Papi L - Search Results

1

Application of COLD-PCR for improved detection of NF2 mosaic mutations.

Paganini I, Mancini I, Baroncelli M, Arena G, Gensini F, Papi L, Sestini R. Paganini I, et al. Among authors: papi l. J Mol Diagn. 2014 Jul;16(4):393-9. doi: 10.1016/j.jmoldx.2014.02.007. Epub 2014 May 9. J Mol Diagn. 2014. PMID: 24815379 Free article.

2

Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.

Sestini R, Putignano AL, Ammannati F, Papi L. Sestini R, et al. Among authors: papi l. Genet Test. 2005 Spring;9(1):14-9. doi: 10.1089/gte.2005.9.14. Genet Test. 2005. PMID: 15857181

3

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.

Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, Falconi S, Frusconi S, Giotti I, Giuliani C, Torricelli F, Benelli M, Papi L. Contini E, et al. Among authors: papi l. PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015. PLoS One. 2015. PMID: 26066488 Free PMC article.

4

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.

Capone GL, Putignano AL, Trujillo Saavedra S, Paganini I, Sestini R, Gensini F, De Rienzo I, Papi L, Porfirio B. Capone GL, et al. Among authors: papi l. J Mol Diagn. 2018 Jan;20(1):87-94. doi: 10.1016/j.jmoldx.2017.09.005. Epub 2017 Oct 20. J Mol Diagn. 2018. PMID: 29061375 Free article.

5

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Sestini R, et al. Among authors: papi l. Hum Mutat. 2008 Feb;29(2):227-31. doi: 10.1002/humu.20679. Hum Mutat. 2008. PMID: 18072270

6

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

Sestini R, Provenzano A, Bacci C, Orlando C, Genuardi M, Papi L. Sestini R, et al. Among authors: papi l. Genet Test. 2008 Jun;12(2):311-8. doi: 10.1089/gte.2007.0096. Genet Test. 2008. PMID: 18554169

7

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L. Bacci C, et al. Among authors: papi l. Neurogenetics. 2010 Feb;11(1):73-80. doi: 10.1007/s10048-009-0204-2. Epub 2009 Jul 7. Neurogenetics. 2010. PMID: 19582488

8

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

Paganini I, Sestini R, Cacciatore M, Capone GL, Candita L, Paolello C, Sbaraglia M, Dei Tos AP, Rossi S, Papi L. Paganini I, et al. Among authors: papi l. Hum Pathol. 2015 Aug;46(8):1226-31. doi: 10.1016/j.humpath.2015.04.008. Epub 2015 May 6. Hum Pathol. 2015. PMID: 26001331

9

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L. Gigante L, et al. Among authors: papi l. Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6. Fam Cancer. 2016. PMID: 26342593

10

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

Caltabiano R, Magro G, Polizzi A, Praticò AD, Ortensi A, D'Orazi V, Panunzi A, Milone P, Maiolino L, Nicita F, Capone GL, Sestini R, Paganini I, Muglia M, Cavallaro S, Lanzafame S, Papi L, Ruggieri M. Caltabiano R, et al. Among authors: papi l. Childs Nerv Syst. 2017 Jun;33(6):933-940. doi: 10.1007/s00381-017-3340-2. Epub 2017 Apr 1. Childs Nerv Syst. 2017. PMID: 28365909

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