Salvatore F - Search Results

1

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

Bergougnoux A, D'Argenio V, Sollfrank S, Verneau F, Telese A, Postiglione I, Lackner KJ, Claustres M, Castaldo G, Rossman H, Salvatore F, Raynal C. Bergougnoux A, et al. Among authors: salvatore f. Clin Chem Lab Med. 2018 Jun 27;56(7):1046-1053. doi: 10.1515/cclm-2017-0553. Clin Chem Lab Med. 2018. PMID: 29427548

2

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

Salvatore F, Scudiero O, Castaldo G. Salvatore F, et al. Am J Med Genet. 2002 Jul 22;111(1):88-95. doi: 10.1002/ajmg.10461. Am J Med Genet. 2002. PMID: 12124743 Review.

3

Identification of new polymorphisms in the CACNA1S gene.

Carsana A, Fortunato G, De Sarno C, Brancadoro V, Salvatore F. Carsana A, et al. Among authors: salvatore f. Clin Chem Lab Med. 2003 Jan;41(1):20-2. doi: 10.1515/CCLM.2003.004. Clin Chem Lab Med. 2003. PMID: 12636044

4

Denaturing HPLC procedure for factor IX gene scanning.

Castaldo G, Nardiello P, Bellitti F, Rocino A, Coppola A, di Minno G, Salvatore F. Castaldo G, et al. Among authors: salvatore f. Clin Chem. 2003 May;49(5):815-8. doi: 10.1373/49.5.815. Clin Chem. 2003. PMID: 12709378 No abstract available.

5

Haemophilia B: from molecular diagnosis to gene therapy.

Castaldo G, Nardiello P, Bellitti F, Santamaria R, Rocino A, Coppola A, di Minno G, Salvatore F. Castaldo G, et al. Among authors: salvatore f. Clin Chem Lab Med. 2003 Apr;41(4):445-51. doi: 10.1515/CCLM.2003.067. Clin Chem Lab Med. 2003. PMID: 12747585 Review.

6

Butyrate as an effective treatment of congenital chloride diarrhea.

Canani RB, Terrin G, Cirillo P, Castaldo G, Salvatore F, Cardillo G, Coruzzo A, Troncone R. Canani RB, et al. Among authors: salvatore f. Gastroenterology. 2004 Aug;127(2):630-4. doi: 10.1053/j.gastro.2004.03.071. Gastroenterology. 2004. PMID: 15300594

7

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.

Taruscio D, Falbo V, Floridia G, Salvatore M, Pescucci C, Cantafora A, Marongiu C, Baroncini A, Calzolari E, Cao A, Castaldo G, Bricarelli FD, Guanti G, Nitsch L, Pignatti PF, Rosatelli C, Salvatore F, Zuffardi O. Taruscio D, et al. Among authors: salvatore f, salvatore m. Clin Chem Lab Med. 2004;42(8):915-21. doi: 10.1515/CCLM.2004.148. Clin Chem Lab Med. 2004. PMID: 15387442

8

Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.

Salvatore D, Tomaiuolo R, Abate R, Vanacore B, Manieri S, Mirauda MP, Scavone A, Schiavo MV, Castaldo G, Salvatore F. Salvatore D, et al. Among authors: salvatore f. J Cyst Fibros. 2004 Jun;3(2):135-6. doi: 10.1016/j.jcf.2004.01.007. J Cyst Fibros. 2004. PMID: 15463898 Free article.

9

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation.

Polizzi A, Francavilla R, Castaldo G, Santostasi T, Tomaiuolo R, Manca A, De Robertis F, Mappa L, Oliverio FP, Salvatore F, Rigillo N. Polizzi A, et al. Among authors: salvatore f. Am J Med Genet A. 2005 Feb 1;132A(4):434-40. doi: 10.1002/ajmg.a.30493. Am J Med Genet A. 2005. PMID: 15633186

10

Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction.

Salvatore D, Tomaiuolo R, Vanacore B, Elce A, Castaldo G, Salvatore F. Salvatore D, et al. Among authors: salvatore f. Am J Med Genet A. 2005 Mar 1;133A(2):207-8. doi: 10.1002/ajmg.a.30518. Am J Med Genet A. 2005. PMID: 15666307

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