{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T17:01:29Z","timestamp":1726419689361},"reference-count":8,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.ijcard.2013.12.242","type":"journal-article","created":{"date-parts":[[2014,1,11]],"date-time":"2014-01-11T04:45:33Z","timestamp":1389415533000},"page":"276-277","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot"],"prefix":"10.1016","volume":"172","author":[{"given":"Zahurul A.","family":"Bhuiyan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulrahman","family":"Alswaid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Belfiore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saleh S.","family":"Al-Ghamdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juno","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrg","family":"Schlaepffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ijcard.2013.12.242_bb0005","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/bdra.20541","article-title":"Chromosomal abnormalities among children born with conotruncal cardiac defects","volume":"85","author":"Lammer","year":"2009","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0010","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1056\/NEJM199308263290901","article-title":"Long-term outcome in patients undergoing repair of tetralogy of Fallot","volume":"329","author":"Murphy","year":"1993","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0015","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.jtcvs.2012.12.028","article-title":"22q11.2 deletion syndrome is associated with perioperative outcome in tetralogy of Fallot","volume":"146","author":"Mercer-Rosa","year":"2013","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0020","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PAT.0b013e32834635a9","article-title":"Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot","volume":"43","author":"Wang","year":"2011","journal-title":"Pathology"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0025","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1161\/CIRCULATIONAHA.109.863076","article-title":"Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants","volume":"120","author":"Kapa","year":"2009","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0030","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1007\/s00439-012-1156-4","article-title":"Coexisting mutations\/polymorphisms of the long QT syndrome genes in patients with repaired tetralogy of Fallot are associated with the risks of life-threatening events","volume":"131","author":"Chiu","year":"2012","journal-title":"Hum Genet"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0035","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/S0008-6363(98)00002-9","article-title":"L-type calcium current in human ventricular myocytes at a physiological temperature from children with tetralogy of Fallot","volume":"38","author":"Pelzmann","year":"1998","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.ijcard.2013.12.242_bb0040","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.hrthm.2008.01.020","article-title":"Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation","volume":"5","author":"Bhuiyan","year":"2008","journal-title":"Heart Rhythm"}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016752731400117X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016752731400117X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,7]],"date-time":"2018-10-07T07:23:44Z","timestamp":1538897024000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S016752731400117X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["S016752731400117X"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2013.12.242","relation":{},"ISSN":["0167-5273"],"issn-type":[{"type":"print","value":"0167-5273"}],"subject":[],"published":{"date-parts":[[2014,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2013.12.242","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}