{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:47:19Z","timestamp":1792806439533,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,11,17]],"date-time":"2006-11-17T00:00:00Z","timestamp":1163721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Headache"],"published-print":{"date-parts":[[2007,1]]},"abstract":"\n Background.\u2014Mutations in different domains of the Fibrillin\u20101 (\n FBN1<\/jats:italic>\n ) gene may be responsible for the variable phenotypic expression of Marfan's syndrome that may present with CSF hypovolemia.\n <\/jats:p>\n \n Objectives.\u2014To evaluate the association between mutations in the Fibrillin\u20101 (\n FBN1<\/jats:italic>\n ) gene and spontaneous CSF hypovolemia (SCH) in a Korean population.\n <\/jats:p>\n Methods.\u2014We studied 10 consecutive patients with SCH without clinical characteristics of Marfan's syndrome. The genetic analysis was performed.<\/jats:p>\n \n Results.\u2014Direct sequencing analysis of the\n FBN1<\/jats:italic>\n gene identified 15 genetic variations, of which 5 coding (3 synonymous, 2 nonsynonymous) and 8 intronic variations were listed in the single nucleotide polymorphism database (dbSNP). The other 2 variations, c.2728 \u2013 12T > C in intron 21 and c.4582 \u2013 19A > G in intron 35, were also observed in normal controls with estimated frequencies of 0.06 and 0.15, respectively.\n <\/jats:p>\n \n Conclusions.\u2014We could not identify any\n FBN1<\/jats:italic>\n variations possibly associated with SCH in our study population.\n <\/jats:p>","DOI":"10.1111\/j.1526-4610.2006.00635.x","type":"journal-article","created":{"date-parts":[[2006,11,17]],"date-time":"2006-11-17T16:11:49Z","timestamp":1163779909000},"page":"111-115","source":"Crossref","is-referenced-by-count":8,"title":["Fibrillin\u20101 Gene Analysis of Korean Patients With Spontaneous CSF Hypovolemia"],"prefix":"10.1111","volume":"47","author":[{"given":"Sun J.","family":"Chung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang\u2010Seok","family":"Ki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myoung C.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae\u2010Hong","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,11,17]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.3.481"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.4065\/72.5.400"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.4065\/74.11.1113"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.9.1321"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000049933.51044.81"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.5.814"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-2982.2003.00587.x"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2005.00541.x"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1799"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200306000-00011"},{"key":"e_1_2_8_13_2","first-page":"3","volume-title":"Carpenter's Human Neuroanatomy","author":"Parent A","year":"1996"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1973.38.5.0650"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1988.69.2.0221"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)12448-0"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.5.516"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2002.96.3.0483"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1227\/01.NEU.0000097200.18478.7B"},{"key":"e_1_2_8_20_2","first-page":"726","article-title":"Dural ectasia is a common feature of the Marfan syndrome","volume":"43","author":"Pyeritz RE","year":"1988","journal-title":"Am J Hum Genet"}],"container-title":["Headache: The Journal of Head and Face Pain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1526-4610.2006.00635.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/headachejournal.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1526-4610.2006.00635.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T11:45:40Z","timestamp":1762083940000},"score":1,"resource":{"primary":{"URL":"https:\/\/headachejournal.onlinelibrary.wiley.com\/doi\/10.1111\/j.1526-4610.2006.00635.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,17]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["10.1111\/j.1526-4610.2006.00635.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1526-4610.2006.00635.x","archive":["Portico"],"relation":{},"ISSN":["0017-8748","1526-4610"],"issn-type":[{"value":"0017-8748","type":"print"},{"value":"1526-4610","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,17]]}}}