MeSH Review:
Cherubism
- Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Quan, F., Grompe, M., Jakobs, P., Popovich, B.W. Hum. Mol. Genet. (1995)
- Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J.B., Kreiborg, S., Olsen, B.R., Reichenberger, E. Nat. Genet. (2001)
- Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Jafarov, T., Ferimazova, N., Reichenberger, E. Clin. Genet. (2005)
- Craniosynostosis in cherubism. Stiller, M., Urban, M., Golder, W., Tiziani, V., Reichenberger, E., Frege, J., Opitz, C., Peters, H. Am. J. Med. Genet. (2000)
- Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function. Miah, S.M., Hatani, T., Qu, X., Yamamura, H., Sada, K. Genes Cells (2004)
- Study of the cell biology and biochemistry of cherubism. Southgate, J., Sarma, U., Townend, J.V., Barron, J., Flanagan, A.M. J. Clin. Pathol. (1998)
- Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism. Mangion, J., Edkins, S., Goss, A.N., Stratton, M.R., Flanagan, A.M. J. Med. Genet. (2000)
- Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Lo, B., Faiyaz-Ul-Haque, M., Kennedy, S., Aviv, R., Tsui, L.C., Teebi, A.S. Am. J. Med. Genet. A (2003)