primary infection: high seroprevalence of Merkel cell polyomavirus and lymphoid tissue involvement.
J Neurovirol
; 24(3): 314-322, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29330826
8.
MBL2 polymorphisms in women with atypical squamous cells of undetermined significance.
J Med Virol
; 87(5): 851-9, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25693844
9.
Beta defensin-1 gene polymorphisms and susceptibility to atypical squamous cells of undetermined significance lesions in Italian gynecological patients.
J Med Virol
; 86(12): 1999-2004, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24435641
10.
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.
Biochim Biophys Acta
; 1822(7): 1109-13, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22426302
11.
Case report: Tissue positivity for SARS-CoV-2 in a preterm born infant death of thrombosis: possible intrauterine transmission.
Front Med (Lausanne)
; 10: 1127529, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37250636
12.
MicroRNA profiling for the identification of cancers with unknown primary tissue-of-origin.
J Pathol
; 225(1): 43-53, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21630269
13.
Rescue of coagulation factor VII function by the U1+5A snRNA.
Blood
; 113(25): 6461-4, 2009 Jun 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-19387004
14.
Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.
Genes (Basel)
; 12(6)2021 06 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34207366
15.
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.
Front Genet
; 10: 974, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31649737
16.
Second primary malignancies in patients with non-melanoma skin cancer: Results from a cancer registry-based study in Emilia Romagna, north-east Italy.
Cancer Epidemiol
; 61: 176-184, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31301588
17.
Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency.
Haematologica
; 93(3): 477-8, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18310546
18.
Microsatellite instability and colorectal cancer prognosis.
Clin Cancer Res
; 11(23): 8332-40, 2005 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-16322293
19.
Merkel-cell polyomavirus (MCPyV) is rarely associated to B-chronic lymphocytic leukemia (1 out of 50) samples and occurs late in the natural history of the disease.
J Clin Virol
; 55(4): 367-9, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22959215
20.
Asbestos and SV40 in malignant pleural mesothelioma from a hyperendemic area of north-eastern Italy.
Tumori
; 98(2): 210-4, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22677986