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Exostoses, Multiple Hereditary

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  1. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Momeni, P., Glöckner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Lüdecke, H.J. Nat. Genet. (2000) [Pubmed]
  2. Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. Wordsworth, P., Ogilvie, D., Priestley, L., Smith, R., Wynne-Davies, R., Sykes, B. J. Med. Genet. (1988) [Pubmed]
  3. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). Faiyaz-Ul-Haque, M., Ahmad, W., Zaidi, S.H., Hussain, S., Haque, S., Ahmad, M., Cohn, D.H., Tsui, L.C. Clin. Genet. (2004) [Pubmed]
  4. Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma. Tsuchiya, T., Osanai, T., Ogose, A., Tamura, G., Chano, T., Kaneko, Y., Ishikawa, A., Orui, H., Wada, T., Ikeda, T., Namba, M., Takigawa, M., Kawashima, H., Hotta, T., Tsuchiya, A., Ogino, T., Motoyama, T. Cancer Genet. Cytogenet. (2005) [Pubmed]
  5. The Langer-Giedion syndrome: report of a 22-year old woman. Wilson, W.G., Herrington, R.T., Aylsworth, A.S. Pediatrics (1979) [Pubmed]
  6. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Stickens, D., Clines, G., Burbee, D., Ramos, P., Thomas, S., Hogue, D., Hecht, J.T., Lovett, M., Evans, G.A. Nat. Genet. (1996) [Pubmed]
  7. Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Cheung, P.K., McCormick, C., Crawford, B.E., Esko, J.D., Tufaro, F., Duncan, G. Am. J. Hum. Genet. (2001) [Pubmed]
  8. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Lüdecke, H.J., Wagner, M.J., Nardmann, J., La Pillo, B., Parrish, J.E., Willems, P.J., Haan, E.A., Frydman, M., Hamers, G.J., Wells, D.E. Hum. Mol. Genet. (1995) [Pubmed]
  9. Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma. Feely, M.G., Boehm, A.K., Bridge, R.S., Krallman, P.A., Neff, J.R., Nelson, M., Bridge, J.A. Cancer Genet. Cytogenet. (2002) [Pubmed]
  10. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Bernard, M.A., Hall, C.E., Hogue, D.A., Cole, W.G., Scott, A., Snuggs, M.B., Clines, G.A., Lüdecke, H.J., Lovett, M., Van Winkle, W.B., Hecht, J.T. Cell Motil. Cytoskeleton (2001) [Pubmed]
  11. Role of FGF9 and FGF receptor 3 in osteochondroma formation. Robinson, D., Hasharoni, A., Oganesian, A., Sandell, L.J., Yayon, A., Nevo, Z. Orthopedics. (2001) [Pubmed]
  12. EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses. Legeai-Mallet, L., Rossi, A., Benoist-Lasselin, C., Piazza, R., Mallet, J.F., Delezoide, A.L., Munnich, A., Bonaventure, J., Zylberberg, L. J. Bone Miner. Res. (2000) [Pubmed]
  13. Otosclerosis in multiple exostosis. Punnakanta, L., Chavalittamrong, B., Tuchinda, C., Angsusingha, K. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (1979) [Pubmed]
  14. Coexistence of hereditary multiple exostoses and ankylosing spondylitis. Olmez, N., Günaydin, R., Gürgan, A., Elçin, F. Clin. Rheumatol. (1999) [Pubmed]
  15. Picture of the month. Hereditary multiple exostoses (diaphyseal aclasis). Feingold, M. Am. J. Dis. Child. (1984) [Pubmed]
  16. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Vink, G.R., White, S.J., Gabelic, S., Hogendoorn, P.C., Breuning, M.H., Bakker, E. Eur. J. Hum. Genet. (2005) [Pubmed]
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