{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:36Z","timestamp":1791296856630,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1016\/j.ymgme.2014.03.011","type":"journal-article","created":{"date-parts":[[2014,4,2]],"date-time":"2014-04-02T10:00:35Z","timestamp":1396432835000},"page":"171-176","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":56,"title":["The spectrum of FBN1, TGF\u03b2R1, TGF\u03b2R2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys\u2013Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)"],"prefix":"10.1016","volume":"112","author":[{"given":"Jordan P.","family":"Lerner-Ellis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saud H.","family":"Aldubayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy Lovelette","family":"Hernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa Allard","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron J.","family":"Stuenkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria A.","family":"Joshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2014.03.011_bb0005","series-title":"Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects","first-page":"585","article-title":"Marfan Syndrome and other microfibrillar disorders","author":"Pyeritz","year":"2003"},{"key":"10.1016\/j.ymgme.2014.03.011_bb0010","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"4079","article-title":"Marfan syndrome and related disorders","author":"Ramirez","year":"1995"},{"key":"10.1016\/j.ymgme.2014.03.011_bb0015","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan's syndrome","author":"Judge","year":"2005","journal-title":"Lancet"},{"issue":"9142","key":"10.1016\/j.ymgme.2014.03.011_bb0020","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1016\/S0140-6736(05)79822-6","article-title":"Aortic complications of Marfan's syndrome","volume":"352","author":"Adams","year":"1998","journal-title":"Lancet"},{"issue":"6333","key":"10.1016\/j.ymgme.2014.03.011_bb0025","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/352330a0","article-title":"Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes","volume":"352","author":"Lee","year":"1991","journal-title":"Nature"},{"issue":"6333","key":"10.1016\/j.ymgme.2014.03.011_bb0030","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ymgme.2014.03.011_bb0035","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","author":"Collod-Beroud","year":"2003","journal-title":"Hum. Mutat."},{"issue":"7","key":"10.1016\/j.ymgme.2014.03.011_bb0040","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."},{"issue":"3","key":"10.1016\/j.ymgme.2014.03.011_bb0045","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.ymgme.2014.03.011_bb0050","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in the TGF-beta receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2014.03.011_bb0055","author":"Loeys"},{"issue":"2","key":"10.1016\/j.ymgme.2014.03.011_bb0060","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/ng.744","article-title":"Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis","volume":"43","author":"van de Laar","year":"2011","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.ymgme.2014.03.011_bb0065","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/ng.2348","article-title":"TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome","volume":"44","author":"Boileau","year":"2012","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2014.03.011_bb0080","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/0735-1097(89)90221-0","article-title":"Familial aortic dissecting aneurysm","volume":"13","author":"Nicod","year":"1989","journal-title":"J. Am. Coll. Cardiol."},{"issue":"4","key":"10.1016\/j.ymgme.2014.03.011_bb0085","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/S0002-9149(98)00364-6","article-title":"Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms\/dissections","volume":"82","author":"Milewicz","year":"1998","journal-title":"Am. J. Cardiol."},{"issue":"4","key":"10.1016\/j.ymgme.2014.03.011_bb0090","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.athoracsur.2006.04.098","article-title":"Familial thoracic aortic aneurysms and dissections\u2014incidence, modes of inheritance, and phenotypic patterns","volume":"82","author":"Albornoz","year":"2006","journal-title":"Ann. Thorac. Surg."},{"issue":"11","key":"10.1016\/j.ymgme.2014.03.011_bb0095","doi-asserted-by":"crossref","first-page":"2708","DOI":"10.1161\/01.CIR.94.11.2708","article-title":"Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms","volume":"94","author":"Milewicz","year":"1996","journal-title":"Circulation"},{"issue":"9","key":"10.1016\/j.ymgme.2014.03.011_bb0100","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1136\/jmg.2008.062844","article-title":"Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations","volume":"46","author":"Tran-Fadulu","year":"2009","journal-title":"J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2014.03.011_bb0105","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/ng1721","article-title":"Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm\/aortic dissection and patent ductus arteriosus","volume":"38","author":"Zhu","year":"2006","journal-title":"Nat. Genet."},{"issue":"12","key":"10.1016\/j.ymgme.2014.03.011_bb0110","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/ng.2007.6","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections","volume":"39","author":"Guo","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2014.03.011_bb0115","author":"ACTA2 mutation database. The Human Gene Mutation Database"},{"issue":"20","key":"10.1016\/j.ymgme.2014.03.011_bb0120","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1001\/archinte.161.20.2447","article-title":"Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome","volume":"161","author":"Loeys","year":"2001","journal-title":"Arch. Intern. Med."},{"key":"10.1016\/j.ymgme.2014.03.011_bb0125","series-title":"Marfan syndrome and related disorders","first-page":"5287","year":"2001"},{"issue":"4","key":"10.1016\/j.ymgme.2014.03.011_bb0130","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"De Paepe","year":"1996","journal-title":"Am. J. Med. Genet."},{"issue":"13","key":"10.1016\/j.ymgme.2014.03.011_bb0135","doi-asserted-by":"crossref","first-page":"5917","DOI":"10.1073\/pnas.89.13.5917","article-title":"Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides","volume":"89","author":"Kainulainen","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.ymgme.2014.03.011_bb0140","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P","article-title":"Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1","volume":"14","author":"Yuan","year":"1999","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.ymgme.2014.03.011_bb0145","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1136\/jmg.39.8.589","article-title":"Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice","volume":"39","author":"Halliday","year":"2002","journal-title":"J. Med. Genet."},{"issue":"9","key":"10.1016\/j.ymgme.2014.03.011_bb0150","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/ejhg.2009.36","article-title":"Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene","volume":"17","author":"Stheneur","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2014.03.011_bb0155","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1111\/j.1399-0004.2011.01646.x","article-title":"Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome","volume":"80","author":"Radonic","year":"2011","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2014.03.011_bb0160","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1399-0004.2011.01771.x","article-title":"Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome","volume":"82","author":"Sheikhzadeh","year":"2012","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ymgme.2014.03.011_bb0165","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1111\/j.1399-0004.2011.01703.x","article-title":"The new Ghent criteria for Marfan syndrome: what do they change?","volume":"81","author":"Faivre","year":"2012","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ymgme.2014.03.011_bb0170","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1002\/ajmg.a.34392","article-title":"A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population","volume":"158A","author":"Yang","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ymgme.2014.03.011_bb0175","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.ymgme.2014.03.011_bb0180","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."},{"issue":"8","key":"10.1016\/j.ymgme.2014.03.011_bb0185","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng0804-790","article-title":"TGF beta signaling in health and disease","volume":"36","author":"Akhurst","year":"2004","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.ymgme.2014.03.011_bb0190","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1097\/HCO.0b013e32833f0220","article-title":"The Loeys\u2013Dietz syndrome: an update for the clinician","volume":"25","author":"Van Hemelrijk","year":"2010","journal-title":"Curr. Opin. Cardiol."},{"issue":"6","key":"10.1016\/j.ymgme.2014.03.011_bb0195","first-page":"1287","article-title":"A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection","volume":"56","author":"Francke","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2014.03.011_bb0200","author":"Milewicz"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719214001176?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719214001176?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T05:55:41Z","timestamp":1538718941000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719214001176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S1096719214001176"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.03.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2014,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The spectrum of FBN1, TGF\u03b2R1, TGF\u03b2R2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys\u2013Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2014.03.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}