Papi L - Search Results

1

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G. Mansouri S, et al. Among authors: papi l. Acta Neuropathol. 2021 Jan;141(1):101-116. doi: 10.1007/s00401-020-02230-x. Epub 2020 Oct 6. Acta Neuropathol. 2021. PMID: 33025139 Free PMC article.

2

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. Among authors: papi l. Hum Genet. 2000 Oct;107(4):366-71. doi: 10.1007/s004390000378. Hum Genet. 2000. PMID: 11129337

3

Premature ovarian failure and fragile X premutation: a study on 45 women.

Bussani C, Papi L, Sestini R, Baldinotti F, Bucciantini S, Bruni V, Scarselli G. Bussani C, et al. Among authors: papi l. Eur J Obstet Gynecol Reprod Biol. 2004 Feb 10;112(2):189-91. doi: 10.1016/j.ejogrb.2003.06.003. Eur J Obstet Gynecol Reprod Biol. 2004. PMID: 14746957

4

Genetic insights into familial tumors of the nervous system.

Melean G, Sestini R, Ammannati F, Papi L. Melean G, et al. Among authors: papi l. 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.

5

Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene.

Bagnoli S, Putignano AL, Melean G, Baglioni S, Sestini R, Milla M, d'Albasio G, Genuardi M, Pacini F, Trallori G, Papi L. Bagnoli S, et al. Among authors: papi l. Inflamm Bowel Dis. 2004 Nov;10(6):705-8. doi: 10.1097/00054725-200411000-00001. Inflamm Bowel Dis. 2004. PMID: 15626886

6

A kindred with MYH-associated polyposis and pilomatricomas.

Baglioni S, Melean G, Gensini F, Santucci M, Scatizzi M, Papi L, Genuardi M. Baglioni S, et al. Among authors: papi l. Am J Med Genet A. 2005 Apr 15;134A(2):212-4. doi: 10.1002/ajmg.a.30585. Am J Med Genet A. 2005. PMID: 15690400

7

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

8

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

9

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

10

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

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