Papi L - Search Results

1

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Paganini I, et al. Among authors: papi l. Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335493 Free PMC article.

2

Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas.

Papi L, De Vitis LR, Vitelli F, Ammannati F, Mennonna P, Montali E, Bigozzi U. Papi L, et al. Hum Genet. 1995 Mar;95(3):347-51. doi: 10.1007/BF00225206. Hum Genet. 1995. PMID: 7868131

3

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.

De Vitis LR, Tedde A, Vitelli F, Ammannati F, Mennonna P, Bigozzi U, Montali E, Papi L. De Vitis LR, et al. Among authors: papi l. Hum Genet. 1996 May;97(5):632-7. doi: 10.1007/BF02281874. Hum Genet. 1996. PMID: 8655144

4

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin.

De Vitis LR, Tedde A, Vitelli F, Ammannati F, Mennonna P, Bono P, Grammatico B, Grammatico P, Radice P, Bigozzi U, Montali E, Papi L. De Vitis LR, et al. Among authors: papi l. Hum Genet. 1996 May;97(5):638-41. doi: 10.1007/BF02281875. Hum Genet. 1996. PMID: 8655145

5

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

6

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

7

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.

8

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

9

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

10

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

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