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Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T. Inage E, et al. Among authors: shimojima k. Eur J Med Genet. 2010 May-Jun;53(3):159-61. doi: 10.1016/j.ejmg.2010.02.009. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219705
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. Liang JS, et al. Among authors: shimojima k. Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770923 Free article.
PRRT2 mutation in Japanese children with benign infantile epilepsy.
Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T. Okumura A, et al. Among authors: shimojima k. Brain Dev. 2013 Aug;35(7):641-6. doi: 10.1016/j.braindev.2012.09.015. Epub 2012 Nov 3. Brain Dev. 2013. PMID: 23131349
Pelizaeus-Merzbacher disease as a chromosomal disorder.
Yamamoto T, Shimojima K. Yamamoto T, et al. Among authors: shimojima k. Congenit Anom (Kyoto). 2013 Mar;53(1):3-8. doi: 10.1111/cga.12005. Congenit Anom (Kyoto). 2013. PMID: 23480352 Review.
142 results