Goto Y - Search Results

1

Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.

Hiromoto K, Yamada T, Tsuchiya M, Kawame H, Nanba E, Goto Y, Kosugi S. Hiromoto K, et al. Among authors: goto y. J Hum Genet. 2023 Jan;68(1):1-9. doi: 10.1038/s10038-022-01084-3. Epub 2022 Oct 3. J Hum Genet. 2023. PMID: 36192516

2

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium; Mizusawa H. Takahashi Y, et al. J Hum Genet. 2022 Sep;67(9):505-513. doi: 10.1038/s10038-022-01025-0. Epub 2022 Mar 23. J Hum Genet. 2022. PMID: 35318459 Free PMC article.

3

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I. Okubo M, et al. Among authors: goto y, goto k. J Hum Genet. 2016 Jun;61(6):483-9. doi: 10.1038/jhg.2016.7. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911353 Free PMC article.

4

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. Among authors: goto yi. J Hum Genet. 2021 Apr;66(4):419-429. doi: 10.1038/s10038-020-00855-0. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040085

5

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

Honda S, Hayashi S, Imoto I, Toyama J, Okazawa H, Nakagawa E, Goto Y, Inazawa J. Honda S, et al. Among authors: goto y. J Hum Genet. 2010 Sep;55(9):590-9. doi: 10.1038/jhg.2010.74. Epub 2010 Jul 8. J Hum Genet. 2010. PMID: 20613765

6

Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. Among authors: goto yi. J Hum Genet. 2021 Apr;66(4):449-450. doi: 10.1038/s10038-020-00867-w. J Hum Genet. 2021. PMID: 33184460 No abstract available.

7

Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming.

Yokota M, Hatakeyama H, Okabe S, Ono Y, Goto Y. Yokota M, et al. Among authors: goto y. Hum Mol Genet. 2015 Aug 15;24(16):4698-709. doi: 10.1093/hmg/ddv201. Epub 2015 May 29. Hum Mol Genet. 2015. PMID: 26025377

8

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

Honda S, Orii KO, Kobayashi J, Hayashi S, Imamura A, Imoto I, Nakagawa E, Goto Y, Inazawa J. Honda S, et al. Among authors: goto y. J Hum Genet. 2010 Apr;55(4):244-7. doi: 10.1038/jhg.2010.14. Epub 2010 Mar 26. J Hum Genet. 2010. PMID: 20339384

9

Synthesis and biological evaluation of CX-659S and its related compounds for their inhibitory effects on the delayed-type hypersensitivity reaction.

Tobe M, Isobe Y, Goto Y, Obara F, Tsuchiya M, Matsui J, Hirota K, Hayashi H. Tobe M, et al. Among authors: goto y. Bioorg Med Chem. 2000 Aug;8(8):2037-47. doi: 10.1016/s0968-0896(00)00126-7. Bioorg Med Chem. 2000. PMID: 11003148

10

Effect of vitamin E deficiency on inhibition of liver regeneration by long-term administration of alcohol.

Tanaka T, Goto Y, Imano M, Asai H, Yamada T, Kawai S, Kunitoh S, Kondo K, Yamashita T, Monna T, Nishiguchi S, Kuroki T, Otani S. Tanaka T, et al. Among authors: goto y. Alcohol Clin Exp Res. 1996 Feb;20(1 Suppl):47A-50A. doi: 10.1111/j.1530-0277.1996.tb01728.x. Alcohol Clin Exp Res. 1996. PMID: 8659689

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