Shimbo H - Search Results

1

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.

2

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.

Shimbo H, Ninomiya S, Kurosawa K, Wada T. Shimbo H, et al. J Hum Genet. 2014 Jul;59(7):408-10. doi: 10.1038/jhg.2014.45. Epub 2014 Jun 5. J Hum Genet. 2014. PMID: 24898829

3

Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia.

Ueda A, Shimbo H, Yada Y, Koike Y, Yamagata T, Osaka H. Ueda A, et al. Among authors: shimbo h. Hum Genome Var. 2018 Mar 29;5:18013. doi: 10.1038/hgv.2018.13. eCollection 2018. Hum Genome Var. 2018. PMID: 29619238 Free PMC article.

4

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T. Ikeda T, et al. Among authors: shimbo h. Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018. Hum Genome Var. 2018. PMID: 30210801 Free PMC article.

5

MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA^Met gene.

Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H. Kuwajima M, et al. Among authors: shimbo h. Brain Dev. 2019 May;41(5):465-469. doi: 10.1016/j.braindev.2019.01.006. Epub 2019 Feb 7. Brain Dev. 2019. PMID: 30739820

6

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

7

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

8

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

9

Aggregate formation analysis of GFAP^R416W found in one case of Alexander disease.

Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H. Tulyeu J, et al. Among authors: shimbo h. Brain Dev. 2019 Feb;41(2):195-200. doi: 10.1016/j.braindev.2018.08.009. Epub 2018 Sep 10. Brain Dev. 2019. PMID: 30213442

10

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

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