Matsubara Y - Search Results

1

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: matsubara y. Nat Genet. 1994 Oct;8(2):122-8. doi: 10.1038/ng1094-122. Nat Genet. 1994. PMID: 7842009

2

Mutations in the holocarboxylase synthetase gene HLCS.

Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y. Suzuki Y, et al. Among authors: matsubara y. Hum Mutat. 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204. Hum Mutat. 2005. PMID: 16134170 Review.

3

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: matsubara y. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

4

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: matsubara y. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

5

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: matsubara y. Hum Genet. 2001 Nov;109(5):526-34. doi: 10.1007/s004390100603. Epub 2001 Oct 5. Hum Genet. 2001. PMID: 11735028

6

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: matsubara y. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

7

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Aoki Y, et al. Among authors: matsubara y. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170316

8

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.

Ogasawara M, Matsubara Y, Mikami H, Narisawa K. Ogasawara M, et al. Among authors: matsubara y. Hum Mol Genet. 1994 Jun;3(6):867-72. doi: 10.1093/hmg/3.6.867. Hum Mol Genet. 1994. PMID: 7951229

9

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.

Ikeda H, Matsubara Y, Mikami H, Kure S, Owada M, Gough T, Smooker PM, Dobbs M, Dahl HH, Cotton RG, Narisawa K. Ikeda H, et al. Among authors: matsubara y. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

10

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K. Kure S, et al. Among authors: matsubara y. Hum Genet. 1998 Apr;102(4):430-4. doi: 10.1007/s004390050716. Hum Genet. 1998. PMID: 9600239

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,043 results

Search Page

Filters