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Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study.
Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, D'Apice MR, Bettin MD, Pignatti PF, Castaldo G, Novelli G. Tomaiuolo R, et al. Among authors: bombieri c. J Cyst Fibros. 2008 Sep;7(5):347-51. doi: 10.1016/j.jcf.2007.12.004. Epub 2008 Feb 14. J Cyst Fibros. 2008. PMID: 18280224 Free article.
Highly preferential association of NonF508del CF mutations with the M470 allele.
Ciminelli BM, Bonizzato A, Bombieri C, Pompei F, Gabaldo M, Ciccacci C, Begnini A, Holubova A, Zorzi P, Piskackova T, Macek M Jr, Castellani C, Modiano G, Pignatti PF. Ciminelli BM, et al. Among authors: bombieri c. J Cyst Fibros. 2007 Jan;6(1):15-22. doi: 10.1016/j.jcf.2006.04.003. Epub 2006 Jun 19. J Cyst Fibros. 2007. PMID: 16784904 Free article.
Cystic fibrosis mutation testing in Italy.
Bombieri C, Pignatti PF. Bombieri C, et al. Genet Test. 2001 Fall;5(3):229-33. doi: 10.1089/10906570152742281. Genet Test. 2001. PMID: 11788089
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Castellani C, et al. Among authors: bombieri c. J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. J Cyst Fibros. 2008. PMID: 18456578 Free PMC article. Review.
Recommendations for the classification of diseases as CFTR-related disorders.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Bombieri C, et al. J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3. J Cyst Fibros. 2011. PMID: 21658649 Free article.
46 results