Aoki Y - Search Results

1

A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.

Watanabe Y, Yano S, Niihori T, Aoki Y, Matsubara Y, Yoshino M, Matsuishi T. Watanabe Y, et al. Among authors: aoki y. Brain Dev. 2011 Aug;33(7):576-9. doi: 10.1016/j.braindev.2010.10.006. Epub 2010 Nov 18. Brain Dev. 2011. PMID: 21093184

2

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson KM, Kure S, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: aoki y. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

3

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y. Kure S, et al. Among authors: aoki y. J Hum Genet. 2001;46(7):378-84. doi: 10.1007/s100380170057. J Hum Genet. 2001. PMID: 11450847

4

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

Aoki Y, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y. Aoki Y, et al. Neurosci Lett. 2001 Oct 19;312(2):71-4. doi: 10.1016/s0304-3940(01)02139-5. Neurosci Lett. 2001. PMID: 11595337

5

Structure and expression of the glycine cleavage system in rat central nervous system.

Sakata Y, Owada Y, Sato K, Kojima K, Hisanaga K, Shinka T, Suzuki Y, Aoki Y, Satoh J, Kondo H, Matsubara Y, Kure S. Sakata Y, et al. Among authors: aoki y. Brain Res Mol Brain Res. 2001 Oct 19;94(1-2):119-30. doi: 10.1016/s0169-328x(01)00225-x. Brain Res Mol Brain Res. 2001. PMID: 11597772

6

Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population.

Kanno K, Suzuki Y, Yang X, Yamada A, Aoki Y, Kure S, Matsubara Y. Kanno K, et al. Among authors: aoki y. J Hum Genet. 2002;47(6):269-74. doi: 10.1007/s100380200038. J Hum Genet. 2002. PMID: 12111375

7

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y. Kure S, et al. Among authors: aoki y. Ann Neurol. 2002 Nov;52(5):643-6. doi: 10.1002/ana.10367. Ann Neurol. 2002. PMID: 12402263

8

Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene.

Kure S, Aoki Y, Shinka T, Sakata Y, Matsubara Y, Narisawa K. Kure S, et al. Among authors: aoki y. Jpn J Hum Genet. 1997 Sep;42(3):429-31. doi: 10.1007/BF02766944. Jpn J Hum Genet. 1997. PMID: 12503190 No abstract available.

9

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

Kondoh T, Ishii E, Aoki Y, Shimizu T, Zaitsu M, Matsubara Y, Moriuchi H. Kondoh T, et al. Among authors: aoki y. Eur J Pediatr. 2003 Jul;162(7-8):548-549. doi: 10.1007/s00431-003-1227-6. Epub 2003 May 9. Eur J Pediatr. 2003. PMID: 12739139 No abstract available.

10

Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

Kayano S, Kure S, Suzuki Y, Kanno K, Aoki Y, Kondo S, Schutte BC, Murray JC, Yamada A, Matsubara Y. Kayano S, et al. Among authors: aoki y. J Hum Genet. 2003;48(12):622-628. doi: 10.1007/s10038-003-0089-0. Epub 2003 Nov 15. J Hum Genet. 2003. PMID: 14618417

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