{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:18:24Z","timestamp":1767705504921},"reference-count":30,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1016\/j.gene.2013.10.033","type":"journal-article","created":{"date-parts":[[2013,10,24]],"date-time":"2013-10-24T04:05:19Z","timestamp":1382587519000},"page":"40-43","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome"],"prefix":"10.1016","volume":"534","author":[{"given":"Jan J.J.","family":"Aalberts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian J.","family":"Meijboom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette","family":"Polko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan D.H.","family":"Jongbloed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henriette","family":"van der Wal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Osinga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janneke","family":"Timmermans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"de Backer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marian K.","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dirk J.","family":"van Veldhuisen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M.W.","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara J.M.","family":"Mulder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten P.","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.10.033_bb0005","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/BF03086168","article-title":"The many faces of aggressive aortic pathology: Loeys\u2013Dietz syndrome","volume":"16","author":"Aalberts","year":"2008","journal-title":"Neth. Heart J."},{"key":"10.1016\/j.gene.2013.10.033_bb0010","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1093\/eurjhf\/hfq127","article-title":"Evidence for Marfan cardiomyopathy","volume":"12","author":"Alpendurada","year":"2010","journal-title":"Eur. J. Heart Fail."},{"key":"10.1016\/j.gene.2013.10.033_bb0015","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1056\/NEJM200005043421807","article-title":"Role of transforming growth factor beta in human disease","volume":"342","author":"Blobe","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2013.10.033_bb0020","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1097\/01.hco.0000162398.21972.cd","article-title":"Molecular genetics of Marfan syndrome","volume":"20","author":"Boileau","year":"2005","journal-title":"Curr. Opin. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0025","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/S0002-9149(03)00039-0","article-title":"Left ventricular function in the Marfan syndrome without significant valvular regurgitation","volume":"91","author":"Chatrath","year":"2003","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0030","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/ng1194-264","article-title":"A second locus for Marfan syndrome maps to chromosome 3p24.2\u2013p25","volume":"8","author":"Collod","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0035","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.ijcard.2005.10.010","article-title":"Primary impairment of left ventricular function in Marfan syndrome","volume":"112","author":"De Backer","year":"2006","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0040","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1006\/geno.1993.1349","article-title":"Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome","volume":"17","author":"Dietz","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.gene.2013.10.033_bb0045","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/sj.ejhg.5201502","article-title":"Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects","volume":"14","author":"Disabella","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0050","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study","volume":"81","author":"Faivre","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0055","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1161\/01.CIR.62.5.1054","article-title":"Echocardiographic measurements in normal subjects from infancy to old age","volume":"62","author":"Henry","year":"1980","journal-title":"Circulation"},{"issue":"2750","key":"10.1016\/j.gene.2013.10.033_bb0060","first-page":"2757","article-title":"Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein","volume":"278","author":"Isogai","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.10.033_bb0065","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1111\/j.1399-0004.2005.00535.x","article-title":"Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys\u2013Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome","volume":"68","author":"Ki","year":"2005","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0070","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1093\/ejechocard\/jen003","article-title":"Early impairment of left ventricular long-axis systolic dysfunction demonstrated by reduced atrioventricular plane displacement in patients with Marfan syndrome","volume":"9","author":"Kiotsekoglou","year":"2008","journal-title":"Eur. J. Echocardiogr."},{"key":"10.1016\/j.gene.2013.10.033_bb0075","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1471-2350-2-11","article-title":"Multi-exon deletions of the FBN1 gene in Marfan syndrome","volume":"2","author":"Liu","year":"2001","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0080","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0085","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/humu.10054","article-title":"Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene","volume":"19","author":"Matyas","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.10.033_bb0090","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/j.amjcard.2004.11.042","article-title":"Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitation","volume":"95","author":"Meijboom","year":"2005","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0095","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1053\/euhj.1998.1145","article-title":"Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy","volume":"20","author":"Mestroni","year":"1999","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.gene.2013.10.033_bb0100","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/ng1392","article-title":"Heterozygous TGFBR2 mutations in Marfan syndrome","volume":"36","author":"Mizuguchi","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0105","doi-asserted-by":"crossref","first-page":"7409","DOI":"10.1074\/jbc.R400029200","article-title":"Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability","volume":"280","author":"Rifkin","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.10.033_bb0110","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of Marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0115","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/0002-9149(89)90430-X","article-title":"Two-dimensional echocardiographic aortic root dimensions in normal children and adults","volume":"64","author":"Roman","year":"1989","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0120","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/clc.3","article-title":"Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome","volume":"30","author":"Rybczynski","year":"2007","journal-title":"Clin. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0125","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1002\/ajmg.a.31353","article-title":"Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes","volume":"140","author":"Sakai","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.033_bb0130","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1086\/341581","article-title":"Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes","volume":"71","author":"Schrijver","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.033_bb0135","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/humu.20354","article-title":"TGFBR1 and TGFBR2 mutations in patientswith features of Marfan syndrome and Loeys\u2013Dietz syndrome","volume":"27","author":"Singh","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.10.033_bb0140","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1161\/01.CIR.91.3.734","article-title":"Determinants of echocardiographic aortic root size; The Framingham Heart Study","volume":"91","author":"Vasan","year":"1995","journal-title":"Circulation"},{"key":"10.1016\/j.gene.2013.10.033_bb0145","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/S0735-1097(02)02699-2","article-title":"Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death?","volume":"41","author":"Yetman","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.gene.2013.10.033_bb0150","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/S0894-7317(03)00335-3","article-title":"American Society of Echocardiography. Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and Doppler echocardiography","volume":"16","author":"Zoghbi","year":"2003","journal-title":"J. Am. Soc. Echocardiogr."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913014285?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913014285?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,31]],"date-time":"2019-07-31T03:50:44Z","timestamp":1564545044000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913014285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["S0378111913014285"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.10.033","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.10.033","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}