Hayasaka K - Search Results

1

Prader-Willi syndrome in a child with XYY.

Honma A, Ishii R, Ito A, Kato M, Saitoh S, Hayasaka K. Honma A, et al. Among authors: hayasaka k. J Hum Genet. 1999;44(6):412-3. doi: 10.1007/s100380050189. J Hum Genet. 1999. PMID: 10570915

2

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.

3

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: hayasaka k. 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

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

Brainstem lesion in Aicardi-Goutières syndrome.

Kato M, Ishii R, Honma A, Ikeda H, Hayasaka K. Kato M, et al. Among authors: hayasaka k. Pediatr Neurol. 1998 Aug;19(2):145-7. doi: 10.1016/s0887-8994(98)00025-3. Pediatr Neurol. 1998. PMID: 9744637

6

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

Kato M, Kimura T, Lin C, Ito A, Kodama S, Morikawa T, Soga T, Hayasaka K. Kato M, et al. Among authors: hayasaka k. Hum Genet. 1999 Apr;104(4):341-4. doi: 10.1007/s004390050963. Hum Genet. 1999. PMID: 10369164

7

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

8

Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome?

Kato M, Takizawa N, Yamada S, Ito A, Honma T, Hashimoto M, Saito E, Ohta T, Chikaoka H, Hayasaka K. Kato M, et al. Among authors: hayasaka k. Ann Neurol. 1999 Oct;46(4):660-3. doi: 10.1002/1531-8249(199910)46:4<660::aid-ana17>3.0.co;2-q. Ann Neurol. 1999. PMID: 10514106

9

Multiple sulphatase deficiency and haemophagocytic syndrome.

Ikeda H, Kato M, Matsunaga A, Shimizu Y, Katsuura M, Hayasaka K. Ikeda H, et al. Among authors: hayasaka k. Eur J Pediatr. 1998 Jul;157(7):553-4. doi: 10.1007/s004310050876. Eur J Pediatr. 1998. PMID: 9686814

10

Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly.

Kato M, Nanba E, Akaboshi S, Shiihara T, Ito A, Honma T, Tsuburaya K, Hayasaka K. Kato M, et al. Among authors: hayasaka k. Ann Neurol. 2000 Apr;47(4):514-6. Ann Neurol. 2000. PMID: 10762164

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