Sakai Y - Search Results

1

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. Among authors: sakai y. J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763878

2

Founder effect of the C9 R95X mutation in Orientals.

Khajoee V, Ihara K, Kira R, Takemoto M, Torisu H, Sakai Y, Guanjun J, Hee PM, Tokunaga K, Hara T. Khajoee V, et al. Among authors: sakai y. Hum Genet. 2003 Mar;112(3):244-8. doi: 10.1007/s00439-002-0870-8. Epub 2003 Jan 9. Hum Genet. 2003. PMID: 12596049

3

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis.

Ishizaki Y, Yukaya N, Kusuhara K, Kira R, Torisu H, Ihara K, Sakai Y, Sanefuji M, Pipo-Deveza JR, Silao CL, Sanchez BC, Lukban MB, Salonga AM, Hara T. Ishizaki Y, et al. Among authors: sakai y. Hum Genet. 2010 Apr;127(4):411-9. doi: 10.1007/s00439-009-0781-z. Hum Genet. 2010. PMID: 20066438

4

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Schaaf CP, et al. Among authors: sakai y. Hum Mol Genet. 2011 Sep 1;20(17):3366-75. doi: 10.1093/hmg/ddr243. Epub 2011 May 30. Hum Mol Genet. 2011. PMID: 21624971 Free PMC article.

5

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

6

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.

Chong PF, Haraguchi K, Torio M, Kirino M, Ogata R, Matsukura M, Sakai Y, Ishizaki Y, Yamamoto T, Kira R. Chong PF, et al. Among authors: sakai y. Brain Dev. 2015 Jan;37(1):171-4. doi: 10.1016/j.braindev.2014.02.007. Epub 2014 Mar 17. Brain Dev. 2015. PMID: 24650581

7

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy.

Isobe N, Sakai Y, Kira R, Sanefuji M, Ishizaki Y, Sakata A, Sasazuki M, Torio M, Akamine S, Torisu H, Hara T. Isobe N, et al. Among authors: sakai y. Clin EEG Neurosci. 2016 Oct;47(4):317-323. doi: 10.1177/1550059415579767. Epub 2015 Mar 30. Clin EEG Neurosci. 2016. PMID: 25828483

8

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: sakai y. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.

9

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.

10

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. Among authors: sakai y. J Hum Genet. 2016 May;61(5):381-7. doi: 10.1038/jhg.2016.1. Epub 2016 Jan 28. J Hum Genet. 2016. PMID: 26818738 Review.

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