Aoki Y - Search Results

1

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan. Abe Y, et al. Among authors: aoki y. Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495831

2

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

Suzuki Y, Aoki Y, Ishida Y, Chiba Y, Iwamatsu A, Kishino T, Niikawa N, Matsubara Y, Narisawa K. Suzuki Y, et al. Among authors: aoki y. Nat Genet. 1994 Oct;8(2):122-8. doi: 10.1038/ng1094-122. Nat Genet. 1994. PMID: 7842009

3

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Wataya K, et al. Among authors: aoki y. Hum Mutat. 1998;11(5):377-86. doi: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9600456

4

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K. Takahashi K, et al. Among authors: aoki y. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

5

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

6

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

7

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

8

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

9

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: aoki y. Hum Genet. 2001 Nov;109(5):526-34. doi: 10.1007/s004390100603. Epub 2001 Oct 5. Hum Genet. 2001. PMID: 11735028

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

3,452 results

Search Page