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15 results
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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: belpinati f. Clin Chem Lab Med. 2008;46(7):980-4. doi: 10.1515/CCLM.2008.189. Clin Chem Lab Med. 2008. PMID: 18605960
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: belpinati f. 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.
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G. Bombieri C, et al. Among authors: belpinati f. Hum Genet. 2000 Feb;106(2):172-8. doi: 10.1007/s004390051025. Hum Genet. 2000. PMID: 10746558 Free article.
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: belpinati f. 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: belpinati f. Eur J Hum Genet. 2005 Feb;13(2):184-92. doi: 10.1038/sj.ejhg.5201306. Eur J Hum Genet. 2005. PMID: 15536480
15 results