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A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S. Akamine S, et al. Among authors: ishizaki y. Eur J Med Genet. 2018 Aug;61(8):451-454. doi: 10.1016/j.ejmg.2018.03.003. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510241
Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S. Akamine S, et al. Among authors: ishizaki y. Epilepsia Open. 2017 Nov 23;3(1):81-85. doi: 10.1002/epi4.12085. eCollection 2018 Mar. Epilepsia Open. 2017. PMID: 29588991 Free PMC article.
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.
Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Sakai Y, et al. Among authors: ishizaki y. Eur J Med Genet. 2013 Sep;56(9):475-83. doi: 10.1016/j.ejmg.2013.06.009. Epub 2013 Jul 5. Eur J Med Genet. 2013. PMID: 23832106
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Sakai Y, et al. Among authors: ishizaki y. BMC Med Genomics. 2014 Apr 22;7:19. doi: 10.1186/1755-8794-7-19. BMC Med Genomics. 2014. PMID: 24755370 Free PMC article.
392 results