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A nonsense mutation in MSX1 causes Witkop syndrome.
Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR. Jumlongras D, et al. Among authors: olsen br. Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16. Am J Hum Genet. 2001. PMID: 11369996 Free PMC article.
The gene for cherubism maps to chromosome 4p16.
Tiziani V, Reichenberger E, Buzzo CL, Niazi S, Fukai N, Stiller M, Peters H, Salzano FM, Raposo do Amaral CM, Olsen BR. Tiziani V, et al. Among authors: olsen br. Am J Hum Genet. 1999 Jul;65(1):158-66. doi: 10.1086/302456. Am J Hum Genet. 1999. PMID: 10364528 Free PMC article.
Secreted cathepsin L generates endostatin from collagen XVIII.
Felbor U, Dreier L, Bryant RA, Ploegh HL, Olsen BR, Mothes W. Felbor U, et al. Among authors: olsen br. EMBO J. 2000 Mar 15;19(6):1187-94. doi: 10.1093/emboj/19.6.1187. EMBO J. 2000. PMID: 10716919 Free PMC article.
Bone development.
Olsen BR, Reginato AM, Wang W. Olsen BR, et al. Annu Rev Cell Dev Biol. 2000;16:191-220. doi: 10.1146/annurev.cellbio.16.1.191. Annu Rev Cell Dev Biol. 2000. PMID: 11031235 Review.
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: olsen br. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.
373 results