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Page 1
The phenotypic spectrum of COL2A1 mutations.
Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. Nishimura G, et al. Among authors: kitoh h. Hum Mutat. 2005 Jul;26(1):36-43. doi: 10.1002/humu.20179. Hum Mutat. 2005. PMID: 15895462
Deformity of the great toe in fibrodysplasia ossificans progressiva.
Nakashima Y, Haga N, Kitoh H, Kamizono J, Tozawa K, Katagiri T, Susami T, Fukushi J, Iwamoto Y. Nakashima Y, et al. Among authors: kitoh h. J Orthop Sci. 2010 Nov;15(6):804-9. doi: 10.1007/s00776-010-1542-5. Epub 2010 Nov 30. J Orthop Sci. 2010. PMID: 21116899
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.
Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, Jimi E, Maruki Y, Matsuoka M, Namba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Furuya H, Kamizono J, Kitoh H, Nakashima Y, Susami T, Haga N, Komori T, Katagiri T. Ohte S, et al. Among authors: kitoh h. Biochem Biophys Res Commun. 2011 Apr 1;407(1):213-8. doi: 10.1016/j.bbrc.2011.03.001. Epub 2011 Mar 4. Biochem Biophys Res Commun. 2011. PMID: 21377447
Isolated bifid rib: clinical and radiological findings in children.
Kaneko H, Kitoh H, Mabuchi A, Mishima K, Matsushita M, Ishiguro N. Kaneko H, et al. Among authors: kitoh h. Pediatr Int. 2012 Dec;54(6):820-3. doi: 10.1111/j.1442-200X.2012.03672.x. Epub 2012 Sep 11. Pediatr Int. 2012. PMID: 22640412
172 results