Provider: Nature Publishing Group Content: application/x-research-info-systems TY - JOUR AU - Johnston, M.C. AU - Bronsky, P.T. TI - Embryonic craniofacial development JO - Prog. Clin. Biol. Res. PY - 1991/// VL - 337 SP - 99 EP - 115 ER - TY - GEN AU - Gorlin, R.J. AU - Cohen, M.M. AU - Levin, L.S. TI - Syndromes of the Head and Neck. PY - 1990/// ER - TY - JOUR AU - Treacher Collins, E. TI - Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones JO - Trans Ophthalmol. Soc. UK. PY - 1900/// VL - 20 SP - 190 EP - 192 ER - TY - JOUR AU - Franceschetti, A. AU - Klein, D. TI - Mandibulo-facial dysostosis: New hereditary syndrome JO - Acta Ophthamol. PY - 1949/// VL - 27 SP - 143 EP - 224 ER - TY - JOUR AU - Jones, K.L. AU - Smith, D.W. AU - Harvey, M.A. AU - Hall, B.D. AU - Quan, L. TI - Older paternal age and fresh gene mutation: data on additional disorders JO - J. Pediatr. PY - 1975/// VL - 86 SP - 84 EP - 88 ER - TY - JOUR AU - Phelps, P.D. AU - Poswillo, D. AU - Lloyd, G.A.S. TI - The ear deformities in mandibulofacial dysostosis JO - Clin. Otolaryngol. PY - 1981/// VL - 6 SP - 15 EP - 28 ER - TY - JOUR AU - Rovin, S. AU - Dachi, S.F. AU - Borenstein, D.B. AU - Cotter, W.B. TI - Mandibulofacial dysostosis, a familial study of five generations JO - J. Pediatr. PY - 1964/// VL - 65 SP - 215 EP - 221 ER - TY - JOUR AU - Fazen, L.E. AU - Elmore, J. AU - Nadler, H.L. TI - Mandibulo-facial dysostosis (Treacher Collins syndrome) JO - Am. J. Dis. Child. PY - 1967/// VL - 113 SP - 406 EP - 410 ER - TY - JOUR AU - Dixon, M.J. AU - Marres, H.A.M. AU - Edwards, S. AU - Dixon, J. AU - Cremers, C.W.R.J. TI - Treacher Collins syndrome: Correlation between clinical and genetic linkage studies JO - Clin. Dysmorph. PY - 1994/// VL - 3 SP - 96 EP - 103 ER - TY - JOUR AU - Marres, H.A.M. AU - Cremers, C.W.R.J. AU - Dixon, M.J. AU - Huygen, R.L.M. AU - F.B.M., Joosten TI - The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees JO - Archs. Otol. PY - 1995/// VL - 121 SP - 509 EP - 514 ER - TY - JOUR AU - Poswillo, D. TI - The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis) JO - Br. J. Oral Surg. PY - 1975/// VL - 13 SP - 1 EP - 26 ER - TY - JOUR AU - Wiley, M.J. AU - Cauwenbergs, P. AU - Taylor, I.M. TI - Effects of retinoic acid on the development of the facial skeleton in hamsters; early changes involving neural crest cells JO - Acta. Anat. PY - 1983/// VL - 116 SP - 180 EP - 192 ER - TY - JOUR AU - Sulik, K.K. AU - Johnston, M.C. AU - Smiley, S.J. AU - Speight, H.S. AU - Jarvis, B.E. TI - Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis JO - Am. J. Med. Genet. PY - 1987/// VL - 27 SP - 359 EP - 372 ER - TY - JOUR AU - Mandel, J.L. TI - Trinucleotide diseases on the rise JO - Nature Genet. PY - 1994/// VL - 7 SP - 453 EP - 455 M3 - 10.1038/ng0894-453 N1 - 10.1038/ng0894-453 UR - http://dx.doi.org/10.1038/ng0894-453 ER - TY - JOUR AU - Dixon, M.J. TI - The gene for Treacher Collins syndrome maps to the long arm of chromosome 5 JO - Am. J. Hum. Genet. PY - 1991/// VL - 40 SP - 17 EP - 22 ER - TY - JOUR AU - Jabs, E.W. TI - Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3 JO - Genomics PY - 1991/// VL - 11 SP - 193 EP - 198 ER - TY - JOUR AU - Loftus, S.K. TI - A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q JO - Hum. Mol. Genet. PY - 1993/// VL - 2 SP - 1785 EP - 1792 ER - TY - JOUR AU - Edery, P. TI - Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome JO - Am. J. Med. Genet. PY - 1994/// VL - 52 SP - 174 EP - 177 ER - TY - JOUR AU - Dixon, M.J. TI - Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1 JO - Am. J. Hum. Genet. PY - 1993/// VL - 52 SP - 907 EP - 914 ER - TY - JOUR AU - Dixon, J. TI - A yeast artificial chromosome contig encompassing the Treacher Collins syndrome critical region at 5q31.3[ndash]32 JO - Am. J. Hum. Genet. PY - 1994/// VL - 55 SP - 372 EP - 378 ER - TY - GEN AU - Loftus, S.K. TI - Genome Res. PY - /// ER - TY - JOUR AU - Jabs, E.W. TI - Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region JO - Genomics PY - 1993/// VL - 18 SP - 7 EP - 13 M3 - 10.1006/geno.1993.1420 N1 - 10.1006/geno.1993.1420 UR - http://dx.doi.org/10.1006/geno.1993.1420 ER - TY - JOUR AU - Breathnach, R. AU - Chambon, P. TI - Organization and expression of eukaryotic split genes coding for proteins JO - Annu. Rev. Biochem. PY - 1981/// VL - 50 SP - 349 EP - 383 M3 - 10.1146/annurev.bi.50.070181.002025 N1 - 10.1146/annurev.bi.50.070181.002025 UR - http://dx.doi.org/10.1146/annurev.bi.50.070181.002025 ER - TY - JOUR AU - Shiang, R. TI - Mutations in the transmembrane domain of FGFR3 cause the most common form of dwarfism, achondroplasia JO - Cell PY - 1994/// VL - 78 SP - 11 EP - 20 M3 - 10.1016/0092-8674(94)90302-6 N1 - 10.1016/0092-8674(94)90302-6 UR - http://dx.doi.org/10.1016/0092-8674(94)90302-6 ER - TY - JOUR AU - Hastabacka, J. TI - The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping JO - Cell PY - 1994/// VL - 78 SP - 1073 EP - 1087 M3 - 10.1016/0092-8674(94)90281-X N1 - 10.1016/0092-8674(94)90281-X UR - http://dx.doi.org/10.1016/0092-8674(94)90281-X ER - TY - JOUR AU - Bonner, C.A. AU - Loftus, S.K. AU - Wasmuth, J.J. TI - Isolation, characterization, and precise physical localization of human CDX1, a caudal-type homeobox gene JO - Genomics PY - 1995/// VL - 28 SP - 206 EP - 211 M3 - 10.1006/geno.1995.1132 N1 - 10.1006/geno.1995.1132 UR - http://dx.doi.org/10.1006/geno.1995.1132 ER - TY - JOUR AU - Dixon, J. TI - Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32[ndash]33.1 JO - Genomics PY - 1995/// VL - 26 SP - 239 EP - 244 M3 - 10.1016/0888-7543(95)80206-2 N1 - 10.1016/0888-7543(95)80206-2 UR - http://dx.doi.org/10.1016/0888-7543(95)80206-2 ER - TY - JOUR AU - Del Mastro, R. TI - Human chromosome-specific cDNA libraries. New tools for gene identification and genome annotation JO - Genome Res. PY - 1995/// VL - 5 SP - 185 EP - 194 ER - TY - JOUR AU - Li, S.H. TI - Huntington's disease gene (IT15) is widely expressed in human and rat tissues JO - Neuron PY - 1993/// VL - 11 SP - 985 EP - 993 M3 - 10.1016/0896-6273(93)90127-D N1 - 10.1016/0896-6273(93)90127-D UR - http://dx.doi.org/10.1016/0896-6273(93)90127-D ER - TY - JOUR AU - Fisher, E. AU - Scambler, P.J. TI - Human haploinsufficiency - one for sorrow, two for joy JO - Nature Genet. PY - 1994/// VL - 7 SP - 5 EP - 7 M3 - 10.1038/ng0594-5 N1 - 10.1038/ng0594-5 UR - http://dx.doi.org/10.1038/ng0594-5 ER - TY - JOUR AU - Tassabehji, M. TI - Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene JO - Nature PY - 1992/// VL - 355 SP - 635 EP - 636 M3 - 10.1038/355635a0 N1 - 10.1038/355635a0 UR - http://dx.doi.org/10.1038/355635a0 ER - TY - JOUR AU - Baldwin, C.T. AU - Hoth, C.F. AU - Amos, J.A. AU - da-Silva, E.G. AU - Milunsky, A. TI - An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome JO - Nature PY - 1992/// VL - 355 SP - 637 EP - 638 M3 - 10.1038/355637a0 N1 - 10.1038/355637a0 UR - http://dx.doi.org/10.1038/355637a0 ER - TY - JOUR AU - Gladwin, A.J. AU - Dixon, J. AU - Loftus, S.K. AU - Wasmuth, J.J. AU - Dixon, M.J. TI - Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome JO - Genomics PY - /// SP - EP - ER - TY - JOUR AU - Dixon, M.J. TI - Association of Treacher Collins syndrome and translocation (6:16)(p21.31;p13.11) exclusion of the locus from these candidate regions JO - Am. J. Hum. Genet. PY - 1991/// VL - 48 SP - 274 EP - 280 ER - TY - JOUR AU - Balestrazzi, P. AU - Baeteman, M.A. AU - Mattei, M.G. AU - Mattei, J.F. TI - Franceshetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B JO - Hum. Genet. PY - 1983/// VL - 64 SP - 305 EP - 308 ER - TY - JOUR AU - Jabs, E.W. TI - Chromosomal deletion 4p15.32[ndash]p14 in a Treacher Collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region JO - Genomics PY - 1991/// VL - 11 SP - 188 EP - 192 ER - TY - JOUR AU - Arn, P.H. AU - Mankinen, C. AU - Jabs, E.W. TI - Mild mandibulofacial dysostosis in a child with a deletion of 3p JO - Am. J. Med. Genet. PY - 1993/// VL - 46 SP - 534 EP - 536 ER - TY - JOUR AU - Dixon, M.J. TI - Genetic and physical mapping of the Treacher Collins syndrome locus: Refinement of the localization to chromosome 5q32[ndash]33.2 JO - Hum. Mol. Genet. PY - 1992/// VL - 1 SP - 249 EP - 253 ER - TY - GEN AU - Sambrook, J. AU - Fritsch, E.F. AU - Maniatis, T. TI - Molecular cloning: a laboratory manual. PY - 1989/// ER - TY - JOUR AU - Sanger, F. AU - Nicklen, S. AU - Coulson, A.R. TI - DNA sequencing with chain terminating inhibitors JO - Proc. Nat. Acad. Sci. USA PY - 1977/// VL - 74 SP - 5463 EP - 5467 ER - TY - JOUR AU - Artschul, S.F. AU - Gish, W. AU - Miller, W. AU - Myer, E.W. AU - Lipman, D.J. TI - Basic local alignment search tool JO - J. Molec. Biol. PY - 1990/// VL - 215 SP - 403 EP - 410 M3 - 10.1006/jmbi.1990.9999 N1 - 10.1006/jmbi.1990.9999 UR - http://dx.doi.org/10.1006/jmbi.1990.9999 ER - TY - JOUR AU - Church, D.M. TI - Isolation of genes from complex sources of mammalian genomic DNA using exon amplification JO - Nature Genet. PY - 1994/// VL - 6 SP - 98 EP - 105 M3 - 10.1038/ng0194-98 N1 - 10.1038/ng0194-98 UR - http://dx.doi.org/10.1038/ng0194-98 ER - TY - JOUR AU - Rashtchian, A. AU - Buchman, G.W. AU - Schuster, D.M. AU - Berninger, M.S. TI - Uracil DNA Glycosylase mediated cloning of polymerase chain reaction-amplified DNA: Application to genomic and cDNA cloning JO - Anal. Biochem. PY - 1992/// VL - 206 SP - 91 EP - 97 ER - TY - JOUR AU - Feinberg, A.P. AU - Vogelstein, B. TI - A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity JO - Anal. Biochem. PY - 1983/// VL - 132 SP - 6 EP - 13 ER -