{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:20:20Z","timestamp":1791973220329,"version":"4.3.4"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5356,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,4,1]]},"DOI":"10.1002\/ajmg.1174","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:44:57Z","timestamp":1030315497000},"page":"294-302","source":"Crossref","is-referenced-by-count":19,"title":["Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis"],"prefix":"10.1002","volume":"99","author":[{"given":"Iva","family":"Toudjarska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W.","family":"Kilpatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lembessis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Carra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary L.","family":"Harton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Sisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harvey J.","family":"Stern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zully","family":"Gelman-Kohan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mordechai","family":"Shohat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Tsipouras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001]]},"reference":[{"key":"BIB1","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1034\/j.1399-0004.1999.550207.x","volume":"55","author":"Booms","year":"1999","journal-title":"Clin Genet"},{"key":"BIB2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","volume":"62","author":"De Paepe","year":"1996","journal-title":"Am J Med Genet"},{"key":"BIB3","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"BIB4","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1006\/geno.1993.1349","volume":"17","author":"Dietz","year":"1993a","journal-title":"Genomics"},{"key":"BIB5","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1093\/hmg\/4.suppl_1.1799","volume":"4","author":"Dietz","year":"1995","journal-title":"Hum Mol Genet"},{"key":"BIB6","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1126\/science.8430317","volume":"259","author":"Dietz","year":"1993b","journal-title":"Science"},{"key":"BIB7","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1212\/WNL.53.5.1087","volume":"53","author":"Fallon","year":"1999","journal-title":"Neurology"},{"key":"BIB8","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S","volume":"76","author":"Greally","year":"1998","journal-title":"Am J Med Genet"},{"key":"BIB9","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1093\/molehr\/2.9.713","volume":"2","author":"Harton","year":"1996","journal-title":"Mol Hum Reprod"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C","volume":"10","author":"Hayward","year":"1997","journal-title":"Hum Mutat"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1006\/mcpr.1994.1045","volume":"8","author":"Hayward","year":"1994","journal-title":"Mol Cell Probes"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L","volume":"10","author":"Hayward","year":"1997","journal-title":"Hum Mutat"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0194-64","volume":"6","author":"Kainulainen","year":"1994","journal-title":"Nat Genet"},{"key":"BIB14","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1159\/000264355","volume":"11","author":"Kilpatrick","year":"1996","journal-title":"Fetal Diagn Ther"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/352330a0","volume":"352","author":"Lee","year":"1991","journal-title":"Nature"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng0897-328","volume":"16","author":"Liu","year":"1997","journal-title":"Nat Genet"},{"key":"BIB17","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1006\/geno.1994.1110","volume":"19","author":"Lonnqvist","year":"1994","journal-title":"Genomics"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"2708","DOI":"10.1161\/01.CIR.94.11.2708","volume":"94","author":"Milewicz","year":"1996","journal-title":"Circulation"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1086\/302144","volume":"63","author":"Montgomery","year":"1998","journal-title":"Am J Hum Genet"},{"key":"BIB20","first-page":"804","volume":"286","author":"Murdoch","year":"1972","journal-title":"Life Expectancy and cause of death in the Martan Syndrome. N Engl J Med"},{"key":"BIB21","first-page":"8","volume":"57","author":"Nijbroek","year":"1995","journal-title":"Am J Hum Genet"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U","volume":"62","author":"Putnam","year":"1996","journal-title":"Am J Med Genet"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1056\/NEJM197904053001406","volume":"300","author":"Pyeritz","year":"1979","journal-title":"N Engl J Med"},{"key":"BIB24","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0959-437X(96)80007-4","volume":"6","author":"Ramirez","year":"1996","journal-title":"Curr Opin Genet Dev"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1159\/000472343","volume":"2","author":"Rantamaki","year":"1994","journal-title":"Eur J Hum Genet"},{"key":"BIB26","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.37.1.9","volume":"37","author":"Robinson","year":"2000","journal-title":"J Med Genet"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0002-9149(00)80066-1","volume":"75","author":"Silverman","year":"1995","journal-title":"Am J Cardiol"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","volume":"15","author":"Shapiro","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0015-0282(16)57737-1","volume":"64","author":"Sherins","year":"1995","journal-title":"Fertil Steril"},{"key":"BIB30","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/ng0296-209","volume":"12","author":"Sood","year":"1996","journal-title":"Nat Genet"},{"key":"BIB31","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1056\/NEJM199204023261401","volume":"326","author":"Tsipouras","year":"1992","journal-title":"N Engl J Med"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1174","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.1174","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T01:39:43Z","timestamp":1625103583000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1174"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,4,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.1174","relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}