Jimbo EF - 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: jimbo ef. 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

MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.

Saito M, Yamagata T, Matsumoto A, Shiba Y, Nagashima M, Taniguchi S, Jimbo E, Momoi MY. Saito M, et al. Brain Dev. 2014 Jan;36(1):64-9. doi: 10.1016/j.braindev.2013.01.004. Epub 2013 Feb 13. Brain Dev. 2014. PMID: 23414621

3

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.

Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo EF, Kubota T, Momoi MY, Yamagata T. Matsumoto A, et al. Among authors: jimbo ef. J Hum Genet. 2013 Nov;58(11):755-7. doi: 10.1038/jhg.2013.88. Epub 2013 Aug 29. J Hum Genet. 2013. PMID: 23985797

4

LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.

Matsumoto A, Mizuno M, Hamada N, Nozaki Y, Jimbo EF, Momoi MY, Nagata K, Yamagata T. Matsumoto A, et al. Among authors: jimbo ef. PLoS One. 2014 Mar 21;9(3):e92695. doi: 10.1371/journal.pone.0092695. eCollection 2014. PLoS One. 2014. PMID: 24658322 Free PMC article.

5

Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.

Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi MY, Tabata H, Yamagata T, Nagata K. Mizuno M, et al. Among authors: jimbo ef. J Neurochem. 2015 Jan;132(1):61-9. doi: 10.1111/jnc.12943. Epub 2014 Sep 26. J Neurochem. 2015. PMID: 25196215 Free article.

6

Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.

Yang Z, Matsumoto A, Nakayama K, Jimbo EF, Kojima K, Nagata K, Iwamoto S, Yamagata T. Yang Z, et al. Among authors: jimbo ef. Brain Dev. 2016 Jan;38(1):91-9. doi: 10.1016/j.braindev.2015.04.006. Epub 2015 May 6. Brain Dev. 2016. PMID: 25957987

7

Mutational and functional analysis of Glucose transporter I deficiency syndrome.

Nakamura S, Osaka H, Muramatsu S, Aoki S, Jimbo EF, Yamagata T. Nakamura S, et al. Among authors: jimbo ef. Mol Genet Metab. 2015 Nov;116(3):157-62. doi: 10.1016/j.ymgme.2015.08.006. Epub 2015 Aug 14. Mol Genet Metab. 2015. PMID: 26304067

8

6q21-22 deletion syndrome with interrupted aortic arch.

Matsumoto A, Nozaki Y, Minami T, Jimbo EF, Shiraishi H, Yamagata T. Matsumoto A, et al. Among authors: jimbo ef. Hum Genome Var. 2015 Jun 11;2:15015. doi: 10.1038/hgv.2015.15. eCollection 2015. Hum Genome Var. 2015. PMID: 27081529 Free PMC article.

9

Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.

Inaguma Y, Matsumoto A, Noda M, Tabata H, Maeda A, Goto M, Usui D, Jimbo EF, Kikkawa K, Ohtsuki M, Momoi MY, Osaka H, Yamagata T, Nagata KI. Inaguma Y, et al. Among authors: jimbo ef. J Neurochem. 2016 Oct;139(2):245-255. doi: 10.1111/jnc.13832. Epub 2016 Sep 19. J Neurochem. 2016. PMID: 27607605 Free article.

10

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.

Nakamura S, Osaka H, Muramatsu SI, Takino N, Ito M, Aoki S, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T. Nakamura S, et al. Among authors: jimbo ef. Mol Genet Metab Rep. 2017 Jan 15;10:67-74. doi: 10.1016/j.ymgmr.2016.12.008. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28119822 Free PMC article.

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