Miya F - Search Results

1

Two cases of DYNC1H1 mutations with intractable epilepsy.

Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. Matsumoto A, et al. Among authors: miya f. Brain Dev. 2021 Sep;43(8):857-862. doi: 10.1016/j.braindev.2021.05.005. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092403

2

Time-dependent cell-state selection identifies transiently expressed genes regulating ILC2 activation.

Tanaka Y, Yamagishi M, Motomura Y, Kamatani T, Oguchi Y, Suzuki N, Kiniwa T, Kabata H, Irie M, Tsunoda T, Miya F, Goda K, Ohara O, Funatsu T, Fukunaga K, Moro K, Uemura S, Shirasaki Y. Tanaka Y, et al. Among authors: miya f. Commun Biol. 2023 Sep 6;6(1):915. doi: 10.1038/s42003-023-05297-w. Commun Biol. 2023. PMID: 37673922 Free PMC article.

3

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.

Yoshihama K, Mutai H, Sekimizu M, Ito F, Saito S, Nakamura S, Mikoshiba T, Nagai R, Takebayashi A, Miya F, Kosaki K, Ozawa H, Matsunaga T. Yoshihama K, et al. Among authors: miya f. Clin Genet. 2023 Apr;103(4):466-471. doi: 10.1111/cge.14294. Epub 2023 Jan 14. Clin Genet. 2023. PMID: 36597280

4

KIF1A mutation in a patient with progressive neurodegeneration.

Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: miya f. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658

5

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M. Harada A, et al. Among authors: miya f. Childs Nerv Syst. 2015 Mar;31(3):465-71. doi: 10.1007/s00381-014-2589-y. Epub 2014 Nov 22. Childs Nerv Syst. 2015. PMID: 25416470

6

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M. Nakamura K, et al. Among authors: miya f. Pediatr Neurol. 2015 May;52(5):e7-8. doi: 10.1016/j.pediatrneurol.2015.01.019. Epub 2015 Feb 7. Pediatr Neurol. 2015. PMID: 25765464 No abstract available.

7

Late-onset epileptic spasms in a female patient with a CASK mutation.

Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H. Nakajiri T, et al. Among authors: miya f. Brain Dev. 2015 Oct;37(9):919-23. doi: 10.1016/j.braindev.2015.02.007. Epub 2015 Mar 9. Brain Dev. 2015. PMID: 25765806 Review.

8

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.

Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kosaki K, Kanemura Y, Tsunoda T. Miya F, et al. Sci Rep. 2015 Mar 19;5:9331. doi: 10.1038/srep09331. Sci Rep. 2015. PMID: 25786579 Free PMC article.

9

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.

Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. Yokoi S, et al. Among authors: miya f. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. Sci Rep. 2015. PMID: 26493046 Free PMC article.

10

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T. Nozaki F, et al. Among authors: miya f. Brain Dev. 2016 Aug;38(7):678-84. doi: 10.1016/j.braindev.2016.01.003. Epub 2016 Jan 29. Brain Dev. 2016. PMID: 26829900

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