Hayasaka K - Search Results

1

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

Honda S, Hayashi S, Kato M, Niida Y, Hayasaka K, Okuyama T, Imoto I, Mizutani S, Inazawa J. Honda S, et al. Among authors: hayasaka k. Am J Med Genet A. 2007 Apr 1;143A(7):687-93. doi: 10.1002/ajmg.a.31638. Am J Med Genet A. 2007. PMID: 17343270

2

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.

Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N. Saitsu H, et al. Among authors: hayasaka k. Am J Med Genet A. 2011 Nov;155A(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990267

3

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.

Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, Yamaguchi S, Ohura T, Hayasaka K. Ikeda H, et al. Among authors: hayasaka k. Am J Med Genet. 1998 Dec 4;80(4):327-9. Am J Med Genet. 1998. PMID: 9856558

4

Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)].

Katsuura M, Kato M, Sendo D, Akiba K, Honma A, Takahashi Y, Numakura C, Yokoyama S, Nonaka I, Shibata T, Hayasaka K. Katsuura M, et al. Among authors: hayasaka k. Am J Med Genet. 1998 Feb 26;76(1):42-4. doi: 10.1002/(sici)1096-8628(19980226)76:1<42::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9508063

5

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. Kato M, et al. Among authors: hayasaka k. Am J Hum Genet. 2007 Aug;81(2):361-6. doi: 10.1086/518903. Epub 2007 Jun 11. Am J Hum Genet. 2007. PMID: 17668384 Free PMC article.

6

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: hayasaka k. Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469812

7

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: hayasaka k. Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18. Epilepsia. 2012. PMID: 22709267 Free article.

8

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

Ikegami T, Lin C, Kato M, Itoh A, Nonaka I, Kurimura M, Hirayabashi H, Shinohara Y, Mochizuki A, Hayasaka K. Ikegami T, et al. Among authors: hayasaka k. Am J Med Genet. 1998 Dec 4;80(4):352-5. doi: 10.1002/(sici)1096-8628(19981204)80:4<352::aid-ajmg9>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9856562

9

Costello syndrome showing moyamoya-like vasculopathy.

Shiihara T, Kato M, Mitsuhashi Y, Hayasaka K. Shiihara T, et al. Among authors: hayasaka k. Pediatr Neurol. 2005 May;32(5):361-3. doi: 10.1016/j.pediatrneurol.2004.12.010. Pediatr Neurol. 2005. PMID: 15866441

10

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: hayasaka k. 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

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