Mikami H - Search Results

1

SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.

Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M. Igarashi M, et al. Among authors: mikami h. Sex Dev. 2015;9(3):125-9. doi: 10.1159/000377653. Epub 2015 Mar 17. Sex Dev. 2015. PMID: 25791725

2

Arrhythmia risk and β-blocker therapy in pregnant women with long QT syndrome.

Ishibashi K, Aiba T, Kamiya C, Miyazaki A, Sakaguchi H, Wada M, Nakajima I, Miyamoto K, Okamura H, Noda T, Yamauchi T, Itoh H, Ohno S, Motomura H, Ogawa Y, Goto H, Minami T, Yagihara N, Watanabe H, Hasegawa K, Terasawa A, Mikami H, Ogino K, Nakano Y, Imashiro S, Fukushima Y, Tsuzuki Y, Asakura K, Yoshimatsu J, Shiraishi I, Kamakura S, Miyamoto Y, Yasuda S, Akasaka T, Horie M, Shimizu W, Kusano K. Ishibashi K, et al. Among authors: mikami h. Heart. 2017 Sep;103(17):1374-1379. doi: 10.1136/heartjnl-2016-310617. Epub 2017 Mar 14. Heart. 2017. PMID: 28292826

3

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: mikami h. Hum Mol Genet. 1994 Jun;3(6):867-72. doi: 10.1093/hmg/3.6.867. Hum Mol Genet. 1994. PMID: 7951229

4

Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia.

Soda H, Ohura T, Yoshida I, Aramaki S, Aoki K, Inokuchi T, Mikami H, Narisawa K. Soda H, et al. Among authors: mikami h. J Inherit Metab Dis. 1995;18(3):295-8. doi: 10.1007/BF00710418. J Inherit Metab Dis. 1995. PMID: 7474895

5

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.

Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G. Shoji Y, et al. Among authors: mikami h. Hum Mutat. 2002 Nov;20(5):375-81. doi: 10.1002/humu.10140. Hum Mutat. 2002. PMID: 12402335

6

Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.

Mikami H, Matsubara Y, Hayasaka K, Narisawa K, Obinata M, Watanabe A, Haginoya K, Miyabayashi S, Tada K, Dahl HH. Mikami H, et al. J Inherit Metab Dis. 1990;13(5):787-91. doi: 10.1007/BF01799589. J Inherit Metab Dis. 1990. PMID: 2174091 No abstract available.

7

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K. Mikami H, et al. J Hum Genet. 1999;44(1):35-9. doi: 10.1007/s100380050103. J Hum Genet. 1999. PMID: 9929975

8

Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.

Sumi S, Matsuura T, Kidouchi K, Togari H, Kubota M, Kitou O, Mikami H, Ohura T, Matsuda I, Wada Y. Sumi S, et al. Among authors: mikami h. Int J Mol Med. 2000 Aug;6(2):177-80. doi: 10.3892/ijmm.6.2.177. Int J Mol Med. 2000. PMID: 10891562

9

Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

Kikawa Y, Inuzuka M, Jin BY, Kaji S, Yamamoto Y, Shigematsu Y, Nakai A, Taketo A, Ohura T, Mikami H, et al. Kikawa Y, et al. Among authors: mikami h. Biochem Biophys Res Commun. 1995 May 25;210(3):797-804. doi: 10.1006/bbrc.1995.1729. Biochem Biophys Res Commun. 1995. PMID: 7763253

10

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: mikami h. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

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