Mastella G - Search Results

1

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: mastella g. 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.

2

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. Among authors: mastella g. Hum Genet. 1995 Apr;95(4):397-402. doi: 10.1007/BF00208963. Hum Genet. 1995. PMID: 7535742

3

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: mastella g. Eur Respir J. 1997 May;10(5):1145-9. doi: 10.1183/09031936.97.10051145. Eur Respir J. 1997. PMID: 9163660 Free article.

4

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: mastella g. Acta Paediatr. 1997 May;86(5):497-502. doi: 10.1111/j.1651-2227.1997.tb08920.x. Acta Paediatr. 1997. PMID: 9183489

5

Evidence of mild respiratory disease in men with congenital absence of the vas deferens.

Castellani C, Bonizzato A, Pradal U, Filicori M, Foresta C, La Sala GB, Mastella G. Castellani C, et al. Among authors: mastella g. Respir Med. 1999 Dec;93(12):869-75. doi: 10.1016/s0954-6111(99)90052-5. Respir Med. 1999. PMID: 10653048 Free article.

6

Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis.

Castellani C, Tamanini A, Mastella G. Castellani C, et al. Among authors: mastella g. Arch Dis Child. 2000 Jun;82(6):481-2. doi: 10.1136/adc.82.6.481. Arch Dis Child. 2000. PMID: 10833182 Free PMC article.

7

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test.

Castellani C, Benetazzo MG, Tamanini A, Begnini A, Mastella G, Pignatti P. Castellani C, et al. Among authors: mastella g. J Med Genet. 2001 Mar;38(3):202-5. doi: 10.1136/jmg.38.3.202. J Med Genet. 2001. PMID: 11303517 Free PMC article. No abstract available.

8

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: mastella g. Hum Mutat. 2001 Aug;18(2):166. doi: 10.1002/humu.1172. Hum Mutat. 2001. PMID: 11462247

9

A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.

Castellani C, Quinzii C, Altieri S, Mastella G, Assael BM. Castellani C, et al. Among authors: mastella g. Genet Test. 2001 Fall;5(3):249-54. doi: 10.1089/10906570152742317. Genet Test. 2001. PMID: 11788092

10

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: mastella g. 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.

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