Sestini R - Search Results

1

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. Genet Test. 2005 Spring;9(1):14-9. doi: 10.1089/gte.2005.9.14. Genet Test. 2005. PMID: 15857181

2

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. Genet Test. 2008 Jun;12(2):311-8. doi: 10.1089/gte.2007.0096. Genet Test. 2008. PMID: 18554169

3

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: sestini r. 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.

4

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.

Sestini R, Vivarelli R, Balestri P, Ammannati F, Montali E, Papi L. Sestini R, et al. Hum Genet. 2000 Oct;107(4):366-71. doi: 10.1007/s004390000378. Hum Genet. 2000. PMID: 11129337

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. Hum Mutat. 2008 Feb;29(2):227-31. doi: 10.1002/humu.20679. Hum Mutat. 2008. PMID: 18072270

6

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: sestini r. PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015. PLoS One. 2015. PMID: 26066488 Free PMC article.

7

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: sestini r. 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.

8

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.

Paganini I, Capone GL, Vitte J, Sestini R, Putignano AL, Giovannini M, Papi L. Paganini I, et al. Among authors: sestini r. J Neurooncol. 2018 Mar;137(1):33-38. doi: 10.1007/s11060-017-2711-6. Epub 2017 Dec 11. J Neurooncol. 2018. PMID: 29230670

9

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L. Paganini I, et al. Among authors: sestini r. Clin Genet. 2017 Dec;92(6):664-668. doi: 10.1111/cge.13085. Epub 2017 Oct 24. Clin Genet. 2017. PMID: 28657137

10

Genetic insights into familial tumors of the nervous system.

Melean G, Sestini R, Ammannati F, Papi L. Melean G, et al. Among authors: sestini r. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):74-84. doi: 10.1002/ajmg.c.30022. Am J Med Genet C Semin Med Genet. 2004. PMID: 15264275 Review.

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