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0014071819
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Mandibulofacial dysostosis (Treacher Collins syndrome)
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Older paternal age and fresh gene mutation: Data on additional disorders
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The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome)
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Phelps, P.D., Poswillo, D. and Lloyd, G.A.S. (1981) The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin. Otolaryngol., 6, 15-28.
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Mandibulofacial dysostosis, a familial study of five generations
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Rovin, S., Dachi, S.F, Borenstein, D.B. and Cotter, W.B. (1964) Mandibulofacial dysostosis, a familial study of five generations. J. Pediatr., 65, 215-221.
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Rovin, S.1
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Identification of the complete coding sequence and genomic organisation of the Treacher Collins syndrome gene
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Dixon, M.J., Dixon, J., Edwards, S.J., Anderson, I., Brass, B. and Scambler, P.J. (1997) Identification of the complete coding sequence and genomic organisation of the Treacher Collins syndrome gene. Genome Res., 7, 223-234.
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Dixon, M.J.1
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Anderson, I.4
Brass, B.5
Scambler, P.J.6
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Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3
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Jabs, E.W., Li, X., Coss, C.A., Taylor, E.W., Meyers, D.A. and Weber, J.L. (1991) Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3. Genomics., 11, 193-198.
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Jabs, E.W.1
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Taylor, E.W.4
Meyers, D.A.5
Weber, J.L.6
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9
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A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q
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Loftus, S.K., Edwards, S.J., Scheipbier-Heddema, T., Buetow, K.H., Wasmuth, J.J. and Dixon, M.J. (1993) A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Hum. Mol. Genet., 2, 1785-1792.
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Loftus, S.K.1
Edwards, S.J.2
Scheipbier-Heddema, T.3
Buetow, K.H.4
Wasmuth, J.J.5
Dixon, M.J.6
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Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1
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Dixon, M.J., Dixon, J., Houseal, T., Bhatt, M., Ward, D.C., Klinger, K. and Landes, G.M. (1993) Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am. J. Hum. Genet., 52, 907-914.
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Dixon, M.J.1
Dixon, J.2
Houseal, T.3
Bhatt, M.4
Ward, D.C.5
Klinger, K.6
Landes, G.M.7
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11
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0028068087
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Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome
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Edery, P., Manach, Y., Le Merrer, M., Till, M., Vignal, A., Lyonnet, S. and Munnich, A. (1994) Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am. J. Med. Genet., 52, 174-177.
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Edery, P.1
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Le Merrer, M.3
Till, M.4
Vignal, A.5
Lyonnet, S.6
Munnich, A.7
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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
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The Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet., 12, 130-136.
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Treacher Collins syndrome may result from insertions, deletions or splicing mutation, which introduce a termination codon into the gene
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Gladwin, A.J., Dixon, J., Loftus, S.K., Edwards, S., Wasmuth, J.J., Hennekam, R.C.M. and Dixon, M.J. (1996) Treacher Collins syndrome may result from insertions, deletions or splicing mutation, which introduce a termination codon into the gene. Hum. Mol. Genet., 5, 1533-1538.
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Gladwin, A.J.1
Dixon, J.2
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Edwards, S.4
Wasmuth, J.J.5
Hennekam, R.C.M.6
Dixon, M.J.7
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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, S.J., Gladwin, A.J. and Dixon, M.J. (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon. Am. J. Hum. Genet., 60, 515-524.
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Edwards, S.J.1
Gladwin, A.J.2
Dixon, M.J.3
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15
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0030940878
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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
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Dixon, M.J., Dixon, J., Hovanes, K. and Shiang, R. (1997) 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., 6, 727-737.
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Dixon, M.J.1
Dixon, J.2
Hovanes, K.3
Shiang, R.4
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16
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Mutations in the Treacher Collins syndrome gene lead to mislocalisation of the nucleolar protein treacle
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Marsh, K.L., Dixon, J. and Dixon, M.J. (1998) Mutations in the Treacher Collins syndrome gene lead to mislocalisation of the nucleolar protein treacle. Hum. Mol. Genet., 7, 1795-1800.
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Marsh, K.L.1
Dixon, J.2
Dixon, M.J.3
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The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
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Winokur, S.T. and Shiang, R. (1998) The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. Hum. Mol. Genet., 7, 1947-1952.
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Noppl40 shuttles on tracks between nucleolus and cytoplasm
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The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis)
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Poswillo, D. (1975) The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br. J. Oral Surg., 13, 1-26.
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A short amino acid sequence able to specify nuclear localisation
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