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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: pignatti pf. Clin Chem Lab Med. 2004;42(8):915-21. doi: 10.1515/CCLM.2004.148. Clin Chem Lab Med. 2004. PMID: 15387442
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges Md, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrézet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF. Modiano G, et al. Among authors: pignatti pf. Eur J Hum Genet. 2005 Feb;13(2):184-92. doi: 10.1038/sj.ejhg.5201306. Eur J Hum Genet. 2005. PMID: 15536480
Comment on 'CFTR gene mutations in sarcoidosis'.
Bombieri C, Belpinati F, Pignatti PF, Luisetti M. Bombieri C, et al. Among authors: pignatti pf. Eur J Hum Genet. 2003 Aug;11(8):553-4. doi: 10.1038/sj.ejhg.5201003. Eur J Hum Genet. 2003. PMID: 12891373 No abstract available.
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Pompei F, Ciminelli BM, Bombieri C, Ciccacci C, Koudova M, Giorgi S, Belpinati F, Begnini A, Cerny M, Des Georges M, Claustres M, Ferec C, Macek M Jr, Modiano G, Pignatti PF. Pompei F, et al. Among authors: pignatti pf. Eur J Hum Genet. 2006 Jan;14(1):85-93. doi: 10.1038/sj.ejhg.5201498. Eur J Hum Genet. 2006. PMID: 16251901
Anthropological features of the CFTR gene: Its variability in an African population.
Maria Ciminelli B, Bombieri C, Ciccacci C, Belpinati F, Pompei F, Maselli R, Simporé J, Pignatti PF, Modiano G. Maria Ciminelli B, et al. Among authors: pignatti pf. Ann Hum Biol. 2011 Mar;38(2):203-9. doi: 10.3109/03014460.2010.507554. Epub 2010 Sep 3. Ann Hum Biol. 2011. PMID: 20812883 Free article.
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: pignatti pf. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.
Genetic testing for adult-type hypolactasia in Italian families.
Mottes M, Belpinati F, Milani M, Saccomandi D, Petrelli E, Calacoci M, Chierici R, Pignatti PF, Borgna-Pignatti C. Mottes M, et al. Among authors: pignatti pf. Clin Chem Lab Med. 2008;46(7):980-4. doi: 10.1515/CCLM.2008.189. Clin Chem Lab Med. 2008. PMID: 18605960
230 results