{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:20:37Z","timestamp":1791141637410,"version":"4.1.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T00:00:00Z","timestamp":1115164800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2005,8]]},"DOI":"10.1038\/sj.ejhg.5201437","type":"journal-article","created":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T09:05:40Z","timestamp":1115197540000},"page":"959-964","source":"Crossref","is-referenced-by-count":42,"title":["Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs"],"prefix":"10.1038","volume":"13","author":[{"given":"Liborio","family":"Stuppia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Antonucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Binni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Brandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Grifone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Colosimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"De Santo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Gatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianfranco","family":"Gelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Majore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Calabrese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Palka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ravani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Rinaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Mario","family":"Tiboni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enzo","family":"Ballone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Venturoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Torrente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Calzolari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,5,4]]},"reference":[{"key":"BF5201437_CR1","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1126\/science.2570460","volume":"245","author":"B Kerem","year":"1989","unstructured":"Kerem B, Rommens JM, Buchanan JA et al: Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073\u20131080.","journal-title":"Science"},{"key":"BF5201437_CR2","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1002\/humu.1380040302","volume":"4","author":"Cystic Fibrosis Genetic Analysis Consortium","year":"1994","unstructured":"Cystic Fibrosis Genetic Analysis Consortium: Population variation of common cystic fibrosis mutations. Hum Mutat 1994; 4: 167\u2013177.","journal-title":"Hum Mutat"},{"key":"BF5201437_CR3","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/ng0496-348","volume":"12","author":"X Estivill","year":"1996","unstructured":"Estivill X : Complexity in a monogenic disease. Nat Genet 1996; 12: 348\u2013350.","journal-title":"Nat Genet"},{"key":"BF5201437_CR4","doi-asserted-by":"publisher","first-page":"1794","DOI":"10.1001\/jama.1992.03480130110034","volume":"267","author":"A Anguiano","year":"1992","unstructured":"Anguiano A, Oates RD, Amos JA et al: Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 1992; 267: 1794\u20131797.","journal-title":"JAMA"},{"key":"BF5201437_CR5","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/BF00218824","volume":"97","author":"V Dumur","year":"1996","unstructured":"Dumur V, Gervais R, Rigot JM et al: Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. Hum Genet 1996; 97: 7\u201310.","journal-title":"Hum Genet"},{"key":"BF5201437_CR6","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/BF00209403","volume":"95","author":"T Casals","year":"1995","unstructured":"Casals T, Bassas L, Ruiz-Romero J et al: Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 1995; 95: 205\u2013211.","journal-title":"Hum Genet"},{"key":"BF5201437_CR7","doi-asserted-by":"publisher","first-page":"1475","DOI":"10.1056\/NEJM199506013322204","volume":"332","author":"M Chillon","year":"1995","unstructured":"Chillon M, Casals T, Mercier B et al: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475\u20131480.","journal-title":"N Engl J Med"},{"key":"BF5201437_CR8","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1007\/s004390050518","volume":"100","author":"T Dork","year":"1997","unstructured":"Dork T, Dworniczak B, Aulehla-Scholz C et al: Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997; 100: 365\u2013377.","journal-title":"Hum Genet"},{"key":"BF5201437_CR9","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1002\/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J","volume":"16","author":"M Claustres","year":"2000","unstructured":"Claustres M, Guittard C, Bozon D et al: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000; 16: 143\u2013156.","journal-title":"Hum Mutat"},{"key":"BF5201437_CR10","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1007\/BF03343794","volume":"23","author":"C Quinzii","year":"2000","unstructured":"Quinzii C, Castellani C : The cystic fibrosis transmembrane regulator gene and male infertility. J Endocrinol Invest 2000; 23: 684\u2013689.","journal-title":"J Endocrinol Invest"},{"key":"BF5201437_CR11","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1016\/S0015-0282(98)00247-7","volume":"70","author":"K Jarvi","year":"1998","unstructured":"Jarvi K, McCallum S, Zielenski J et al: Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations. Fertil Steril 1998; 70: 724\u2013728.","journal-title":"Fertil Steril"},{"key":"BF5201437_CR12","doi-asserted-by":"publisher","first-page":"2217","DOI":"10.1001\/jama.281.23.2217","volume":"281","author":"V Mak","year":"1999","unstructured":"Mak V, Zielenski J, Tsui LC et al: Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. JAMA 1999; 281: 2217\u20132224.","journal-title":"JAMA"},{"key":"BF5201437_CR13","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/ng0293-151","volume":"3","author":"CS Chu","year":"1993","unstructured":"Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG : Genetic basis of variable exon-9 skipping in cystic fibrosis transmembrane conductance regulator messenger RNA. Nat Genet 1993; 3: 151\u2013156.","journal-title":"Nat Genet"},{"key":"BF5201437_CR14","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1086\/381001","volume":"74","author":"JD Groman","year":"2004","unstructured":"Groman JD, Hefferon TW, Casals T et al: Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004; 74: 176\u2013179.","journal-title":"Am J Hum Genet"},{"key":"BF5201437_CR15","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1093\/humrep\/16.3.529","volume":"16","author":"MV Meng","year":"2001","unstructured":"Meng MV, Black LD, Cha I et al: Impaired spermatogenesis in men with congenital absence of the vas deferens. Hum Reprod 2001; 16: 529\u2013533.","journal-title":"Hum Reprod"},{"issue":"Suppl 2","key":"BF5201437_CR16","doi-asserted-by":"publisher","first-page":"S2","DOI":"10.1038\/sj.ejhg.5200487","volume":"8","author":"E Dequeker","year":"2000","unstructured":"Dequeker E, Cuppens H, Dodge J et al: Recommendations for quality improvement in genetic testing for cystic fibrosis. European concerted action on cystic fibrosis. Eur J Hum Genet 2000; 8 (Suppl 2): S2\u2013S24.","journal-title":"Eur J Hum Genet"},{"key":"BF5201437_CR17","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1038\/sj.ejhg.5200805","volume":"10","author":"C Foresta","year":"2002","unstructured":"Foresta C, Ferlin A, Gianaroli L, Dallapiccola B : Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 2002; 10: 303\u2013312.","journal-title":"Eur J Hum Genet"},{"key":"BF5201437_CR18","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1034\/j.1399-0004.2003.00128.x","volume":"64","author":"DG Cruger","year":"2003","unstructured":"Cruger DG, Agerholm I, Byriel L, Fedder J, Bruun-Petersen G : analysis of males from intracytoplasmic sperm injection couples. Clin Genet 2003; 64: 198\u2013203.","journal-title":"Clin Genet"},{"key":"BF5201437_CR19","unstructured":"World Health Organization: WHO Laboratory Manual for the Examination of Human Semen and Sperm\u2013Cervical Mucus Interaction, 3rd edn. Cambridge, UK: Cambridge University Press, 1992."},{"key":"BF5201437_CR20","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1172\/JCI639","volume":"101","author":"H Cuppens","year":"1998","unstructured":"Cuppens H, Lin W, Jaspers M et al: Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998; 101: 487\u2013496.","journal-title":"J Clin Invest"},{"key":"BF5201437_CR21","doi-asserted-by":"publisher","first-page":"1094","DOI":"10.1093\/humrep\/deh223","volume":"19","author":"D Dayangac","year":"2004","unstructured":"Dayangac D, Erdem H, Yilmaz E et al: Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 2004; 19: 1094\u20131100.","journal-title":"Hum Reprod"},{"key":"BF5201437_CR22","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1093\/HUMREP\/11.3.513","volume":"11","author":"K Van der Ven","year":"1996","unstructured":"Van der Ven K, Messer L, van der Ven H, Jeyendran RS, Ober C : Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Hum Reprod 1996; 11: 513\u2013517.","journal-title":"Hum Reprod"},{"key":"BF5201437_CR23","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1093\/humrep\/17.1.13","volume":"17","author":"GR Dohle","year":"2002","unstructured":"Dohle GR, Halley DJ, Van Hemel JO et al: Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002; 17: 13\u201316.","journal-title":"Hum Reprod"},{"key":"BF5201437_CR24","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/S0015-0282(98)00050-8","volume":"69","author":"JH Tuerlings","year":"1998","unstructured":"Tuerlings JH, Mol B, Kremer JA et al: Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. Fertil Steril 1998; 69: 899\u2013903.","journal-title":"Fertil Steril"},{"key":"BF5201437_CR25","doi-asserted-by":"publisher","first-page":"3035","DOI":"10.1093\/humrep\/14.12.3035","volume":"14","author":"N Pallares-Ruiz","year":"1999","unstructured":"Pallares-Ruiz N, Carles S, Des Georges M et al: Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. Hum Reprod 1999; 14: 3035\u20133040.","journal-title":"Hum Reprod"},{"key":"BF5201437_CR26","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1093\/humrep\/deh134","volume":"19","author":"KL Danziger","year":"2004","unstructured":"Danziger KL, Black LD, Keiles SB, Kammesheidt A, Turek PJ : Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod 2004; 19: 540\u2013546.","journal-title":"Hum Reprod"},{"key":"BF5201437_CR27","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1136\/jmg.35.7.594","volume":"35","author":"A de Meeus","year":"1998","unstructured":"de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M : Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J Med Genet 1998; 35: 594\u2013596.","journal-title":"J Med Genet"},{"key":"BF5201437_CR28","doi-asserted-by":"publisher","first-page":"3504","DOI":"10.1073\/pnas.0400182101","volume":"101","author":"TW Hefferon","year":"2004","unstructured":"Hefferon TW, Groman JD, Yurk CE, Cutting GR : A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proc Natl Acad Sci USA 2004; 101: 3504\u20133509.","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201437.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201437","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201437.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:34:10Z","timestamp":1684373650000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,4]]},"references-count":28,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["BF5201437"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201437","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,4]]}}}