Detalhe da pesquisa
1.
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Acta Neuropathol
; 141(1): 101-116, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025139
2.
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
J Neurooncol
; 137(1): 33-38, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230670
3.
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Childs Nerv Syst
; 33(6): 933-940, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365909
4.
Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Acta Neuropathol
; 141(1): 117, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33112994
5.
Cervical cancer prevention: Feasibility of self-sampling and HPV testing in rural and urban areas of Bolivia: An observational study.
PLoS One
; 19(3): e0292605, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451956
6.
Assessment of the feasibility of pool testing for SARS-CoV-2 infection screening.
Infect Dis (Lond)
; 54(7): 478-487, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239458
7.
Implementation of a centralized HPV-based cervical cancer screening programme in Tuscany: First round results and comparison with the foregoing Pap-based screening programme.
J Med Screen
; 29(2): 110-122, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038279
8.
Pool testing on random and natural clusters of individuals: Optimisation of SARS-CoV-2 surveillance in the presence of low viral load samples.
PLoS One
; 16(5): e0251589, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003878
9.
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.
Neurogenetics
; 11(1): 73-80, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19582488
10.
Prevalence of HPV high and low risk types in cervical samples from the Italian general population: a population based study.
BMC Infect Dis
; 10: 214, 2010 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20646310
11.
Heck's disease: a diagnostic challenge.
Int J Dermatol
; 62(3): e184-e186, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36183338
12.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
J Mol Diagn
; 20(1): 87-94, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29061375
13.
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
Fam Cancer
; 15(1): 123-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26342593
14.
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.
Hum Pathol
; 46(8): 1226-31, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001331
15.
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Eur J Hum Genet
; 23(7): 963-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25335493
16.
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
PLoS One
; 10(6): e0129099, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26066488
17.
Application of COLD-PCR for improved detection of NF2 mosaic mutations.
J Mol Diagn
; 16(4): 393-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24815379