Shimbo H - Search Results

1

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.

Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N. Tsurusaki Y, et al. Among authors: shimbo h. J Med Genet. 2011 Sep;48(9):606-9. doi: 10.1136/jmg.2010.083535. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415082

2

A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.

Usui H, Tsurusaki Y, Shimbo H, Saitsu H, Harada N, Kitagawa N, Mochizuki K, Masuda M, Kurosawa K, Shinkai M. Usui H, et al. Among authors: shimbo h. Surg Today. 2021 Mar;51(3):439-446. doi: 10.1007/s00595-020-02122-3. Epub 2020 Sep 2. Surg Today. 2021. PMID: 32876734

3

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K. Osaka H, et al. Among authors: shimbo h. Ann Neurol. 2010 Aug;68(2):250-4. doi: 10.1002/ana.22022. Ann Neurol. 2010. PMID: 20695017

4

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.

Wada T, Shimbo H, Osaka H. Wada T, et al. Among authors: shimbo h. Amino Acids. 2012 Aug;43(2):993-7. doi: 10.1007/s00726-011-1146-1. Epub 2011 Nov 13. Amino Acids. 2012. PMID: 22080216

5

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

Osaka H, Takagi A, Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H, Saitsu H, Salomons GS, Jakobs C, Aida N, Toshihiro S, Kuhara T, Matsumoto N. Osaka H, et al. Among authors: shimbo h. Mol Genet Metab. 2012 May;106(1):43-7. doi: 10.1016/j.ymgme.2012.02.018. Epub 2012 Mar 5. Mol Genet Metab. 2012. PMID: 22472424

6

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.

Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H. Kato H, et al. Among authors: shimbo h. Brain Dev. 2014 Aug;36(7):630-3. doi: 10.1016/j.braindev.2013.08.004. Epub 2013 Sep 14. Brain Dev. 2014. PMID: 24045174

7

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Akiyama T, Osaka H, Shimbo H, Kuhara T, Shibata T, Kobayashi K, Kurosawa K, Yoshinaga H. Akiyama T, et al. Among authors: shimbo h. Brain Dev. 2016 Oct;38(9):871-4. doi: 10.1016/j.braindev.2016.03.008. Epub 2016 Apr 4. Brain Dev. 2016. PMID: 27056292

8

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Shimbo H, Takagi M, Okuda M, Tsuyusaki Y, Takano K, Iai M, Yamashita S, Murayama K, Ohtake A, Goto YI, Aida N, Osaka H. Shimbo H, et al. Mol Genet Metab Rep. 2014 Apr 1;1:133-138. doi: 10.1016/j.ymgmr.2014.02.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896082 Free PMC article.

9

The ATRX splicing variant c.21-1G>A is asymptomatic.

Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. Kojima K, et al. Among authors: shimbo h. Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x. Hum Genome Var. 2022. PMID: 36104326 Free PMC article.

10

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia.

Tsuyusaki Y, Shimbo H, Wada T, Iai M, Tsuji M, Yamashita S, Aida N, Kure S, Osaka H. Tsuyusaki Y, et al. Among authors: shimbo h. Brain Dev. 2012 Jan;34(1):72-5. doi: 10.1016/j.braindev.2011.01.005. Epub 2011 Feb 12. Brain Dev. 2012. PMID: 21316884

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