{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T00:06:56Z","timestamp":1769213216037,"version":"3.49.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"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":[[2002,10]]},"DOI":"10.1038\/sj.ejhg.5200850","type":"journal-article","created":{"date-parts":[[2002,10,3]],"date-time":"2002-10-03T10:56:43Z","timestamp":1033642603000},"page":"583-590","source":"Crossref","is-referenced-by-count":63,"title":["Demographics of the UK cystic fibrosis population: implications for neonatal screening"],"prefix":"10.1038","volume":"10","author":[{"given":"Jonathan","family":"McCormick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael W","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gita","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Culross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anil","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2002,10,2]]},"reference":[{"key":"BF5200850_CR1","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.1126\/science.2475911","volume":"245","author":"JR Riordan","year":"1989","unstructured":"Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 1989 245: 1066\u20131073","journal-title":"Science"},{"key":"BF5200850_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1542\/peds.107.1.1","volume":"107","author":"PM Farrell","year":"2001","unstructured":"Farrell PM, Kosorok MR, Rock MJ et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth Pediatrics 2001 107: 1\u201313","journal-title":"Pediatrics"},{"key":"BF5200850_CR3","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1136\/adc.77.6.493","volume":"77","author":"JA Dodge","year":"1997","unstructured":"Dodge JA, Morison S, Lewis PA et al. Incidence, population, and survival of cystic fibrosis in the UK, 1968\u201395 Arch Dis Child 1997 77: 493\u2013496","journal-title":"Arch Dis Child"},{"key":"BF5200850_CR4","volume-title":"(Cochrane Review). In the Cochrane Library","author":"ME Merelle","year":"2000","unstructured":"Merelle ME, Lees CM, Nagelkerke NF et al. Newborn Screening for Cystic Fibrosis (Cochrane Review). In the Cochrane Library 2000 4: Oxford: Update Software"},{"key":"BF5200850_CR5","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1136\/adc.66.1_Spec_No.29","volume":"66","author":"S Chatfield","year":"1991","unstructured":"Chatfield S, Owen G, Ryley HC et al. Neonatal Screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening Arch Dis Child 1991 66: 29\u201333","journal-title":"Arch Dis Child"},{"key":"BF5200850_CR6","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1177\/096914139700400109","volume":"4","author":"RJ Pollitt","year":"1997","unstructured":"Pollitt RJ, Dalton A, Evans S et al. Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step J Med Screen 1997 4: 23\u201328","journal-title":"J Med Screen"},{"key":"BF5200850_CR7","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/humu.1380060406","volume":"6","author":"MJ Schwarz","year":"1995","unstructured":"Schwarz MJ, Malone GM, Haworth A et al. Cystic Fibrosis Mutation Analysis: Report from 22 UK Regional Genetics Laboratories Hum Mut 1995 6: 326\u2013333","journal-title":"Hum Mut"},{"key":"BF5200850_CR8","unstructured":"Cystic Fibrosis Patient Registry 2000 \u2013 Annual Data Report September 2001."},{"key":"BF5200850_CR9","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1136\/adc.68.4.464","volume":"68","author":"MR Green","year":"1993","unstructured":"Green MR, Weaver LT, Heeley AF et al. Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history Arch Dis Child 1993 68: 464\u2013467","journal-title":"Arch Dis Child"},{"key":"BF5200850_CR10","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J","volume":"10","author":"X Estivill","year":"1997","unstructured":"Estivill X, Bancells C, Ramos C et al. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations Hum Mut 1997 10: 135\u2013154","journal-title":"Hum Mut"},{"key":"BF5200850_CR11","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1017\/S0003480097006477","volume":"61","author":"S Rendine","year":"1997","unstructured":"Rendine S, Calafell F, Capello N et al. Genetic Distribution of cystic fibrosis mutations in Italy. 1 Regional distribution Ann Hum Genet 1997 61: 411\u2013424","journal-title":"Ann Hum Genet"},{"key":"BF5200850_CR12","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/BF02346181","volume":"97","author":"B Tummler","year":"1996","unstructured":"Tummler B, Storrs T, Dziadek V et al. Geographic distribution and origin of CFTR mutations in Germany Hum Genet 1996 97: 727\u2013731","journal-title":"Hum Genet"},{"key":"BF5200850_CR13","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1136\/jmg.32.12.972","volume":"32","author":"SM Cashman","year":"1995","unstructured":"Cashman SM, Patino A, Delgado MG et al. The Irish Cystic Fibrosis Database J Med Genet 1995 32: 972\u2013975","journal-title":"J Med Genet"},{"key":"BF5200850_CR14","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1034\/j.1399-0004.2001.590106.x","volume":"59","author":"A Goldman","year":"2001","unstructured":"Goldman A, Labrum R, Claustres M et al. The molecular basis of cystic fibrosis in South Africa Clin Genet 2001 59: 37\u201341","journal-title":"Clin Genet"},{"key":"BF5200850_CR15","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1002\/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L","volume":"11","author":"G Malone","year":"1998","unstructured":"Malone G, Haworth A, Schwarz MJ, Cuppens H, Super M . Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T&gt;C), 1161delC and 621+2(T&gt;C) Hum Mut 1998 11: 152\u2013157","journal-title":"Hum Mut"},{"key":"BF5200850_CR16","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1136\/adc.68.1.120","volume":"68","author":"IM Bowler","year":"1993","unstructured":"Bowler IM, Estlin EJ, Littlewood JM . Cystic Fibrosis in Asians Arch Dis Child 1993 68: 120\u2013122","journal-title":"Arch Dis Child"},{"key":"BF5200850_CR17","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/S0954-6111(05)80065-4","volume":"88","author":"DA Spencer","year":"1994","unstructured":"Spencer DA, Venkataraman M, Higgins S, Stevenson K, Weller PH . Cystic fibrosis in children from ethnic minorities in the West Midlands Respir Med 1994 88: 671\u2013675","journal-title":"Respir Med"},{"key":"BF5200850_CR18","first-page":"355","volume":"104","author":"M Kabra","year":"1996","unstructured":"Kabra M, Ghosh M, Kabra SK, Khanna A, Verma IC . Delta F508 molecular mutation in Indian Children with cystic fibrosis Indian J Med Res 1996 104: 355\u2013810","journal-title":"Indian J Med Res"},{"key":"BF5200850_CR19","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1093\/oxfordjournals.aje.a009172","volume":"145","author":"M Rosenfeld","year":"1997","unstructured":"Rosenfeld M, Davis R, Fitzsimmons S, Pepe M, Ramsey B . Gender gap in cystic fibrosis mortality Am J Epidemiol 1997 145: 794\u2013803","journal-title":"Am J Epidemiol"},{"key":"BF5200850_CR20","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1378\/chest.117.6.1656","volume":"117","author":"A Fogarty","year":"2000","unstructured":"Fogarty A, Hubbard R, Britton J . International Comparison of Median Age at Death from Cystic Fibrosis Chest 2000 117: 1656\u20131660","journal-title":"Chest"},{"key":"BF5200850_CR21","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1016\/S0022-3476(89)80134-9","volume":"114","author":"E Kerem","year":"1989","unstructured":"Kerem E, Corey M, Kerem B et al. Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus J Pediatr 1989 114: 767\u2013773","journal-title":"J Pediatr"},{"key":"BF5200850_CR22","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1093\/oxfordjournals.aje.a008664","volume":"143","author":"M Corey","year":"1996","unstructured":"Corey M, Farewell V . Determinants of mortality from cystic fibrosis in Canada, 1970\u20131989 Am J Epidemiol 1996 143: 1007\u20131017","journal-title":"Am J Epidemiol"},{"key":"BF5200850_CR23","doi-asserted-by":"publisher","first-page":"F1","DOI":"10.1136\/fn.80.1.F1","volume":"80","author":"DL Waters","year":"1999","unstructured":"Waters DL, Wilcken B, Irwig L et al. Clinical outcomes of newborn screening for cystic fibrosis Arch Dis Child Fetal Neonatal Ed 1999 80: F1\u2013F7","journal-title":"Arch Dis Child Fetal Neonatal Ed"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200850","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200850.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200850.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:28:42Z","timestamp":1684373322000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200850"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":23,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["BF5200850"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200850","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}