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2,830 results
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Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. J Hum Genet. 2016. PMID: 26446362 Review.
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
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
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: aoki y. Hum Mol Genet. 2003 May 1;12(9):995-1004. doi: 10.1093/hmg/ddg116. Hum Mol Genet. 2003. PMID: 12700168
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.
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
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: aoki 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
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: aoki y. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y. Kojima K, et al. Among authors: aoki y. Mol Genet Metab. 2004 Apr;81(4):343-6. doi: 10.1016/j.ymgme.2003.12.004. Mol Genet Metab. 2004. PMID: 15059622
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Yang X, et al. Among authors: aoki y. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131
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