{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:26:04Z","timestamp":1777523164600,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:00:00Z","timestamp":1141171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and\/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>Patients were ascertained in the Centro de Estudos do Genoma Humano in S\u00e3o Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and\/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions: FGFR1<\/jats:title>\n                    <jats:p>(exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/04-206.1","type":"journal-article","created":{"date-parts":[[2006,3,8]],"date-time":"2006-03-08T13:45:15Z","timestamp":1141825515000},"page":"148-151","source":"Crossref","is-referenced-by-count":13,"title":["Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients"],"prefix":"10.1177","volume":"43","author":[{"given":"Fernanda Sarquis","family":"Jehee","sequence":"first","affiliation":[{"name":"Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis G.","family":"Alonso","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica, Departamentos de Morfologia e Pediatria, UNIFESP-EPM, S\u00e3o Paulo, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise P.","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Depto de Gen\u00e9tica M\u00e9dica, Faculdade de Ci\u00eancias M\u00e9dicas, UNICAMP, Campinas, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong","family":"Kim","sequence":"additional","affiliation":[{"name":"Instituto da Crian\u00e7a do Hospital das Cl\u00ednicas, Faculdade de Medicina, USP, S\u00e3o Paulo, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Wall","sequence":"additional","affiliation":[{"name":"Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John B.","family":"Mulliken","sequence":"additional","affiliation":[{"name":"Children's Hospital, Division of Plastic Surgery, Harvard Medical School, Boston, Massachusetts."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Sun","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simeon A.","family":"Boyadjiev","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew O. M.","family":"Wilkie","sequence":"additional","affiliation":[{"name":"Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rita","family":"Passos-Bueno","sequence":"additional","affiliation":[{"name":"Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2006,3,1]]},"reference":[{"key":"bibr1-04-206.1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8812"},{"key":"bibr2-04-206.1","doi-asserted-by":"publisher","DOI":"10.1086\/302041"},{"key":"bibr3-04-206.1","unstructured":"CartegniL., WangJ., ZhuZ., ZhangM., KrainerA. ESEfinder. Available at http:\/\/rulai.cshl.edu\/tools\/ESE\/ESEbkgr.html. 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Available at http:\/\/www.ncbi.nlm.nih.gov\/omim\/. Accessed April 21, 2005."},{"key":"bibr16-04-206.1","first-page":"676","volume":"56","author":"Penny L.","year":"1995","journal-title":"Am J Hum Genet."},{"key":"bibr17-04-206.1","first-page":"365","volume-title":"Bioinformatics Methods and Protocols: Methods in Molecular Biology.","author":"Rosen S.","year":"2000"},{"key":"bibr18-04-206.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1526-968X(200004)26:4<253::AID-GENE60>3.0.CO;2-D"},{"key":"bibr19-04-206.1","doi-asserted-by":"publisher","DOI":"10.1007\/s003810050420"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/04-206.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/04-206.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:19:56Z","timestamp":1777393196000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/04-206.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1597\/04-206.1"],"URL":"https:\/\/doi.org\/10.1597\/04-206.1","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3]]}}}