Kato M - Search Results

1

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: kato m. 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

2

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: kato m. Am J Med Genet. 1998 Dec 4;80(4):327-9. Am J Med Genet. 1998. PMID: 9856558

3

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. Hum Genet. 1999 Apr;104(4):341-4. doi: 10.1007/s004390050963. Hum Genet. 1999. PMID: 10369164

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: kato m. 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

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: kato m. J Hum Genet. 1999;44(6):412-3. doi: 10.1007/s100380050189. J Hum Genet. 1999. PMID: 10570915

6

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: kato m. Clin Genet. 2014 Apr;85(4):396-8. doi: 10.1111/cge.12188. Epub 2013 Jun 10. Clin Genet. 2014. PMID: 23745724 No abstract available.

7

Brainstem lesion in Aicardi-Goutières syndrome.

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

8

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.

Kato M, Kanai M, Soma O, Takusa Y, Kimura T, Numakura C, Matsuki T, Nakamura S, Hayasaka K. Kato M, et al. Ann Neurol. 2001 Oct;50(4):547-51. doi: 10.1002/ana.1231. Ann Neurol. 2001. PMID: 11601509

9

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. Ann Neurol. 2000 Apr;47(4):514-6. Ann Neurol. 2000. PMID: 10762164

10

Multiple sulphatase deficiency and haemophagocytic syndrome.

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

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