| 1 | POLR1D, TCOF1, TCS, TCSPD
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| Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
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| Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B.
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| Genet Med 16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6.
2014
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| 2 | TCOF1, TCS
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| Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
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| Bowman M, Oldridge M, Archer C, O'Rourke A, McParland J, Brekelmans R, Seller A, Lester T.
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| Eur J Hum Genet 20(7):769-77. doi: 10.1038/ejhg.2012.2. Epub 2012 Feb 8.
2012
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| 3 | TCOF1, TCS
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| Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
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| Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G.
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| BMC Med Genet 12:125. doi: 10.1186/1471-2350-12-125.
2011
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| 4 | TCOF1, TCS
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| Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
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| Richter CA, Amin S, Linden J, Dixon J, Dixon MJ, Tucker AS.
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| Hum Mol Genet 19(8):1551-60. Epub 2010 Jan 27.PMID: 20106873 2010
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| 5 | TCOF1, TCS
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| A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.
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| Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR.
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| Am J Med Genet A 149A(8):1624-7.PMID: 19572402 2009
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| 6 | TCOF1, TCS
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| Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
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| Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR.
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| BMC Med Genet 10:136.PMID: 20003452 2009
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| 7 | TCOF1, TCS
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| Treacher Collins syndrome: etiology, pathogenesis and prevention.
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| Trainor PA, Dixon J, Dixon MJ.
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| Eur J Hum Genet 17(3):275-83. Epub 2008 Dec 24.PMID: 19107148 2009
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| 8 | TCOF1, TCS
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| Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
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| Sakai D, Trainor PA.
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| Int J Biochem Cell Biol 41(6):1229-32. Epub 2008 Nov 5. Review.PMID: 19027870 2009
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| 9 | TCOF1, TCS
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| Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
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| Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH.
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| Am J Med Genet A 146A(18):2327-31. 2008
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| 10 | TCOF1, TCS
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| Identification of mutations in TCOF1: Use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
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| Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ.
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| Am J Med Genet 127A(3):244-8. 2004
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| 11 | TCOF1, TCS
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| Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
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| Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, Konig R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D.
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| Eur J Hum Genet 12(11):879-90. 2004
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| 12 | TCOF1, TCS
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| Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
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| Dixon J, Brakebusch C, Fassler R, Dixon MJ.
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| Hum Mol Genet 9(10):1473-80. 2000
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| 13 | TCOF1, TCS
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| The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
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| Edwards SJ, et al.
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| Am J Hum Genet 60 : 515-524. 1997
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| 14 | TCOF1, TCS
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| Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
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| Dixon J, et al.
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| Genome Res 7 : 223-234. 1997
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| 15 | LGMD1A, TCOF1, TCS
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| The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
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| Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R.
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| Am J Hum Genet 49(1):17-22. 1991
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