Scarpa M - Search Results

1

Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F. Castaldo G, et al. Among authors: scarpa m. Clin Chem. 1999 Jul;45(7):957-62. Clin Chem. 1999. PMID: 10388469

2

A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Scarpa M, Goossens M, Salvatore F. Castaldo G, et al. Among authors: scarpa m. Hum Mutat. 1999 Sep 19;14(3):272. doi: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU18>3.0.CO;2-B. Hum Mutat. 1999. PMID: 10477439 No abstract available.

3

A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

Picci L, Cameran M, Marangon O, Marzenta D, Ferrari S, Frigo AC, Scarpa M. Picci L, et al. Among authors: scarpa m. J Cyst Fibros. 2010 Jan;9(1):29-35. doi: 10.1016/j.jcf.2009.10.003. Epub 2009 Nov 7. J Cyst Fibros. 2010. PMID: 19897426 Free article.

4

Screening for cystic fibrosis gene mutations by multiplex DNA amplification.

Picci L, Anglani F, Scarpa M, Zacchello F. Picci L, et al. Among authors: scarpa m. Hum Genet. 1992 Mar;88(5):552-6. doi: 10.1007/BF00219343. Hum Genet. 1992. PMID: 1551658

5

Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.

Castellani C, Picci L, Scarpa M, Dechecchi MC, Zanolla L, Assael BM, Zacchello F. Castellani C, et al. Among authors: scarpa m. Am J Med Genet A. 2005 Jun 1;135(2):142-4. doi: 10.1002/ajmg.a.30470. Am J Med Genet A. 2005. PMID: 15832355

6

Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. Online.

Picci L, Cameran M, Olante P, Zacchello F, Scarpa M. Picci L, et al. Among authors: scarpa m. Hum Mutat. 1999;13(2):173. doi: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10094564

7

Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.

Morea A, Cameran M, Rebuffi AG, Marzenta D, Marangon O, Picci L, Zacchello F, Scarpa M. Morea A, et al. Among authors: scarpa m. Mol Hum Reprod. 2005 Aug;11(8):607-14. doi: 10.1093/molehr/gah214. Epub 2005 Aug 26. Mol Hum Reprod. 2005. PMID: 16126774

8

TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis.

Picci L, Cameran M, Scarpa M, Pradal U, Melotti P, Assael BM, Castellani C. Picci L, et al. Among authors: scarpa m. Am J Med Genet A. 2007 Aug 15;143A(16):1936-7. doi: 10.1002/ajmg.a.31849. Am J Med Genet A. 2007. PMID: 17632788 No abstract available.

9

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.

Castellani C, Picci L, Tridello G, Casati E, Tamanini A, Bartoloni L, Scarpa M, Assael BM; Veneto CF Lab Network. Castellani C, et al. Among authors: scarpa m. Genet Med. 2016 Feb;18(2):145-51. doi: 10.1038/gim.2015.68. Epub 2015 Jun 18. Genet Med. 2016. PMID: 26087173 Free article.

10

In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.

Di Francesco C, Cracco C, Tomanin R, Picci L, Ventura L, Zacchello E, Di Natale P, Anson DS, Hopwood JJ, Graham FL, Scarpa M. Di Francesco C, et al. Among authors: scarpa m. Gene Ther. 1997 May;4(5):442-8. doi: 10.1038/sj.gt.3300411. Gene Ther. 1997. PMID: 9274721

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