{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:25:39Z","timestamp":1793672739231,"version":"4.5.1"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2004,9,1]],"date-time":"2004-09-01T00:00:00Z","timestamp":1093996800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2004,11]]},"DOI":"10.1038\/sj.ejhg.5201260","type":"journal-article","created":{"date-parts":[[2004,9,1]],"date-time":"2004-09-01T09:52:38Z","timestamp":1094032358000},"page":"879-890","source":"Crossref","is-referenced-by-count":150,"title":["Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation"],"prefix":"10.1038","volume":"12","author":[{"given":"\u00d6zge","family":"Altug Teber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"B\u00f6hringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Albert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mine","family":"Arslan-Kirchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Haan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Hagedorn-Greiwe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christof","family":"Hammans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfram","family":"Henn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg Klaus","family":"Hinkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"K\u00f6nig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdmute","family":"Kunstmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luitgard M","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva-Christina","family":"Prott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Dieter","family":"Rott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heide","family":"Seidel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Sprengel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Zoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar R","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,9,1]]},"reference":[{"key":"BF5201260_CR1","first-page":"90","volume":"20","author":"E Treacher Collins","year":"1900","unstructured":"Treacher Collins E : Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthalmol Sec UK 1900; 20: 90.","journal-title":"Trans Ophthalmol Sec UK"},{"key":"BF5201260_CR2","first-page":"420","volume":"7","author":"A Thomson","year":"1846","unstructured":"Thomson A : Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Month J Med Sci 1846; 7: 420.","journal-title":"Month J Med Sci"},{"key":"BF5201260_CR3","first-page":"255","volume":"12","author":"GA Berry","year":"1889","unstructured":"Berry GA : Note on a congenital defect (?coloboma) of the lower lid. R Lond Ophthalmol Hosp Rep 1889; 12: 255\u2013257.","journal-title":"R Lond Ophthalmol Hosp Rep"},{"key":"BF5201260_CR4","first-page":"143","volume":"27","author":"A Franceschetti","year":"1949","unstructured":"Franceschetti A, Klein D : The mandibulo-facial dysostosis. A new hereditary syndrome. Acta Ophthalmol (Copenh) 1949; 27: 143\u2013229.","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"BF5201260_CR5","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/S0022-3476(64)80522-9","volume":"65","author":"S Rovin","year":"1964","unstructured":"Rovin S, Dachi SF, Borenstein DB, Cotter WE : Mandibulofacial dysostosis, a familial study of five generations. J Pediatr 1964; 65: 215\u2013221.","journal-title":"J Pediatr"},{"key":"BF5201260_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1001\/archpedi.1967.02090190051001","volume":"113","author":"LE Fazen","year":"1967","unstructured":"Fazen LE, Elmore J, Nadler HL : Mandibulo-facial dysostosis (Treacher-Collins syndrome). Am J Dis Child 1967; 113: 405\u2013410.","journal-title":"Am J Dis Child"},{"key":"BF5201260_CR7","volume-title":"Essential medical genetics","author":"JM Connor","year":"1988","unstructured":"Connor JM, Ferguson-Smith MA : Essential medical genetics. Oxford: Blackwell Scientific, 1988."},{"key":"BF5201260_CR8","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1001\/archotol.1995.01890050009002","volume":"121","author":"HAM Marres","year":"1995","unstructured":"Marres HAM, Cremers WRJ, Dixon MJ, Huygen PLM, Joosten FBM : The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 1995; 121: 509\u2013514.","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"BF5201260_CR9","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1136\/jmg.32.10.806","volume":"32","author":"M Dixon","year":"1995","unstructured":"Dixon M : Treacher Collins syndrome. J Med Genet 1995; 32: 806\u2013808.","journal-title":"J Med Genet"},{"key":"BF5201260_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0007-117X(75)90019-0","volume":"13","author":"D Poswillo","year":"1975","unstructured":"Poswillo D : The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg 1975; 13: 1\u201326.","journal-title":"Br J Oral Surg"},{"key":"BF5201260_CR11","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1093\/hmg\/5.10.1533","volume":"5","author":"AJ Gladwin","year":"1996","unstructured":"Gladwin AJ, Dixon J, Loftus SK et al: Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 1996; 5: 1533\u20131538.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"BF5201260_CR12","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng0296-130","volume":"12","author":"The Treacher Collins Syndrome Colla","year":"1996","unstructured":"Treacher Collins collaborative group: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996; 12: 130\u2013136.","journal-title":"Nature Genetics"},{"key":"BF5201260_CR13","first-page":"515","volume":"60","author":"SJ Edwards","year":"1997","unstructured":"Edwards SJ, Gladwin AJ, Dixon MJ : The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon. Am J Hum Genet 1997; 60: 515\u2013524.","journal-title":"Am J Hum Genet"},{"key":"BF5201260_CR14","doi-asserted-by":"publisher","first-page":"3110","DOI":"10.1073\/pnas.94.7.3110","volume":"94","author":"CA Wise","year":"1997","unstructured":"Wise CA, Chiang LC, Paznekas WA et al: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci 1997; 94: 3110\u20133115.","journal-title":"Proc Natl Acad Sci"},{"key":"BF5201260_CR15","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H","volume":"16","author":"A Splendore","year":"2000","unstructured":"Splendore A, Silva EO, Alonso LG et al: High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 non-pathogenic changes. Hum Mut 2000; 16: 315\u2013322.","journal-title":"Hum Mut"},{"key":"BF5201260_CR16","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1136\/jmg.39.7.493","volume":"39","author":"A Splendore","year":"2002","unstructured":"Splendore A, Jabs EW, Passos-Bueno MR : Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a new missense mutation that suggests an important functional domain in the protein treacle. J Med Genet 2002; 39: 493\u2013495.","journal-title":"J Med Genet"},{"key":"BF5201260_CR17","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1093\/ortho\/29.4.293","volume":"29","author":"PE Ellis","year":"2002","unstructured":"Ellis PE, Dawson M, Dixon MJ : Mutation testing in Treacher Collins syndrome. J Orthodont 2002; 29: 293\u2013297.","journal-title":"J Orthodont"},{"key":"BF5201260_CR18","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1002\/ajmg.a.20312","volume":"123A","author":"B Marszalek","year":"2003","unstructured":"Marszalek B, Wisniewski SA, Wojcicki P, Kobus K, Trzeciak WH : Novel mutation in the 5\u2032 splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. Am J Med Genet 2003; 123A: 169\u2013171.","journal-title":"Am J Med Genet"},{"key":"BF5201260_CR19","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.gene.2003.11.027","volume":"328","author":"RB So","year":"2004","unstructured":"So RB, Gonzalez B, Henning D, Dixon J, Dixon MJ, Valdez BC : Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 2004; 328: 49\u201357.","journal-title":"Gene"},{"key":"BF5201260_CR20","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1093\/hmg\/9.10.1473","volume":"9","author":"J Dixon","year":"2000","unstructured":"Dixon J, Brakebusch C, F\u00e4ssler R, Dixon MJ : Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 2000; 9: 1473\u20131480.","journal-title":"Hum Mol Genet"},{"key":"BF5201260_CR21","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1002\/ajmg.1320260215","volume":"26","author":"BR Rollnick","year":"1987","unstructured":"Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO : Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26: 361\u2013375.","journal-title":"Am J Med Genet"},{"key":"BF5201260_CR22","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1016\/S0022-3476(79)80513-2","volume":"95","author":"BD Hall","year":"1979","unstructured":"Hall BD : Choanal atresia and associated multiple anomalies. J Pediatr 1979; 95: 395\u2013398.","journal-title":"J Pediatr"},{"key":"BF5201260_CR23","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1136\/jmg.6.1.14","volume":"6","author":"MC Mengel","year":"1969","unstructured":"Mengel MC, K\u00f6nigsmark BW, Berlin CI, McKusick VA : Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. J Med Genet 1969; 6: 14\u201321.","journal-title":"J Med Genet"},{"key":"BF5201260_CR24","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<55::AID-AJMG11>3.0.CO;2-Q","volume":"73","author":"W Courtens","year":"1997","unstructured":"Courtens W, Levi S, Verbelen F, Verloes A, Vamos E : Feingold syndrome: report of a new family and review. Am J Med Genet 1997; 73: 55\u201360.","journal-title":"Am J Med Genet"},{"key":"BF5201260_CR25","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<358::AID-AJMG3>3.0.CO;2-7","volume":"90","author":"G Zampino","year":"2000","unstructured":"Zampino G, Balducci F, Mariotti P, Dickmann A, Mastroiacovo P : Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome. Am J Med Genet 2000; 90: 358\u2013360.","journal-title":"Am J Med Genet"},{"key":"BF5201260_CR26","first-page":"171","volume":"12","author":"D Wieczorek","year":"2003","unstructured":"Wieczorek D, Altug Teber \u00d6, Lohmann D, Gillessen-Kaesbach G : Two brothers with Burn\u2013McKeown syndrome. Clin Dysmorphol 2003; 12: 171\u2013174.","journal-title":"Clin Dysmorphol"},{"key":"BF5201260_CR27","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1097\/00019605-199207000-00003","volume":"1","author":"J Burn","year":"1992","unstructured":"Burn J, McKeown C, Wagget J, Bray R, Goodship J : New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol 1992; 1: 137\u2013144.","journal-title":"Clin Dysmorphol"},{"key":"BF5201260_CR28","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1007\/s00335-001-3011-0","volume":"12","author":"KE Haworth","year":"2001","unstructured":"Haworth KE, Islam I, Breen M et al: Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. Mamm Genome 2001; 12: 622\u2013629.","journal-title":"Mamm Genome"},{"key":"BF5201260_CR29","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1093\/hmg\/6.5.727","volume":"6","author":"J Dixon","year":"1997","unstructured":"Dixon J, Hovanes K, Shiang R, Dixon MJ : Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum Mol Genet 1997; 6: 727\u2013737.","journal-title":"Hum Mol Genet"},{"key":"BF5201260_CR30","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1002\/humu.1380010512","volume":"1","author":"L Saba","year":"1992","unstructured":"Saba L, Meloni A, Sardu R, Travi M, Primignani P, Rosatelli MC : A novel beta-thalassemia mutation (G \u2192 A) at the initiation codon of the beta-globin gene. Hum Mutat 1992; 1: 420\u2013422.","journal-title":"Hum Mutat"},{"key":"BF5201260_CR31","doi-asserted-by":"publisher","first-page":"1431","DOI":"10.1093\/hmg\/3.8.1431","volume":"3","author":"JP Cheadle","year":"1994","unstructured":"Cheadle JP, Belloni F, Ferrari M, Millar-Jones L, Meredith AL : A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Hum Mol Genet 1994; 3: 1431\u20131432.","journal-title":"Hum Mol Genet"},{"key":"BF5201260_CR32","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1002\/ajmg.10567","volume":"111","author":"A Splendore","year":"2002","unstructured":"Splendore A, Passos-Bueno MR, Jabs EW, van Maldergem L, Wulfsberg EA : TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet 2002; 111: 324\u2013327.","journal-title":"Am J Med Genet"},{"key":"BF5201260_CR33","first-page":"355","volume":"43","author":"JG Hall","year":"1998","unstructured":"Hall JG : Review and hypothesis: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 1998; 43: 355\u2013363.","journal-title":"Am J Hum Genet"},{"key":"BF5201260_CR34","doi-asserted-by":"publisher","first-page":"34309","DOI":"10.1074\/jbc.M304304200","volume":"278","author":"T Hayano","year":"2003","unstructured":"Hayano T, Yanagida M, Yamauchi Y, Shinkawa T, Isobe T, Takahashi N : Proteonomic analysis of human Nop56-associated pre-ribosomal ribonucleoprotein complexes : possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. J Biol Chem 2003; 278: 34309\u201334319.","journal-title":"J Biol Chem"},{"key":"BF5201260_CR35","first-page":"60","volume":"I","author":"A Franceschetti","year":"1944","unstructured":"Franceschetti A, Zwahlen P : Un syndrome nouveau: la dysostose mandibulofaciale. Bull Schweiz Akad Med Wiss 1944; I: 60\u201366.","journal-title":"Bull Schweiz Akad Med Wiss"},{"key":"BF5201260_CR36","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1007\/s100380200092","volume":"47","author":"H Haga","year":"2002","unstructured":"Haga H, Yamada R, Ohnishi Y, Nakamura Y, Tanaka T : Gene-based SNP discovery as part of the Japanese millenium genome project: identification of 190562 genetic variations in the human genome. J Hum Genet 2002; 47: 605\u2013610.","journal-title":"J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201260.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201260","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201260.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:32:10Z","timestamp":1684373530000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,1]]},"references-count":36,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["BF5201260"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201260","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,1]]}}}