Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

42 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
CFTR gene variant IVS8-5T in disseminated bronchiectasis.
Pignatti PF, Bombieri C, Benetazzo M, Casartelli A, Trabetti E, Gilè LS, Martinati LC, Boner AL, Luisetti M. Pignatti PF, et al. Among authors: bombieri c. Am J Hum Genet. 1996 Apr;58(4):889-892. Am J Hum Genet. 1996. PMID: 8644755 Free PMC article. 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: bombieri c. Eur J Hum Genet. 2006 Jan;14(1):85-93. doi: 10.1038/sj.ejhg.5201498. Eur J Hum Genet. 2006. PMID: 16251901
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: bombieri c. 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. 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.
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: bombieri c. 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.
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.
Gomez Lira M, Benetazzo MG, Marzari MG, Bombieri C, Belpinati F, Castellani C, Cavallini GC, Mastella G, Pignatti PF. Gomez Lira M, et al. Among authors: bombieri c. Am J Hum Genet. 2000 Jun;66(6):2013-4. doi: 10.1086/302928. Am J Hum Genet. 2000. PMID: 10801389 Free PMC article. No abstract available.
42 results