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The Tohoku Medical Megabank Project: Design and Mission.
Kuriyama S, Yaegashi N, Nagami F, Arai T, Kawaguchi Y, Osumi N, Sakaida M, Suzuki Y, Nakayama K, Hashizume H, Tamiya G, Kawame H, Suzuki K, Hozawa A, Nakaya N, Kikuya M, Metoki H, Tsuji I, Fuse N, Kiyomoto H, Sugawara J, Tsuboi A, Egawa S, Ito K, Chida K, Ishii T, Tomita H, Taki Y, Minegishi N, Ishii N, Yasuda J, Igarashi K, Shimizu R, Nagasaki M, Koshiba S, Kinoshita K, Ogishima S, Takai-Igarashi T, Tominaga T, Tanabe O, Ohuchi N, Shimosegawa T, Kure S, Tanaka H, Ito S, Hitomi J, Tanno K, Nakamura M, Ogasawara K, Kobayashi S, Sakata K, Satoh M, Shimizu A, Sasaki M, Endo R, Sobue K, Tohoku Medical Megabank Project Study Group T, Yamamoto M. Kuriyama S, et al. Among authors: kure s. J Epidemiol. 2016 Sep 5;26(9):493-511. doi: 10.2188/jea.JE20150268. Epub 2016 Jul 2. J Epidemiol. 2016. PMID: 27374138 Free PMC article.
Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y. Suzuki Y, et al. Among authors: kure s. Hum Mutat. 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204. Hum Mutat. 2005. PMID: 16134170 Review.
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: kure s. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170316
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: kure s. 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
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: kure s. 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
473 results