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Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.
Kaplan FS, Xu M, Feldman G, Brown M, Cho TJ, Choi IH, Connor JM, Delai PL, Economides AN, Glaser DL, Groppe J, Katagiri T, Le Merrer M, Morhart R, Ravazzolo R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Shore EM. Kaplan FS, et al. Among authors: glaser dl. Genet Couns. 2008;19(3):357-9; author reply 361-3. Genet Couns. 2008. PMID: 18990993 No abstract available.
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. Shore EM, et al. Among authors: glaser dl. Nat Genet. 2006 May;38(5):525-7. doi: 10.1038/ng1783. Epub 2006 Apr 23. Nat Genet. 2006. PMID: 16642017
Fibrodysplasia ossificans progressiva.
Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM. Kaplan FS, et al. Among authors: glaser dl. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):191-205. doi: 10.1016/j.berh.2007.11.007. Best Pract Res Clin Rheumatol. 2008. PMID: 18328989 Free PMC article. Review.
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. Kaplan FS, et al. Among authors: glaser dl. Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868. Hum Mutat. 2009. PMID: 19085907 Free PMC article.
Fibrodysplasia ossificans progressiva.
Mahboubi S, Glaser DL, Shore EM, Kaplan FS. Mahboubi S, et al. Among authors: glaser dl. Pediatr Radiol. 2001 May;31(5):307-14. doi: 10.1007/s002470100447. Pediatr Radiol. 2001. PMID: 11379597
Early diagnosis of fibrodysplasia ossificans progressiva.
Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM. Kaplan FS, et al. Among authors: glaser dl. Pediatrics. 2008 May;121(5):e1295-300. doi: 10.1542/peds.2007-1980. Pediatrics. 2008. PMID: 18450872 Free PMC article.
81 results