Kishikawa Y - Search Results

1

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K. Abe A, et al. Among authors: kishikawa y. J Hum Genet. 2010 Nov;55(11):771-3. doi: 10.1038/jhg.2010.106. Epub 2010 Aug 26. J Hum Genet. 2010. PMID: 20739940

2

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K. Abe A, et al. Among authors: kishikawa y. J Hum Genet. 2009 Feb;54(2):94-7. doi: 10.1038/jhg.2008.13. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158810

3

Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K. Hayashi M, et al. Among authors: kishikawa y. J Hum Genet. 2013 May;58(5):273-8. doi: 10.1038/jhg.2013.15. Epub 2013 Mar 7. J Hum Genet. 2013. PMID: 23466821

4

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.

Meguro T, Yoshida Y, Hayashi M, Toyota K, Otagiri T, Mochizuki N, Kishikawa Y, Sasaki A, Hayasaka K. Meguro T, et al. Among authors: kishikawa y. J Hum Genet. 2012 May;57(5):335-7. doi: 10.1038/jhg.2012.27. Epub 2012 Mar 22. J Hum Genet. 2012. PMID: 22437207

5

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K. Shimokaze T, et al. Among authors: kishikawa y. J Hum Genet. 2015 Sep;60(9):473-7. doi: 10.1038/jhg.2015.65. Epub 2015 Jun 11. J Hum Genet. 2015. PMID: 26063465

6

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Sasaki A, Kishikawa Y, Imaji R, Fukushima Y, Nakamura Y, Nishimura Y, Yamada M, Mino Y, Mitsui T, Hayasaka K. Sasaki A, et al. Among authors: kishikawa y. Pediatr Int. 2019 Apr;61(4):393-396. doi: 10.1111/ped.13812. Epub 2019 Apr 17. Pediatr Int. 2019. PMID: 30786110

7

Radical trifluoromethoxylation of fluorinated alkenes for accessing difluoro(trifluoromethoxy)methyl groups.

Kawai K, Usui M, Ikawa S, Hoshiya N, Kishikawa Y, Shibata N. Kawai K, et al. Among authors: kishikawa y. Chem Sci. 2025 Jan 13. doi: 10.1039/d4sc07788a. Online ahead of print. Chem Sci. 2025. PMID: 39811005 Free PMC article.

8

Synthesis of Ngai Reagent and Longer Carbon Chain Variants for Perfluoroalkoxylations.

Kawai K, Ikawa S, Hoshiya N, Kishikawa Y, Shibata N. Kawai K, et al. Among authors: kishikawa y. Org Lett. 2024 Dec 20;26(50):11011-11016. doi: 10.1021/acs.orglett.4c04170. Epub 2024 Dec 5. Org Lett. 2024. PMID: 39636164

9

Effects of Flavanone Derivatives on Adipocyte Differentiation and Lipid Accumulation in 3T3-L1 Cells.

Nobushi Y, Wada T, Miura M, Onoda R, Ishiwata R, Oikawa N, Shigematsu K, Nakakita T, Toriyama M, Shimba S, Kishikawa Y. Nobushi Y, et al. Among authors: kishikawa y. Life (Basel). 2024 Nov 7;14(11):1446. doi: 10.3390/life14111446. Life (Basel). 2024. PMID: 39598244 Free PMC article.

10

Halo-perfluoroalkoxylation of gem-difluoroalkenes with short-lived alkali metal perfluoroalkoxides in triglyme.

Kawai K, Kato Y, Araki T, Ikawa S, Usui M, Hoshiya N, Kishikawa Y, Escorihuela J, Shibata N. Kawai K, et al. Among authors: kishikawa y. Chem Sci. 2024 May 22;15(25):9574-9581. doi: 10.1039/d4sc02084g. eCollection 2024 Jun 26. Chem Sci. 2024. PMID: 38939153 Free PMC article.

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