Bonizzato A - Search Results

1

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: bonizzato a. Eur J Pediatr. 1993 Dec;152(12):1006-11. doi: 10.1007/BF01957227. Eur J Pediatr. 1993. PMID: 8131801

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: bonizzato a. 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

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.

Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, Zelante L, Mastella G, Cabrini G, et al. Bonizzato A, et al. Hum Genet. 1995 Apr;95(4):397-402. doi: 10.1007/BF00208963. Hum Genet. 1995. PMID: 7535742

4

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.

Gasparini P, Bonizzato A, Dognini M, Pignatti PF. Gasparini P, et al. Among authors: bonizzato a. Mol Cell Probes. 1992 Feb;6(1):1-7. doi: 10.1016/0890-8508(92)90064-5. Mol Cell Probes. 1992. PMID: 1347644

5

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: bonizzato a. Hum Genet. 1991 Apr;86(6):625. doi: 10.1007/BF00201556. Hum Genet. 1991. PMID: 1709137 No abstract available.

6

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G, et al. Gasparini P, et al. Among authors: bonizzato a. Genomics. 1991 May;10(1):193-200. doi: 10.1016/0888-7543(91)90500-e. Genomics. 1991. PMID: 2045102

7

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Castellani C, Bonizzato A, Mastella G. Castellani C, et al. Among authors: bonizzato a. J Med Genet. 1997 Apr;34(4):297-301. doi: 10.1136/jmg.34.4.297. J Med Genet. 1997. PMID: 9138152 Free PMC article.

8

Nasal potential difference in cystic fibrosis patients presenting borderline sweat test.

Delmarco A, Pradal U, Cabrini G, Bonizzato A, Mastella G. Delmarco A, et al. Among authors: bonizzato a. Eur Respir J. 1997 May;10(5):1145-9. doi: 10.1183/09031936.97.10051145. Eur Respir J. 1997. PMID: 9163660 Free article.

9

Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.

Castellani C, Bonizzato A, Cabrini G, Mastella G. Castellani C, et al. Among authors: bonizzato a. Acta Paediatr. 1997 May;86(5):497-502. doi: 10.1111/j.1651-2227.1997.tb08920.x. Acta Paediatr. 1997. PMID: 9183489

10

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.

Castellani C, Gomez Lira M, Frulloni L, Delmarco A, Marzari M, Bonizzato A, Cavallini G, Pignatti P, Mastella G. Castellani C, et al. Among authors: bonizzato a. Hum Mutat. 2001 Aug;18(2):166. doi: 10.1002/humu.1172. Hum Mutat. 2001. PMID: 11462247

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