{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:18:39Z","timestamp":1790065119809,"version":"4.0.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T00:00:00Z","timestamp":1061856000000},"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":[[2003,9]]},"DOI":"10.1038\/sj.ejhg.5201029","type":"journal-article","created":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T10:26:13Z","timestamp":1061893573000},"page":"718-722","source":"Crossref","is-referenced-by-count":29,"title":["Parental origin of mutations in sporadic cases of Treacher Collins syndrome"],"prefix":"10.1038","volume":"11","author":[{"given":"Alessandra","family":"Splendore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00eamis Maria","family":"F\u00e9lix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos-Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,8,26]]},"reference":[{"key":"BF5201029_CR1","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":"BF5201029_CR2","first-page":"143","volume":"27","author":"A Franceschetti","year":"1949","unstructured":"Franceschetti A, Klein D : Mandibulo-facial dysostosis, new hereditary syndrome. Acta Ophthal 1949; 27: 143\u2013224.","journal-title":"Acta Ophthal"},{"issue":"2","key":"BF5201029_CR3","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng0296-130","volume":"12","author":"The Treacher Collins Syndrome Colla","year":"1996","unstructured":"The Treacher Collins Syndrome 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":"BF5201029_CR4","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 an 16 novel pathogenic changes. Hum Mutat 2000; 16: 315\u2013322.","journal-title":"Hum Mutat"},{"key":"BF5201029_CR5","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 novel 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":"BF5201029_CR6","volume-title":"Smith's recognizable patterns of human malformation","author":"KL Jones","year":"1997","unstructured":"Jones KL : Smith's recognizable patterns of human malformation, 5th edn., Philadelphia: Saunders, 1997."},{"key":"BF5201029_CR7","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/S0022-3476(75)80709-8","volume":"86","author":"KL Jones","year":"1975","unstructured":"Jones KL, Smith DW, Harvey MA, Hall BD, Quan L : Older paternal age and fresh gene mutation, date on additional disorders. J Pediatr 1975; 86: 84\u201388.","journal-title":"J Pediatr"},{"key":"BF5201029_CR8","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF : A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.","journal-title":"Nucleic Acids Res"},{"key":"BF5201029_CR9","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"},{"key":"BF5201029_CR10","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":"BF5201029_CR11","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 USA 1997; 94: 3110\u20133115.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201029_CR12","unstructured":"WWW Primer Picking (Primer3): The Whitehead Institute for Biomedical Research. Cambridge, MA. \n                    http:\/\/www-genome.wi.mit.edu\/cgi-bin\/primer\/primer3.cgi\n                    \n                  ."},{"key":"BF5201029_CR13","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","volume":"17","author":"CR Newton","year":"1989","unstructured":"Newton CR, Graham A, Heptinstall LE et al: Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989; 17: 2503\u20132516.","journal-title":"Nucleic Acids Res"},{"key":"BF5201029_CR14","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1038\/ng0596-48","volume":"13","author":"DM Moloney","year":"1996","unstructured":"Moloney DM, Slaney SF, Oldridge M et al: Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13: 48\u201353.","journal-title":"Nat Genet"},{"key":"BF5201029_CR15","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1086\/302831","volume":"66","author":"RL Glaser","year":"2000","unstructured":"Glaser RL, Jiang W, Boyadjiev SA et al: Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000; 66: 768\u2013777.","journal-title":"Am J Hum Genet"},{"key":"BF5201029_CR16","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1086\/302000","volume":"63","author":"DJ Wilkin","year":"1998","unstructured":"Wilkin DJ, Szabo JK, Cameron R et al: Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998; 63: 711\u2013716.","journal-title":"Am J Hum Genet"},{"key":"BF5201029_CR17","first-page":"233","volume":"60","author":"I Schuffenecker","year":"1997","unstructured":"Schuffenecker I, Ginet N, Goldgar D et al and Le Groupe d'\u00c9tude des Tumeurs \u00e0 Calcitonine: Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Am J Hum Genet 1997; 60: 233\u2013237.","journal-title":"Am J Hum Genet"},{"key":"BF5201029_CR18","first-page":"1076","volume":"55","author":"KM Carlson","year":"1994","unstructured":"Carlson KM, Bracamontes J, Jackson CE et al: Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 1994; 55: 1076\u20131082.","journal-title":"Am J Hum Genet"},{"key":"BF5201029_CR19","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/978-1-4615-9068-2_4","volume":"5","author":"F Vogel","year":"1975","unstructured":"Vogel F, Rathenberg R : Spontaneous mutation in man. Adv Hum Genet 1975; 5: 223\u2013318.","journal-title":"Adv Hum Genet"},{"issue":"Suppl","key":"BF5201029_CR20","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1002\/em.2850250609","volume":"26","author":"JB Drost","year":"1995","unstructured":"Drost JB, Lee WR : Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. Environ Mol Mutagen 1995; 26 (Suppl): 48\u201364.","journal-title":"Environ Mol Mutagen"},{"key":"BF5201029_CR21","first-page":"152","volume":"52","author":"RP Ketterling","year":"1993","unstructured":"Ketterling RP, Vielhaber E, Bottema CDK et al: Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet 1993; 52: 152\u2013166.","journal-title":"Am J Hum Genet"},{"key":"BF5201029_CR22","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/35049558","volume":"1","author":"JF Crow","year":"2000","unstructured":"Crow JF : The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 2000; 1: 40\u201347.","journal-title":"Nat Rev Genet"},{"key":"BF5201029_CR23","doi-asserted-by":"publisher","first-page":"14952","DOI":"10.1073\/pnas.232568699","volume":"99","author":"I Tiemann-Boege","year":"2002","unstructured":"Tiemann-Boege I, Navidi W, Grewal R et al: The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci USA 2002; 99: 14952\u201314957.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201029_CR24","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1093\/hmg\/6.1.137","volume":"6","author":"M Oldridge","year":"1997","unstructured":"Oldridge M, Lunt PW, Zackai EH et al. Genotype\u2013phenotype correlation for nucleotide substitutions in the IgII\u2013IgIII linker of FGFR2. Hum Mol Genet 1997; 6: 137\u2013143.","journal-title":"Hum Mol Genet"},{"key":"BF5201029_CR25","doi-asserted-by":"publisher","first-page":"1987","DOI":"10.1093\/hmg\/4.10.1987","volume":"4","author":"Y Kitamura","year":"1995","unstructured":"Kitamura Y, Scavarda N, Wells Jr AS, Jackson CE, Goodfellow PJ : Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. Hum Mol Genet 1995; 4: 1987\u20131988.","journal-title":"Hum Mol Genet"},{"key":"BF5201029_CR26","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/343558a0","volume":"343","author":"D Jadayel","year":"1990","unstructured":"Jadayel D, Fain P, Upadhyaya M et al: Paternal origin of new mutations in Von Recklinghausen neurofibromatosis. Nature 1990; 343: 558\u2013559.","journal-title":"Nature"},{"key":"BF5201029_CR27","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1007\/s004390050287","volume":"98","author":"C L\u00e1zaro","year":"1996","unstructured":"L\u00e1zaro C, Gaona A, Ainsworth P et al: Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 1996; 98: 696\u2013699.","journal-title":"Hum Genet"},{"key":"BF5201029_CR28","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1007\/s004390050531","volume":"100","author":"TP Dryja","year":"1997","unstructured":"Dryja TP, Morrow JF, Rapaport JM : Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene. Hum Genet 1997; 100: 446\u2013449.","journal-title":"Hum Genet"},{"key":"BF5201029_CR29","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.1086\/320109","volume":"68","author":"R Trappe","year":"2000","unstructured":"Trappe R, Laccone F, Cobilanschi J et al: MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2000; 68: 1093\u20131101.","journal-title":"Am J Hum Genet"},{"key":"BF5201029_CR30","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s00439-002-0738-y","volume":"111","author":"PS Roberts","year":"2002","unstructured":"Roberts PS, Chung J, Jozwiak S et al: SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet 2002; 111: 96\u2013101.","journal-title":"Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201029.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201029","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201029.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:29:54Z","timestamp":1684373394000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,26]]},"references-count":30,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["BF5201029"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201029","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,26]]}}}