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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: brown ma. Nat Genet. 2006 May;38(5):525-7. doi: 10.1038/ng1783. Epub 2006 Apr 23. Nat Genet. 2006. PMID: 16642017
International physician survey on management of FOP: a modified Delphi study.
Di Rocco M, Baujat G, Bertamino M, Brown M, De Cunto CL, Delai PLR, Eekhoff EMW, Haga N, Hsiao E, Keen R, Morhart R, Pignolo RJ, Kaplan FS. Di Rocco M, et al. Orphanet J Rare Dis. 2017 Jun 12;12(1):110. doi: 10.1186/s13023-017-0659-4. Orphanet J Rare Dis. 2017. PMID: 28606101 Free PMC article.
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.
Mantick N, Bachman E, Baujat G, Brown M, Collins O, De Cunto C, Delai P, Eekhoff M, Zum Felde R, Grogan DR, Haga N, Hsiao E, Kantanie S, Kaplan F, Keen R, Milosevic J, Morhart R, Pignolo R, Qian X, di Rocco M, Scott C, Sherman A, Wallace M, Williams N, Zhang K, Bogard B. Mantick N, et al. Bone. 2018 Apr;109:285-290. doi: 10.1016/j.bone.2017.08.032. Epub 2017 Sep 1. Bone. 2018. PMID: 28866367
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).
Hsiao EC, Di Rocco M, Cali A, Zasloff M, Al Mukaddam M, Pignolo RJ, Grunwald Z, Netelenbos C, Keen R, Baujat G, Brown MA, Cho TJ, De Cunto C, Delai P, Haga N, Morhart R, Scott C, Zhang K, Diecidue RJ, Friedman CS, Kaplan FS, Eekhoff EMW. Hsiao EC, et al. Among authors: brown ma. Br J Clin Pharmacol. 2019 Jun;85(6):1199-1207. doi: 10.1111/bcp.13777. Epub 2018 Nov 6. Br J Clin Pharmacol. 2019. PMID: 30281842 Free PMC article. Review.
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
Kou S, De Cunto C, Baujat G, Wentworth KL, Grogan DR, Brown MA, Di Rocco M, Keen R, Al Mukaddam M, le Quan Sang KH, Masharani U, Kaplan FS, Pignolo RJ, Hsiao EC. Kou S, et al. Among authors: brown ma. Orphanet J Rare Dis. 2020 Jul 29;15(1):193. doi: 10.1186/s13023-020-01465-x. Orphanet J Rare Dis. 2020. PMID: 32727600 Free PMC article.
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP).
Pignolo RJ, Hsiao EC, Al Mukaddam M, Baujat G, Berglund SK, Brown MA, Cheung AM, De Cunto C, Delai P, Haga N, Kannu P, Keen R, Le Quan Sang KH, Mancilla EE, Marino R, Strahs A, Kaplan FS. Pignolo RJ, et al. Among authors: brown ma. J Bone Miner Res. 2023 Mar;38(3):381-394. doi: 10.1002/jbmr.4762. Epub 2023 Jan 25. J Bone Miner Res. 2023. PMID: 36583535 Free article.
1,543 results