The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Mandibulofacial Dysostosis

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Mandibulofacial Dysostosis


High impact information on Mandibulofacial Dysostosis


Chemical compound and disease context of Mandibulofacial Dysostosis


Biological context of Mandibulofacial Dysostosis


Anatomical context of Mandibulofacial Dysostosis


Gene context of Mandibulofacial Dysostosis


Analytical, diagnostic and therapeutic context of Mandibulofacial Dysostosis


  1. Further delineation of mandibulofacial dysostosis: Toriello type. Puri, R.D., Phadke, S.R. Clin. Dysmorphol. (2002) [Pubmed]
  2. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M., Jabs, E.W. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  3. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Dixon, J., Dixon, M.J. Dev. Dyn. (2004) [Pubmed]
  4. Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. Mogass, M., York, T.P., Li, L., Rujirabanjerd, S., Shiang, R. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  5. Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia. Richieri-Costa, A., Guion-Almeida, M.L., van den Ende, J. Am. J. Med. Genet. (1991) [Pubmed]
  6. Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. Kay, E.D., Kay, C.N. Am. J. Med. Genet. (1989) [Pubmed]
  7. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Sulik, K.K., Johnston, M.C., Smiley, S.J., Speight, H.S., Jarvis, B.E. Am. J. Med. Genet. (1987) [Pubmed]
  8. Teratological studies on craniofacial malformations. Jacobsson, C. Swedish dental journal. Supplement. (1997) [Pubmed]
  9. Mild mandibulofacial dysostosis in a child with a deletion of 3p. Arn, P.H., Mankinen, C., Jabs, E.W. Am. J. Med. Genet. (1993) [Pubmed]
  10. A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis. Caldarelli, D.D., Hutchinson, J.G., Pruzansky, S., Valvassori, G.E. The Cleft palate journal. (1980) [Pubmed]
  11. Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Paznekas, W.A., Zhang, N., Gridley, T., Jabs, E.W. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  12. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. Shoo, B.A., McPherson, E., Jabs, E.W. Am. J. Med. Genet. A (2004) [Pubmed]
  13. Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome). Meizner, I., Carmi, R., Katz, M. Journal of clinical ultrasound : JCU. (1991) [Pubmed]
WikiGenes - Universities