{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T20:09:06Z","timestamp":1774123746978,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":1292,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Cystic Fibrosis"],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1016\/j.jcf.2009.10.003","type":"journal-article","created":{"date-parts":[[2009,11,8]],"date-time":"2009-11-08T09:15:38Z","timestamp":1257671738000},"page":"29-35","source":"Crossref","is-referenced-by-count":23,"title":["A 10-year large-scale cystic fibrosis carrier screening in the Italian population"],"prefix":"10.1016","volume":"9","author":[{"given":"Luigi","family":"Picci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilena","family":"Cameran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oriana","family":"Marangon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Marzenta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Chiara","family":"Frigo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jcf.2009.10.003_bib1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1046\/j.1469-1809.2003.00028.x","article-title":"The phenotypic consequences of CFTR mutations","volume":"67","author":"Rowntree","year":"2003","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib2","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1001\/jama.1992.03480130110034","article-title":"Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis","volume":"267","author":"Anguiano","year":"1992","journal-title":"Jama"},{"key":"10.1016\/j.jcf.2009.10.003_bib3","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1056\/NEJM199506013322204","article-title":"Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens","volume":"332","author":"Chillon","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jcf.2009.10.003_bib4","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.addr.2008.09.010","article-title":"Gene transfer to the lung: lessons learned from more than 2 decades of CF gene therapy","volume":"61","author":"Griesenbach","year":"2009","journal-title":"Adv Drug Deliv Rev"},{"key":"10.1016\/j.jcf.2009.10.003_bib5","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/nrd2780","article-title":"Chloride channels as drug targets","volume":"8","author":"Verkman","year":"2009","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.jcf.2009.10.003_bib6","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1126\/science.2475911","article-title":"Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA","volume":"245","author":"Riordan","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.jcf.2009.10.003_bib7","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/00125817-200103000-00010","article-title":"Laboratory standards and guidelines for population-based cystic fibrosis carrier screening","volume":"3","author":"Grody","year":"2001","journal-title":"Genet Med"},{"key":"10.1016\/j.jcf.2009.10.003_bib8","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/01.GIM.0000139506.11694.7C","article-title":"Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel","volume":"6","author":"Watson","year":"2004","journal-title":"Genet Med"},{"issue":"Suppl 43","key":"10.1016\/j.jcf.2009.10.003_bib9","first-page":"2","article-title":"Atypical cystic fibrosis \u2014 diagnostic and management dilemmas","volume":"96","author":"Wallis","year":"2003","journal-title":"J R Soc Med"},{"key":"10.1016\/j.jcf.2009.10.003_bib10","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/BF00208963","article-title":"Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations","volume":"95","author":"Bonizzato","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib11","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1136\/jmg.33.6.475","article-title":"Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure","volume":"33","author":"Castaldo","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib12","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1093\/clinchem\/45.7.957","article-title":"Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations","volume":"45","author":"Castaldo","year":"1999","journal-title":"Clin Chem"},{"key":"10.1016\/j.jcf.2009.10.003_bib13","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/BF00217117","article-title":"Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening","volume":"89","author":"Chehab","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib14","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/0888-7543(91)90503-7","article-title":"Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene","volume":"10","author":"Zielenski","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/j.jcf.2009.10.003_bib15","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/0888-7543(92)90152-I","article-title":"Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole Cystic Fibrosis Transmembrane Regulator (CFTR) coding regions and splice site junctions","volume":"13","author":"Fanen","year":"1992","journal-title":"Genomics"},{"key":"10.1016\/j.jcf.2009.10.003_bib16","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s004390100490","article-title":"langonne S, Ferec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (d-HPLC): major implications for genetic counselling","volume":"108","author":"Le Marechal","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib17","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.1996.tb04338.x","article-title":"Mild CF in a delta F508\/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?","volume":"49","author":"Kosztol\u00e1nyi","year":"1996","journal-title":"Clin Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib18","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1093\/humrep\/15.7.1476","article-title":"Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens","volume":"15","author":"Casals","year":"2000","journal-title":"Hum Reprod"},{"key":"10.1016\/j.jcf.2009.10.003_bib19","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1471-2350-5-19","article-title":"Des Georges M. Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations","volume":"5","author":"Claustres","year":"2004","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib20","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s004390050518","article-title":"Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens","volume":"100","author":"D\u00f6rk","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib21","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1093\/molehr\/gal046","article-title":"Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens","volume":"12","author":"Radpour","year":"2006","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.jcf.2009.10.003_bib22","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/1096-8628(20001211)95:4<361::AID-AJMG12>3.0.CO;2-K","article-title":"Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study","volume":"95","author":"Monaghan","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib23","first-page":"821","article-title":"Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene","volume":"27","author":"Reboul","year":"2003","journal-title":"Gastroenterol Clin Biol"},{"key":"10.1016\/j.jcf.2009.10.003_bib24","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1086\/302928","article-title":"High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia","volume":"66","author":"Gomez Lira","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib25","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1111\/j.1651-2227.2002.tb01646.x","article-title":"Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis","volume":"91","author":"Padoan","year":"2002","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jcf.2009.10.003_bib26","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1007\/s00439-001-0631-0","article-title":"Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A\u2192G, 2751+2T\u2192A, 296+1G\u2192C, 1717-9T\u2192C-D565G) and one nonsense mutation (E822X) in the CFTR gene","volume":"109","author":"Tzetis","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib27","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1093\/hmg\/2.7.1015","article-title":"Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers","volume":"2","author":"Morral","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jcf.2009.10.003_bib28","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S1525-1578(10)60567-3","article-title":"Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations","volume":"7","author":"Schrijver","year":"2005","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.jcf.2009.10.003_bib29","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1097\/01.GIM.0000127268.65149.69","article-title":"Cystic fibrosis screening: lessons learned from the first 320, 000 patients","volume":"6","author":"Strom","year":"2004","journal-title":"Genet Med"},{"key":"10.1016\/j.jcf.2009.10.003_bib30","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1365-2605.2004.00485.x","article-title":"CFTR mutations and polymorphisms in male infertility","volume":"27","author":"Cuppens","year":"2004","journal-title":"Int J Androl"}],"container-title":["Journal of Cystic Fibrosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569199309001283?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569199309001283?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,23]],"date-time":"2020-05-23T14:31:52Z","timestamp":1590244312000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1569199309001283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["S1569199309001283"],"URL":"https:\/\/doi.org\/10.1016\/j.jcf.2009.10.003","relation":{},"ISSN":["1569-1993"],"issn-type":[{"value":"1569-1993","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}