Sakai Y - Search Results

1

Late-Onset Circulatory Collapse and Risk of Cerebral Palsy in Extremely Preterm Infants.

Yasuoka K, Inoue H, Egami N, Ochiai M, Tanaka K, Sawano T, Kurata H, Ichiyama M, Fujiyoshi J, Matsushita Y, Sakai Y, Ohga S; Neonatal Research Network of Japan. Yasuoka K, et al. Among authors: sakai y. J Pediatr. 2019 Sep;212:117-123.e4. doi: 10.1016/j.jpeds.2019.05.033. Epub 2019 Jun 20. J Pediatr. 2019. PMID: 31229321 Free article.

2

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. 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

3

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T. Uike K, et al. Among authors: sakai y. BMC Res Notes. 2013 Nov 12;6:456. doi: 10.1186/1756-0500-6-456. BMC Res Notes. 2013. PMID: 24220024 Free PMC article.

4

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. BMC Med Genomics. 2014 Apr 22;7:19. doi: 10.1186/1755-8794-7-19. BMC Med Genomics. 2014. PMID: 24755370 Free PMC article.

5

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells.

Ohkubo K, Sakai Y, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, Sanefuji M, Torisu H, Ihara K, Sardiello M, Hara T. Ohkubo K, et al. Among authors: sakai y. Sci Rep. 2015 Aug 17;5:13191. doi: 10.1038/srep13191. Sci Rep. 2015. PMID: 26278786 Free PMC article.

6

Activation of Nod1 Signaling Induces Fetal Growth Restriction and Death through Fetal and Maternal Vasculopathy.

Inoue H, Nishio H, Takada H, Sakai Y, Nanishi E, Ochiai M, Onimaru M, Chen SJ, Matsui T, Hara T. Inoue H, et al. Among authors: sakai y. J Immunol. 2016 Mar 15;196(6):2779-87. doi: 10.4049/jimmunol.1500295. Epub 2016 Feb 15. J Immunol. 2016. PMID: 26880761 Free PMC article.

7

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.

Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T. Matsushita Y, et al. Among authors: sakai y. Sci Rep. 2016 Mar 10;6:22991. doi: 10.1038/srep22991. Sci Rep. 2016. PMID: 26961412 Free PMC article.

8

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. Ann Hum Genet. 2016 Jul;80(4):235-40. doi: 10.1111/ahg.12157. Ann Hum Genet. 2016. PMID: 27346735

9

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.

Lee S, Sanefuji M, Torio M, Kaku N, Ichimiya Y, Mizuguchi S, Baba H, Sakai Y, Ishizaki Y, Torisu H, Kira R, Hara T, Ohga S. Lee S, et al. Among authors: sakai y. J Neurol Sci. 2016 Nov 15;370:39-43. doi: 10.1016/j.jns.2016.09.018. Epub 2016 Sep 10. J Neurol Sci. 2016. PMID: 27772782

10

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.

Ichimiya Y, Kaku N, Sakai Y, Yamashita F, Matsuoka W, Muraoka M, Akamine S, Mizuguchi S, Torio M, Motomura Y, Hirata Y, Ishizaki Y, Sanefuji M, Torisu H, Takada H, Maehara Y, Ohga S. Ichimiya Y, et al. Among authors: sakai y. Brain Dev. 2017 Aug;39(7):621-624. doi: 10.1016/j.braindev.2017.03.023. Epub 2017 Apr 13. Brain Dev. 2017. PMID: 28413125

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