Nagata S - Search Results

1

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.

Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T. Shimada S, et al. Among authors: nagata s. Brain Dev. 2015 May;37(5):515-26. doi: 10.1016/j.braindev.2014.08.002. Epub 2014 Aug 27. Brain Dev. 2015. PMID: 25172301

2

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: nagata s. 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

3

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Among authors: nagata s. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144

4

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Machida O, Shimojima KY, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T. Machida O, et al. Among authors: nagata s. Intractable Rare Dis Res. 2022 Aug;11(3):143-148. doi: 10.5582/irdr.2022.01065. Intractable Rare Dis Res. 2022. PMID: 36200032 Free PMC article.

5

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

Shimada S, Hirano Y, Ito S, Oguni H, Nagata S, Shimojima K, Yamamoto T. Shimada S, et al. Among authors: nagata s. Hum Genome Var. 2014 Dec 4;1:14027. doi: 10.1038/hgv.2014.27. eCollection 2014. Hum Genome Var. 2014. PMID: 27081515 Free PMC article.

6

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.

Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Yanagishita T, et al. Among authors: nagata s. Hum Mutat. 2020 Dec;41(12):2119-2127. doi: 10.1002/humu.24108. Epub 2020 Sep 19. Hum Mutat. 2020. PMID: 32906213

7

Cerebral Palsy and Intellectual Disability in the Children of Women With Chronic Kidney Disease.

Tsuchiyama F, Makino Y, Hirasawa K, Nagata S, Matsui H. Tsuchiyama F, et al. Among authors: nagata s. Pediatr Neurol. 2017 Aug;73:71-77. doi: 10.1016/j.pediatrneurol.2016.03.007. Epub 2016 Mar 25. Pediatr Neurol. 2017. PMID: 28673688

8

Secular trends in early motor development between 1980 and 2010 in Japan.

Yoshii K, Michihata N, Hirasawa K, Nagata S, Morisaki N. Yoshii K, et al. Among authors: nagata s. Arch Dis Child. 2022 May;107(5):468-473. doi: 10.1136/archdischild-2021-322087. Epub 2021 Nov 5. Arch Dis Child. 2022. PMID: 34740881

9

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T. Matsumaru S, et al. Among authors: nagata s. Intractable Rare Dis Res. 2017 May;6(2):132-136. doi: 10.5582/irdr.2017.01020. Intractable Rare Dis Res. 2017. PMID: 28580215 Free PMC article.

10

HECW2-related disorder in four Japanese patients.

Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: nagata s, nagata m. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014

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