Eto K - Search Results

1

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Yanagishita T, Eto K, Yamamoto-Shimojima K, Segawa O, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Nagata S, Yamamoto T. Yanagishita T, et al. Among authors: eto k. Hum Genome Var. 2021 May 6;8(1):16. doi: 10.1038/s41439-021-00148-8. Hum Genome Var. 2021. PMID: 33958584 Free PMC article.

2

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.

Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T. Eto K, et al. Am J Med Genet A. 2013 Dec;161A(12):3049-56. doi: 10.1002/ajmg.a.36156. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039031

3

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Shimada S, Oguni H, Otani Y, Nishikawa A, Ito S, Eto K, Nakazawa T, Yamamoto-Shimojima K, Takanashi JI, Nagata S, Yamamoto T. Shimada S, et al. Among authors: eto k. Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29. Brain Dev. 2018. PMID: 29858110

4

Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG.

Yanagishita T, Ito S, Ohtani Y, Eto K, Kanbayashi T, Oguni H, Nagata S. Yanagishita T, et al. Among authors: eto k. Brain Dev. 2018 Nov;40(10):939-942. doi: 10.1016/j.braindev.2018.05.015. Epub 2018 Jun 7. Brain Dev. 2018. PMID: 29885874

5

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.

Suzuki Y, Ito S, Otani Y, Nishikawa A, Eto K, Hara K, Oguni H, Nagata S. Suzuki Y, et al. Among authors: eto k. Brain Dev. 2021 May;43(5):657-660. doi: 10.1016/j.braindev.2021.01.001. Epub 2021 Feb 3. Brain Dev. 2021. PMID: 33549404

6

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T. Eto K, et al. Hum Genome Var. 2022 Dec 5;9(1):43. doi: 10.1038/s41439-022-00220-x. Hum Genome Var. 2022. PMID: 36470856 Free PMC article.

7

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.

Eto K, Itagaki R, Takamura A, Eto Y, Nagata S. Eto K, et al. Among authors: eto y. Mol Genet Metab Rep. 2023 Nov 8;37:101019. doi: 10.1016/j.ymgmr.2023.101019. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053925 Free PMC article.

8

Role of dual leucine zipper-bearing kinase (DLK/MUK/ZPK) in axonal growth.

Eto K, Kawauchi T, Osawa M, Tabata H, Nakajima K. Eto K, et al. Neurosci Res. 2010 Jan;66(1):37-45. doi: 10.1016/j.neures.2009.09.1708. Epub 2009 Oct 4. Neurosci Res. 2010. PMID: 19808064

9

[A child with paroxysmal exertion-induced dyskinesia].

Sato T, Ito Y, Oguni H, Eto K, Fujii A, Osawa M. Sato T, et al. Among authors: eto k. No To Hattatsu. 2012 May;44(3):244-8. No To Hattatsu. 2012. PMID: 22712229 Japanese.

10

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y. Hossain MA, et al. Among authors: eto y, eto k. Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/j.ymgme.2017.01.002. Epub 2017 Jan 7. Mol Genet Metab. 2017. PMID: 28087245

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