Gorlin RJ, Cohen MM, Hennekam RC: Branchial Arch and oral-Acral Disorders. Syndromes of the Head and Neck. 2001, Oxford: Oxford University Press, 790-849. 4
Google Scholar
Dixon MJ, Marres HAM, Edwards SJ, Dixon J, Cremers CWRJ: Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol. 1994, 3: 96-103. 10.1097/00019605-199404000-00002.
Article
CAS
PubMed
Google Scholar
Splendore A, Fanganiello RD, Masotti C, Morganti LSC, Passos-Bueno MR: TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mut. 2005, 25: 429-434. 10.1002/humu.20159.
Article
CAS
PubMed
Google Scholar
Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC: The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Gene. 2005, 14 (14): 2035-43. 10.1093/hmg/ddi208.
Article
CAS
Google Scholar
Isaac C, Marsh KL, Panzekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT: Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell. 2001, 11: 188-192.
Google Scholar
Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ: Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Gen. 1996, 5: 1533-1538. 10.1093/hmg/5.10.1533.
Article
CAS
PubMed
Google Scholar
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: 515-524.
CAS
PubMed
PubMed Central
Google Scholar
Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König 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: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004, 12 (11): 879-90. 10.1038/sj.ejhg.5201260.
Article
PubMed
Google Scholar
Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR: High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations in 16 novel pathogenic changes. Hum Mutat. 2000, 16: 315-322. 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.
Article
CAS
PubMed
Google Scholar
The Treacher Collins Collaborative Group: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Gen. 1996, 12: 130-136. 10.1038/ng0296-130.
Article
Google Scholar
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: 727-737. 10.1093/hmg/6.5.727.
Article
CAS
PubMed
Google Scholar
Dixon J, Brakebusch C, Fassler R, Dixon M: Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins. Hum Mol Gen. 2000, 9: 1473-1480. 10.1093/hmg/9.10.1473.
Article
CAS
PubMed
Google Scholar
Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA: Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci USA. 2006, 103 (36): 13403-8. 10.1073/pnas.0603730103.
Article
CAS
PubMed
PubMed Central
Google Scholar
Goverdhan SV, Temple IK, Self J, Lotery AJ, Dixon MJ, Evans AR: Macular degeneration associated with a novel Treacher Collins TCOF1 mutation and evaluation of this mutation in age related macular degeneration. Br J Ophthalmol. 2005, 89 (8): 1063-4. 10.1136/bjo.2004.064139.
Article
CAS
PubMed
PubMed Central
Google Scholar
Karp NS, McCarthy JG, Schreiber JS, Sissons HA, Thorne CH: bone lengthening: a serial histological study. Ann Plast Surg. 1992, 29 (1): 2-7. 10.1097/00000637-199207000-00002.
Article
CAS
PubMed
Google Scholar
Stelnicki EJ, Lin WY, Lee C, Grayson BH, McCarthy JG: Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia. Plast Reconstr Surg. 2002, 109 (6): 1819-25. 10.1097/00006534-200205000-00006.
Article
PubMed
Google Scholar
Gürsoy S, Hukki J, Hurmerinta K: Five year follow-up of mandibular distraction osteogenesis on the dentofacial structures of syndromic children. Orthod Craniofac Res. 2008, 11: 57-64.
Article
PubMed
Google Scholar
Bueno DF, Kerkis I, Costa AM, Martins MT, Kobayashi GS, Zucconi E, Fanganiello RD, Salles FT, Almeida AB, do Amaral CE, Alonso N, Passos-Bueno MR: New Source of Muscle-Derived Stem Cells with Potential for Alveolar Bone Reconstruction in Cleft Lip and/or Palate Patients. Tissue Eng Part A. 2009, 15 (2): 427-35. 10.1089/ten.tea.2007.0417.
Article
CAS
PubMed
Google Scholar
Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR: Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med. 2007, 13 (7-8): 422-42. 10.2119/2007-00027.Fanganiello.
Article
CAS
PubMed
PubMed Central
Google Scholar
Miller SA, Dykes DD, Polesky HF: A simple testing out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1998, 16: 1215-10.1093/nar/16.3.1215.
Article
Google Scholar
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: 493-495. 10.1136/jmg.39.7.493.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F: Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 2002, 3 (7): RESEARCH0034-10.1186/gb-2002-3-7-research0034.
Article
PubMed
PubMed Central
Google Scholar
Pfaffl MW: A new mathematical model for quantification in real-time-RT-PCR. Nucleic Acids Research. 2001, 2002-7. 9
Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ: Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A. 2004, 127A (3): 244-8. 10.1002/ajmg.a.30010.
Article
PubMed
Google Scholar
Winokur ST, Shiang R: The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in the C-terminus. Hum Mol Genet. 1998, 7: 1947-1952. 10.1093/hmg/7.12.1947.
Article
CAS
PubMed
Google Scholar
Kuzmiak HA, Maquat LE: Applying nonsense-metiated mRNA dacay research to the clinic: progress and challenges. TRENDS Mol Med. 2006, 12 (7): 306-316. 10.1016/j.molmed.2006.05.005.
Article
CAS
PubMed
Google Scholar
Gimelbrant A, Hutchinson JN, Thompson BR, Chess A: Widespread monoallelic expression on human autosomes. Science. 2007, 318 (5853): 1136-40. 10.1126/science.1148910.
Article
CAS
PubMed
Google Scholar
Kaern M, Elston TC, Blake WJ, Collins J: Stochasticity in gene expression: from theories to phenotypes. Nat Rev Genet. 2005, 6 (6): 451-64. 10.1038/nrg1615.
Article
CAS
PubMed
Google Scholar