Giunta A - Search Results

1

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.

Padoan R, Costantini D, Russo MC, Ambrosioni A, Fiori S, Prandoni S, Cantù-Rajnoldi A, Seia M, Giunta A. Padoan R, et al. Among authors: giunta a. Hum Mutat. 2000 May;15(5):486. doi: 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU25>3.0.CO;2-S. Hum Mutat. 2000. PMID: 10790225 No abstract available.

2

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.

Padoan R, Bassotti A, Seia M, Ambrosioni A, Fiori S, Prandoni S, Rajnoldi AC, Giunta A, Corbetta C. Padoan R, et al. Among authors: giunta a. Hum Mutat. 2000 May;15(5):485. doi: 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU22>3.0.CO;2-3. Hum Mutat. 2000. PMID: 10790222 No abstract available.

3

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.

Seia M, Cantù-Rajnoldi A, Ambrosioni A, Fiori S, Prandoni S, Corbetta C, Bassotti A, Moretti E, Giunta A, Padoan R. Seia M, et al. Among authors: giunta a. Hum Mutat. 2000 Sep;16(3):279. doi: 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10980555 No abstract available.

4

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.

Seia M, Cantù-Rajnoldi A, Ambrosioni A, Fiori S, Bassotti A, Pizzamiglio G, Giunta A, Padoan R. Seia M, et al. Among authors: giunta a. Hum Mutat. 2000 Dec;16(6):532-3. doi: 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E. Hum Mutat. 2000. PMID: 11102992 No abstract available.

5

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M. Brancolini V, et al. Among authors: giunta a. Hum Genet. 1995 Sep;96(3):312-8. doi: 10.1007/BF00210414. Hum Genet. 1995. PMID: 7544319

6

Mild CF phenotype associated with T3381 missense mutation.

Padoan R, Seia M, Cremonesi L, Giunta A. Padoan R, et al. Among authors: giunta a. J Pediatr. 1996 May;128(5 Pt 1):721-2. doi: 10.1016/s0022-3476(96)80154-5. J Pediatr. 1996. PMID: 8627456 No abstract available.

7

Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.

Corbetta C, Seia M, Bassotti A, Ambrosioni A, Giunta A, Padoan R. Corbetta C, et al. Among authors: giunta a. J Med Screen. 2002;9(2):60-3. doi: 10.1136/jms.9.2.60. J Med Screen. 2002. PMID: 12133923

8

Nasal polyposis in cystic fibrosis treated by beclomethasone dipropionate.

Costantini D, Di Cicco M, Giunta A, Amabile G. Costantini D, et al. Among authors: giunta a. Acta Univ Carol Med (Praha). 1990;36(1-4):220-1. Acta Univ Carol Med (Praha). 1990. PMID: 2130702

9

First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.

Padoan R, Giunta A, Marzano MT, Seia M, Raia V, Ferrari M, Cremonesi L. Padoan R, et al. Among authors: giunta a. J Med Genet. 1996 Dec;33(12):1052-4. doi: 10.1136/jmg.33.12.1052-b. J Med Genet. 1996. PMID: 9004147 Free PMC article. No abstract available.

10

Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis.

Padoan R, Genoni S, Moretti E, Seia M, Giunta A, Corbetta C. Padoan R, et al. Among authors: giunta a. Acta Paediatr. 2002;91(1):82-7. doi: 10.1080/080352502753458012. Acta Paediatr. 2002. PMID: 11883825

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