Pignatti PF - Search Results

1

Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion.

Gasparini P, Pignatti PF, Borgo G, Mastella G. Gasparini P, et al. Among authors: pignatti pf. Am J Med Genet. 1991 May 1;39(2):230-1. doi: 10.1002/ajmg.1320390227. Am J Med Genet. 1991. PMID: 2063932 No abstract available.

2

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti PF. Gasparini P, et al. Among authors: pignatti pf. J Med Genet. 1992 Aug;29(8):558-62. doi: 10.1136/jmg.29.8.558. J Med Genet. 1992. PMID: 1381442 Free PMC article.

3

Pancreatic function and gene deletion F508 in cystic fibrosis.

Borgo G, Mastella G, Gasparini P, Zorzanello A, Doro R, Pignatti PF. Borgo G, et al. Among authors: pignatti pf. J Med Genet. 1990 Nov;27(11):665-9. doi: 10.1136/jmg.27.11.665. J Med Genet. 1990. PMID: 2277379 Free PMC article.

4

Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.

Novelli G, Gasparini P, Savoia A, Pignatti PF, Sangiuolo F, Dallapiccola B. Novelli G, et al. Among authors: pignatti pf. Hum Genet. 1990 Sep;85(4):420-1. doi: 10.1007/BF02428291. Hum Genet. 1990. PMID: 2210757

5

Sex difference in D7S8 marker allele distribution in adult cystic fibrosis patients.

Gasparini P, Pignatti PF, Mastella G. Gasparini P, et al. Among authors: pignatti pf. Lancet. 1989 Sep 16;2(8664):686-7. doi: 10.1016/s0140-6736(89)90938-0. Lancet. 1989. PMID: 2570943 No abstract available.

6

Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.

Borgo G, Gasparini P, Bonizzato A, Cabrini G, Mastella G, Pignatti PF. Borgo G, et al. Among authors: pignatti pf. Eur J Pediatr. 1993 Dec;152(12):1006-11. doi: 10.1007/BF01957227. Eur J Pediatr. 1993. PMID: 8131801

7

Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride.

Castellani C, Benetazzo MG, Bonizzato A, Pignatti PF, Mastella G. Castellani C, et al. Among authors: pignatti pf. Am J Hum Genet. 1999 Jan;64(1):303-4. doi: 10.1086/302212. Am J Hum Genet. 1999. PMID: 9915972 Free PMC article. No abstract available.

8

A tetranucleotide repeat polymorphism in the cystic fibrosis gene.

Gasparini P, Dognini M, Bonizzato A, Pignatti PF, Morral N, Estivill X. Gasparini P, et al. Among authors: pignatti pf. Hum Genet. 1991 Apr;86(6):625. doi: 10.1007/BF00201556. Hum Genet. 1991. PMID: 1709137 No abstract available.

9

Delta F508 gene deletion in cystic fibrosis in southern Europe.

Estivill X, Chillon M, Casals T, Bosch A, Morral N, Nunes V, Gasparini P, Seia A, Pignatti PF, Novelli G, et al. Estivill X, et al. Among authors: pignatti pf. Lancet. 1989 Dec 9;2(8676):1404. doi: 10.1016/s0140-6736(89)92024-2. Lancet. 1989. PMID: 2574355 No abstract available.

10

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.

Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G. Gasparini P, et al. Among authors: pignatti pf. Hum Mutat. 1993;2(5):389-94. doi: 10.1002/humu.1380020511. Hum Mutat. 1993. PMID: 7504969

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

230 results

Search Page

Filters