Umezawa A - Search Results

1

Compilation of copy number variants identified in phenotypically normal and parous Japanese women.

Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K. Migita O, et al. Among authors: umezawa a. J Hum Genet. 2014 Jun;59(6):326-31. doi: 10.1038/jhg.2014.27. Epub 2014 May 1. J Hum Genet. 2014. PMID: 24785687

2

[Disorders of pituitary gland development].

Migita O, Umezawa A. Migita O, et al. Among authors: umezawa a. Nihon Rinsho. 2006 May 28;Suppl 1:206-11. Nihon Rinsho. 2006. PMID: 16776128 Review. Japanese. No abstract available.

3

Dystrophin conferral using human endothelium expressing HLA-E in the non-immunosuppressive murine model of Duchenne muscular dystrophy.

Cui CH, Miyoshi S, Tsuji H, Makino H, Kanzaki S, Kami D, Terai M, Suzuki H, Umezawa A. Cui CH, et al. Among authors: umezawa a. Hum Mol Genet. 2011 Jan 15;20(2):235-44. doi: 10.1093/hmg/ddq458. Epub 2010 Oct 14. Hum Mol Genet. 2011. PMID: 20947660 Free PMC article.

4

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Among authors: umezawa a. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.

5

De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.

Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M. Suzuki E, et al. Among authors: umezawa a. Horm Res Paediatr. 2014;81(2):139-44. doi: 10.1159/000355380. Epub 2013 Nov 20. Horm Res Paediatr. 2014. PMID: 24280688 Free article.

6

Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability.

Fukawatase Y, Toyoda M, Okamura K, Nakamura K, Nakabayashi K, Takada S, Yamazaki-Inoue M, Masuda A, Nasu M, Hata K, Hanaoka K, Higuchi A, Takubo K, Umezawa A. Fukawatase Y, et al. Among authors: umezawa a. Sci Rep. 2014 Jun 27;4:5421. doi: 10.1038/srep05421. Sci Rep. 2014. PMID: 24970375 Free PMC article.

7

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Izumi Y, et al. Among authors: umezawa a. Fertil Steril. 2014 Oct;102(4):1130-1136.e3. doi: 10.1016/j.fertnstert.2014.06.017. Epub 2014 Jul 23. Fertil Steril. 2014. PMID: 25064402 Free article.

8

The role of maternal-specific H3K9me3 modification in establishing imprinted X-chromosome inactivation and embryogenesis in mice.

Fukuda A, Tomikawa J, Miura T, Hata K, Nakabayashi K, Eggan K, Akutsu H, Umezawa A. Fukuda A, et al. Among authors: umezawa a. Nat Commun. 2014 Nov 14;5:5464. doi: 10.1038/ncomms6464. Nat Commun. 2014. PMID: 25394724 Free PMC article.

9

Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum.

Okamura K, Toyoda M, Hata K, Nakabayashi K, Umezawa A. Okamura K, et al. Among authors: umezawa a. Genom Data. 2015 Jul 20;6:4-6. doi: 10.1016/j.gdata.2015.07.008. eCollection 2015 Dec. Genom Data. 2015. PMID: 26697316 Free PMC article.

10

Human genetic variation database, a reference database of genetic variations in the Japanese population.

Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. Among authors: umezawa a. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.

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