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Page 1
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T. Kanemasa H, et al. Among authors: ishizaki y. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
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.
A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia.
Ohyama N, Torio M, Nakashima K, Koga Y, Kanno S, Nishio H, Nishiyama K, Sasazuki M, Kato H, Asakura H, Akamine S, Sanefuji M, Ishizaki Y, Sakai Y, Ohga S. Ohyama N, et al. Among authors: ishizaki y. Ann Clin Microbiol Antimicrob. 2017 Sep 18;16(1):61. doi: 10.1186/s12941-017-0240-y. Ann Clin Microbiol Antimicrob. 2017. PMID: 28923072 Free PMC article.
Sustained endocrine profiles of a girl with WAGR syndrome.
Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Takada Y, et al. Among authors: ishizaki y. BMC Med Genet. 2017 Oct 23;18(1):117. doi: 10.1186/s12881-017-0477-5. BMC Med Genet. 2017. PMID: 29061165 Free PMC article.
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.
392 results