Kaname T - Search Results

1

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.

Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: kaname t. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.

2

Le(X) structure enhances myocardial differentiation from embryonic stem cells.

Sudou A, Muramatsu H, Kaname T, Kadomatsu K, Muramatsu T. Sudou A, et al. Among authors: kaname t. Cell Struct Funct. 1997 Apr;22(2):247-51. doi: 10.1247/csf.22.247. Cell Struct Funct. 1997. PMID: 9195050 Free article.

3

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M. Suzumori N, et al. Among authors: kaname t. J Obstet Gynaecol Res. 2013 Nov;39(11):1545-7. doi: 10.1111/jog.12081. Epub 2013 Jul 2. J Obstet Gynaecol Res. 2013. PMID: 23815237

4

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Yamamoto-Shimojima K, et al. Among authors: kaname t. J Hum Genet. 2019 Jul;64(7):665-671. doi: 10.1038/s10038-019-0600-x. Epub 2019 Apr 19. J Hum Genet. 2019. PMID: 31004103

5

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.

Kawaguchi M, Sassa T, Kidokoro H, Nakata T, Kato K, Muramatsu H, Okuno Y, Yamamoto H, Kaname T, Kihara A, Natsume J. Kawaguchi M, et al. Among authors: kaname t. Brain Dev. 2020 Feb;42(2):217-221. doi: 10.1016/j.braindev.2019.11.006. Epub 2019 Dec 16. Brain Dev. 2020. PMID: 31837835

6

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum.

Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, Muramatsu H, Okuno Y, Hattori A, Kaname T, Takahashi Y, Saitoh S. Yamaguchi N, et al. Among authors: kaname t. Brain Dev. 2020 Mar;42(3):298-301. doi: 10.1016/j.braindev.2019.12.003. Epub 2019 Dec 31. Brain Dev. 2020. PMID: 31899079

7

A case report of rare ZC4H2-associated disorders associated with three large hernias.

Nagara S, Fukaya S, Muramatsu Y, Kaname T, Tanaka T. Nagara S, et al. Among authors: kaname t. Pediatr Int. 2020 Aug;62(8):985-986. doi: 10.1111/ped.14211. Epub 2020 Jul 20. Pediatr Int. 2020. PMID: 32686882 No abstract available.

8

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.

Nishio Y, Kidokoro H, Takeo T, Narita H, Sawamura F, Narita K, Kawano Y, Nakata T, Muramatsu H, Hara S, Kaname T, Natsume J. Nishio Y, et al. Among authors: kaname t. Brain Dev. 2021 Mar;43(3):459-463. doi: 10.1016/j.braindev.2020.11.007. Epub 2020 Nov 30. Brain Dev. 2021. PMID: 33272775

9

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N. Ueda K, et al. Among authors: kaname t. Am J Med Genet A. 2021 Oct;185(10):3092-3098. doi: 10.1002/ajmg.a.62371. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34042275

10

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K. Okamoto N, et al. Among authors: kaname t. Neurol Sci. 2022 Apr;43(4):2765-2774. doi: 10.1007/s10072-021-05626-z. Epub 2021 Sep 28. Neurol Sci. 2022. PMID: 34585293

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