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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: matsushita 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.
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: matsushita 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: matsushita 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.
De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. Sakai Y, et al. Among authors: matsushita y. Ann Hum Genet. 2016 Jul;80(4):235-40. doi: 10.1111/ahg.12157. Ann Hum Genet. 2016. PMID: 27346735
Blood Reference Intervals for Preterm Low-Birth-Weight Infants: A Multicenter Cohort Study in Japan.
Ochiai M, Matsushita Y, Inoue H, Kusuda T, Kang D, Ichihara K, Nakashima N, Ihara K, Ohga S, Hara T; Kyushu University High-Risk Neonatal Clinical Research Network, Japan. Ochiai M, et al. Among authors: matsushita y. PLoS One. 2016 Aug 23;11(8):e0161439. doi: 10.1371/journal.pone.0161439. eCollection 2016. PLoS One. 2016. PMID: 27552225 Free PMC article.
1,222 results