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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y. Narumi Y, et al. Among authors: kobayashi t. J Hum Genet. 2008;53(9):834-841. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651097
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.
Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N, Fujiwara I, Kure S. Uematsu M, et al. Among authors: kobayashi t. J Neurol Sci. 2012 Apr 15;315(1-2):77-81. doi: 10.1016/j.jns.2011.11.025. Epub 2011 Dec 12. J Neurol Sci. 2012. PMID: 22166853
Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome.
Kakisaka Y, Kobayashi T, Uematsu M, Numata Y, Hirose M, Hino-Fukuyo N, Tsuchiya S, Doi H, Fukuda H, Kure S. Kakisaka Y, et al. Among authors: kobayashi t. Tohoku J Exp Med. 2013 Jan;229(1):83-6. doi: 10.1620/tjem.229.83. Tohoku J Exp Med. 2013. PMID: 23291611 Free article.
Periodic Eye Movements and Epileptic Spasms in West Syndrome.
Kakisaka Y, Kobayashi T, Hino-Fukuyo N, Uematsu M, Numata Y, Mori M, Kure S. Kakisaka Y, et al. Among authors: kobayashi t. J Child Neurol. 2013 Nov;28(11):1483-1484. doi: 10.1177/0883073813489169. Epub 2013 May 13. J Child Neurol. 2013. PMID: 23670250
RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. Nakayama T, et al. Among authors: kobayashi t. Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958593
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