Matsubara Y - Search Results

1

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. Kamada F, et al. Among authors: matsubara y. J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4. J Hum Genet. 2011. PMID: 21048783

2

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: matsubara y. J Hum Genet. 2002;47(6):269-74. doi: 10.1007/s100380200038. J Hum Genet. 2002. PMID: 12111375

3

Linkage and association of childhood asthma with the chromosome 12 genes.

Shao C, Suzuki Y, Kamada F, Kanno K, Tamari M, Hasegawa K, Aoki Y, Kure S, Yang X, Endo H, Takayanagi R, Nakazawa C, Morikawa T, Morikawa M, Miyabayashi S, Chiba Y, Karahashi M, Saito S, Tamura G, Shirakawa T, Matsubara Y. Shao C, et al. Among authors: matsubara y. J Hum Genet. 2004;49(3):115-122. doi: 10.1007/s10038-003-0118-z. Epub 2004 Feb 7. J Hum Genet. 2004. PMID: 14767694

4

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population.

Kanno K, Suzuki Y, Yamada A, Aoki Y, Kure S, Matsubara Y. Kanno K, et al. Among authors: matsubara y. Am J Med Genet A. 2004 May 15;127A(1):11-16. doi: 10.1002/ajmg.a.20649. Am J Med Genet A. 2004. PMID: 15103710

5

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. Kamada F, et al. Among authors: matsubara y. J Hum Genet. 2006;51(5):455-460. doi: 10.1007/s10038-006-0384-7. Epub 2006 Apr 5. J Hum Genet. 2006. PMID: 16596322

6

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Narisawa A, et al. Among authors: matsubara y. Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13. Hum Mol Genet. 2012. PMID: 22171071 Free PMC article.

7

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

8

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.

9

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.

Kudo T, Kure S, Ikeda K, Xia AP, Katori Y, Suzuki M, Kojima K, Ichinohe A, Suzuki Y, Aoki Y, Kobayashi T, Matsubara Y. Kudo T, et al. Among authors: matsubara y. Hum Mol Genet. 2003 May 1;12(9):995-1004. doi: 10.1093/hmg/ddg116. Hum Mol Genet. 2003. PMID: 12700168

10

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.

Matsubara Y, Kure S. Matsubara Y, et al. Hum Mutat. 2003 Aug;22(2):166-72. doi: 10.1002/humu.10247. Hum Mutat. 2003. PMID: 12872258

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