Hayasaka K - Search Results

1

Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.

Kanno M, Suzuki M, Tanikawa K, Numakura C, Matsuzawa SI, Niihori T, Aoki Y, Matsubara Y, Makino S, Tamiya G, Nakano S, Funayama R, Shirota M, Nakayama K, Mitsui T, Hayasaka K. Kanno M, et al. Among authors: hayasaka k. J Hum Genet. 2022 Jul;67(7):393-397. doi: 10.1038/s10038-022-01017-0. Epub 2022 Jan 28. J Hum Genet. 2022. PMID: 35087201

2

Phenotypic variability in a family with Townes-Brocks syndrome.

Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K. Sudo Y, et al. Among authors: hayasaka k. J Hum Genet. 2010 Aug;55(8):550-1. doi: 10.1038/jhg.2010.64. Epub 2010 Jun 3. J Hum Genet. 2010. PMID: 20520617

3

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Abe A, Numakura C, Kijima K, Hayashi M, Hashimoto T, Hayasaka K. Abe A, et al. Among authors: hayasaka k. J Hum Genet. 2011 May;56(5):364-8. doi: 10.1038/jhg.2011.20. Epub 2011 Feb 17. J Hum Genet. 2011. PMID: 21326314

4

Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding.

Sato H, Uchida T, Toyota K, Kanno M, Hashimoto T, Watanabe M, Nakamura T, Tamiya G, Aoki K, Hayasaka K. Sato H, et al. Among authors: hayasaka k. J Hum Genet. 2013 Jan;58(1):7-10. doi: 10.1038/jhg.2012.116. Epub 2012 Sep 27. J Hum Genet. 2013. PMID: 23014115

5

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K. Tamiya G, et al. Among authors: hayasaka k. Am J Hum Genet. 2014 Sep 4;95(3):294-300. doi: 10.1016/j.ajhg.2014.07.013. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152455 Free PMC article.

6

Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms.

Sato H, Uchida T, Toyota K, Nakamura T, Tamiya G, Kanno M, Hashimoto T, Watanabe M, Aoki K, Hayasaka K. Sato H, et al. Among authors: hayasaka k. J Hum Genet. 2015 Jan;60(1):35-40. doi: 10.1038/jhg.2014.98. Epub 2014 Nov 13. J Hum Genet. 2015. PMID: 25391605

7

Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.

Ogino D, Hashimoto T, Hattori M, Sugawara N, Akioka Y, Tamiya G, Makino S, Toyota K, Mitsui T, Hayasaka K. Ogino D, et al. Among authors: hayasaka k. J Hum Genet. 2016 Feb;61(2):137-41. doi: 10.1038/jhg.2015.122. Epub 2015 Oct 15. J Hum Genet. 2016. PMID: 26467726

8

Adult-onset type II citrullinemia: Current insights and therapy.

Hayasaka K, Numakura C. Hayasaka K, et al. Appl Clin Genet. 2018 Dec 12;11:163-170. doi: 10.2147/TACG.S162084. eCollection 2018. Appl Clin Genet. 2018. PMID: 30588060 Free PMC article. Review.

9

ALOX12 mutation in a family with dominantly inherited bleeding diathesis.

Mitsui T, Makino S, Tamiya G, Sato H, Kawakami Y, Takahashi Y, Meguro T, Izumino H, Sudo Y, Norota I, Ishii K, Hayasaka K. Mitsui T, et al. Among authors: hayasaka k. J Hum Genet. 2021 Aug;66(8):753-759. doi: 10.1038/s10038-020-00887-6. Epub 2021 Feb 10. J Hum Genet. 2021. PMID: 33564083

10

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K. Numakura C, et al. Among authors: hayasaka k. Hum Mutat. 2002 Nov;20(5):392-8. doi: 10.1002/humu.10134. Hum Mutat. 2002. PMID: 12402337

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