{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:06:11Z","timestamp":1790935571524,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T00:00:00Z","timestamp":1184284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of a mosaic duplication: 46,XY,dup(11)(q11\u2192q13.3)(29)\/46,XY(6). The breakpoints were further delimited by comparative genomic hybridization microarray. We also performed fluorescent in situ hybridization analysis to determine the extension of the duplication in a patient described earlier with a duplication 11q13.5\u2013q21. An overlapping region of less than 1.2 Mb was identified and included the duplication of genes <jats:italic>FGF3<\/jats:italic> and <jats:italic>FGF4<\/jats:italic> in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31863","type":"journal-article","created":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T22:20:27Z","timestamp":1184365227000},"page":"1912-1918","source":"Crossref","is-referenced-by-count":25,"title":["An 11q11\u2013q13.3 duplication, including <i>FGF3<\/i> and <i>FGF4<\/i> genes, in a patient with syndromic multiple craniosynostoses"],"prefix":"10.1002","volume":"143A","author":[{"given":"Fernanda S.","family":"Jehee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9bora R.","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna K.","family":"Yelavarthi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana C.V.","family":"Krepischi\u2010Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Vianna\u2010Morgante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris R.","family":"Vermeesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.9.1475"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302410"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199806)212:2<242::AID-AJA8>3.0.CO;2-H"},{"key":"e_1_2_7_5_1","first-page":"380","volume-title":"Inborn errors of development Ch.33","author":"Cohen MM","year":"2004"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10155"},{"key":"e_1_2_7_7_1","first-page":"239","article-title":"Partial chromosomal 11q trisomy as an unbalanced result of t(11;13)(q23. 1;q34)mat in two sisters","volume":"103","author":"Hou JW","year":"2004","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh235"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.050303"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb03288.x"},{"key":"e_1_2_7_11_1","first-page":"127","article-title":"Simultaneous induction of apoptosis, collagen type I expression and mineralization in the developing coronal suture following FGF4 and FGF2 application","volume":"20","author":"Mathijssen IM","year":"2000","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.44.26037"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.1.18"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03909.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4A6436.2005"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/cyto.1999.0485"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20610"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31519"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20134"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31863","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31863","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:43:04Z","timestamp":1697593384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31863"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,13]]},"references-count":18,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2007,8,15]]}},"alternative-id":["10.1002\/ajmg.a.31863"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31863","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,13]]}}}