{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:39:19Z","timestamp":1780616359602,"version":"3.54.1"},"reference-count":59,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1016\/j.ejmg.2014.12.002","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T04:01:02Z","timestamp":1418356862000},"page":"75-85","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"title":["Associated noncardiac congenital anomalies among cases with congenital heart defects"],"prefix":"10.1016","volume":"58","author":[{"given":"Claude","family":"Stoll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Dott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Paule","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.12.002_bib1","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ajhg.2014.03.007","article-title":"Rare variants in NR2F2 cause congenital heart defects in humans","volume":"94","author":"Al Turki","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2014.12.002_bib2","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1747-0803.2011.00585.x","article-title":"Critical congenital heart disease-utility of routine screening for chromosomal and other extracardiac malformations","volume":"7","author":"Baker","year":"2012","journal-title":"Congenit. Heart Dis."},{"key":"10.1016\/j.ejmg.2014.12.002_bib3","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/bdra.23162","article-title":"Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada","volume":"97","author":"Bedard","year":"2013","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib4","doi-asserted-by":"crossref","first-page":"155","DOI":"10.5694\/mja12.10811","article-title":"Congenital heart disease: current knowledge about causes and inheritance","volume":"197","author":"Blue","year":"2012","journal-title":"Med. J. Aust."},{"key":"10.1016\/j.ejmg.2014.12.002_bib5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1017\/S1047951100004960","article-title":"The Italian Multicentre study on epidemiology of congenital heart disease: first step of the analysis","volume":"9","author":"Bosi","year":"1999","journal-title":"Cardiol. Young"},{"key":"10.1016\/j.ejmg.2014.12.002_bib6","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1542\/peds.98.5.911","article-title":"Periconceptional multivitamin use and occurrence of conotruncal heart defects: results from a population-based case\u2013control study","volume":"9","author":"Botto","year":"1996","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2014.12.002_bib7","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/bdra.20403","article-title":"National Birth Defects Prevention Study, Seeking causes: classifying and evaluating congenital heart defects in etiologic studies","volume":"79","author":"Botto","year":"2007","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib8","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/hrt.39.4.445","article-title":"Incidence of congenital heart disease in Blackpool, 1957\u20131971","volume":"39","author":"Bound","year":"1977","journal-title":"Br. Heart J."},{"key":"10.1016\/j.ejmg.2014.12.002_bib9","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1111\/j.1440-1754.1994.tb00691.x","article-title":"Congenital heart disease: a 10 year cohort","volume":"30","author":"Bower","year":"1994","journal-title":"J.\u00a0Paediatr. Child Health"},{"key":"10.1016\/j.ejmg.2014.12.002_bib10","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1053\/siny.2000.0032","article-title":"Congenital heart malformations: aetiology and associations","volume":"6","author":"Brennan","year":"2001","journal-title":"Semin. Neonatol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib11","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1023\/A:1025312603880","article-title":"Congenital heart defects: 15 years of experience of the Emilia\u2013Romagna Registry (Italy)","volume":"18","author":"Calzolari","year":"2003","journal-title":"Eur. J. Epidemiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib12","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1136\/hrt.21.1.40","article-title":"Incidence of congenital heart disease in children born in Gothenburg, 1941\u20131950","volume":"21","author":"Carlgren","year":"1959","journal-title":"Br. Heart J."},{"key":"10.1016\/j.ejmg.2014.12.002_bib13","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1002\/ajmg.a.36118","article-title":"Risk and protective factors in the origin of conotruncal defects of heart\u2013a population-based case\u2013control study","volume":"161A","author":"Cs\u00e1ky-Szunyogh","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"10.1016\/j.ejmg.2014.12.002_bib14","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1111\/j.1365-3016.2008.00987.x","article-title":"Descriptive epidemiology of congenital heart disease in Northern England","volume":"23","author":"Dadvand","year":"2009","journal-title":"Pediatr. Perinat. Epidemiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib15","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1136\/hrt.46.1.55","article-title":"Congenital heart disease among 160 480 liveborn children in Liverpool 1960 to 1969. Implications for surgical treatment","volume":"46","author":"Dickinson","year":"1981","journal-title":"Br. Heart J."},{"key":"10.1016\/j.ejmg.2014.12.002_bib16","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s00431-009-1064-3","article-title":"Spectrum of congenital heart defects in Croatia","volume":"169","author":"Dilber","year":"2010","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2014.12.002_bib17","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1017\/S1047951104006043","article-title":"A\u00a0population-based study of extra-cardiac anomalies in children with congenital cardiac malformations","volume":"14","author":"Eskedal","year":"2004","journal-title":"Cardiol. Young"},{"key":"10.1016\/j.ejmg.2014.12.002_bib18","series-title":"Congenital Heart Defects in Europe 2000\u20132005","author":"EUROCAT Special Report","year":"2009"},{"key":"10.1016\/j.ejmg.2014.12.002_bib19","unstructured":"EUROCAT: http:\/\/www.eurocat-network.eu\/. 2009"},{"key":"10.1016\/j.ejmg.2014.12.002_bib20","first-page":"794","article-title":"Incidence of congenital heart disease in children born to residents of Olmstead County, Minnesota, 1950\u20131969","volume":"46","author":"Feldt","year":"1971","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.ejmg.2014.12.002_bib21","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/oxfordjournals.aje.a113979","article-title":"Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study","volume":"121","author":"Ferencz","year":"1985","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib22","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/tera.1420350311","article-title":"Cardiac and noncardiac malformations observations in a population-based study","volume":"35","author":"Ferencz","year":"1987","journal-title":"Teratology"},{"key":"10.1016\/j.ejmg.2014.12.002_bib23","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1017\/S1047951100010349","article-title":"Epidemiology of cardiovascular malformations: the state of the art","volume":"1","author":"Ferencz","year":"1991","journal-title":"Cardiol. Young"},{"key":"10.1016\/j.ejmg.2014.12.002_bib24","doi-asserted-by":"crossref","first-page":"e000064","DOI":"10.1161\/JAHA.113.000064","article-title":"Impact of prenatal risk factors on congenital heart disease in the current era","volume":"2","author":"Fung","year":"2013","journal-title":"J.\u00a0Am. Heart Assoc."},{"issue":"2 Pt 2","key":"10.1016\/j.ejmg.2014.12.002_bib25","first-page":"375","article-title":"Report of the New England regional infant cardiac program","volume":"65","author":"Fyler","year":"1980","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2014.12.002_bib26","first-page":"450","article-title":"Congenital extracardial malformations accompanying congenital heart disease","volume":"6","author":"Gallo","year":"1976","journal-title":"G.\u00a0Ital. Cardiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib27","first-page":"485","article-title":"Extracardiac abnormalities in infants with congenital heart disease","volume":"55","author":"Greenwood","year":"1975","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2014.12.002_bib28","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0167-5273(98)00354-4","article-title":"Syndromes and malformations associated with congenital heart disease in a population-based study","volume":"68","author":"Grech","year":"1999","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib29","first-page":"159","article-title":"Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies","volume":"47","author":"G\u00fc\u00e7er","year":"2005","journal-title":"Turk. J. Pediatr."},{"key":"10.1016\/j.ejmg.2014.12.002_bib30","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1136\/jmg.31.11.858","article-title":"Genetic study of congenital heart defects in Northern Ireland (1974\u20131978)","volume":"31","author":"Hanna","year":"1994","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2014.12.002_bib31","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/0002-9149(78)90635-5","article-title":"Congenital heart disease in a cohort of 19,502 births with long-term follow-up","volume":"42","author":"Hoffman","year":"1978","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib32","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.a.36366","article-title":"Stillbirth: the heart of the matter","volume":"164A","author":"Jorgensen","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2014.12.002_bib33","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1002\/(SICI)1096-9926(199912)60:6<334::AID-TERA5>3.0.CO;2-S","article-title":"CHARGE association in newborns: a registry-based study","volume":"60","author":"K\u00e4llen","year":"1999","journal-title":"Teratology"},{"key":"10.1016\/j.ejmg.2014.12.002_bib34","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/ajmg.1201","article-title":"VATER non-random association of congenital malformations: study based on data from four malformation registers","volume":"101","author":"K\u00e4llen","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2014.12.002_bib35","first-page":"17","article-title":"Congenital heart disease in Liverpool: 1960\u201369","volume":"44","author":"Kenna","year":"1975","journal-title":"Q.\u00a0J. Med."},{"key":"10.1016\/j.ejmg.2014.12.002_bib36","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1111\/j.1440-1754.1993.tb00531.x","article-title":"The incidence of congenital heart defects in the first year of life","volume":"29","author":"Kidd","year":"1993","journal-title":"J.\u00a0Paediatr. Child Health"},{"key":"10.1016\/j.ejmg.2014.12.002_bib37","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1203\/00006450-198703000-00001","article-title":"Cardiac morphogenesis \u2013 recent research advances","volume":"21","author":"Kirby","year":"1987","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ejmg.2014.12.002_bib38","first-page":"789","article-title":"Malformation patterns in children with congenital heart disease","volume":"141","author":"Kramer","year":"1987","journal-title":"Am. J. Dis. Child."},{"key":"10.1016\/j.ejmg.2014.12.002_bib39","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/ejhg.2012.155","article-title":"Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities","volume":"21","author":"Lalani","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2014.12.002_bib40","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1111\/j.1651-2227.1980.tb07332.x","article-title":"Some epidemiological aspects of congenital heart disease in Denmark","volume":"69","author":"Laursen","year":"1980","journal-title":"Acta Paediatr. Scand."},{"key":"10.1016\/j.ejmg.2014.12.002_bib41","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1002\/bdra.23104","article-title":"Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995\u20132002","volume":"97","author":"Lowry","year":"2013","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib42","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1111\/j.1651-2227.2007.00381.x","article-title":"Congenital heart defects\u2013chromosomal anomalies, syndromes and extracardiac malformations","volume":"96","author":"Meberg","year":"2007","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ejmg.2014.12.002_bib43","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.jpeds.2010.12.051","article-title":"Congenital heart defects and major structural noncardiac anomalies, Atlanta, Georgia, 1968 to 2005","volume":"159","author":"Miller","year":"2011","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.ejmg.2014.12.002_bib44","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1161\/01.CIR.43.3.323","article-title":"Congenital heart disease in 56,109 births","volume":"43","author":"Mitchell","year":"1971","journal-title":"Circulation"},{"key":"10.1016\/j.ejmg.2014.12.002_bib45","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1016\/S0735-1097(96)00381-6","article-title":"Trends and outcomes after prenatal diagnosis of congenital cardiac malformations by fetal echocardiography in a well defined birth population, Atlanta, Georgia, 1990\u20131994","volume":"28","author":"Monta\u00f1a","year":"1996","journal-title":"J.\u00a0Am. Coll. Cardiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib46","series-title":"Developmental mechanisms of heart disease","first-page":"655","article-title":"EUROCAT Working Party on Congenital Heart Disease. EUROCAT Subproject on epidemiology of congenital heart disease: first analysis of the completed study","author":"Pexieder","year":"1995"},{"key":"10.1016\/j.ejmg.2014.12.002_bib47","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/s002469900101","article-title":"Noncardiac malformations at major congenital heart defects","volume":"18","author":"Pradat","year":"1997","journal-title":"Pediatr. Cardiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib48","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/bdra.10012","article-title":"Guidelines for case classification for the national birth defects prevention study","volume":"67","author":"Rasmussen","year":"2003","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib49","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/bdra.20412","article-title":"Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects program","volume":"79","author":"Riehle-Colarusso","year":"2007","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib50","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1017\/S1047951104004081","article-title":"Congenital cardiac malformations in Iceland from 1990 through 1999","volume":"14","author":"Stephensen","year":"2004","journal-title":"Cardiol. Young"},{"key":"10.1016\/j.ejmg.2014.12.002_bib51","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/bdra.20062","article-title":"Neural tube defects and associated anomalies in South Carolina","volume":"70","author":"Stevenson","year":"2004","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib52","series-title":"Prevention of physical and mental congenital defects, Part B","first-page":"157","article-title":"The Northeastern France birth defects monitoring system","author":"Stoll","year":"1985"},{"key":"10.1016\/j.ejmg.2014.12.002_bib53","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1007\/BF00144842","article-title":"Risks factors in congenital heart diseases","volume":"5","author":"Stoll","year":"1989","journal-title":"Eur. J. Epidemiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib54","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/pd.34","article-title":"Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe","volume":"21","author":"Stoll","year":"2001","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2014.12.002_bib55","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/uog.2710","article-title":"Prenatal detection of heart defects in a non-selected population of 30,149 fetuses-detection rates and outcome","volume":"27","author":"Tegnander","year":"2006","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib56","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1136\/hrt.82.1.34","article-title":"Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study","volume":"82","author":"Tennstedt","year":"1999","journal-title":"Heart"},{"key":"10.1016\/j.ejmg.2014.12.002_bib57","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1136\/jmedgenet-2013-102240","article-title":"ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome","volume":"51","author":"Venturin","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2014.12.002_bib58","first-page":"15","article-title":"Extracardiac malformations associated with congenital heart disease","volume":"7\/1","author":"Wallgren","year":"1978","journal-title":"Eur. J. Cardiol."},{"key":"10.1016\/j.ejmg.2014.12.002_bib59","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1016\/j.jpedsurg.2005.06.004","article-title":"Congenital heart defect with associated malformations in children","volume":"40","author":"Wojtalik","year":"2005","journal-title":"J.\u00a0Pediat. Surg."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214002134?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214002134?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:39Z","timestamp":1761709299000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214002134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":59,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["S1769721214002134"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.12.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Associated noncardiac congenital anomalies among cases with congenital heart defects","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}