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871 results

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Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Takahashi Y, Kanno H, Yamaguchi H, Ohga S, Manabe A, Harigae H, Kunishima S, Ishii E, Kobayashi M, Koike K, Watanabe K, Ito E, Takata M, Yabe M, Ogawa S, Miyano S, Kojima S. Muramatsu H, et al. Among authors: kanno h. Genet Med. 2017 Jul;19(7):796-802. doi: 10.1038/gim.2016.197. Epub 2017 Jan 19. Genet Med. 2017. PMID: 28102861 Free article.
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I. Kuramitsu M, et al. Among authors: kanno h. Blood. 2012 Mar 8;119(10):2376-84. doi: 10.1182/blood-2011-07-368662. Epub 2012 Jan 18. Blood. 2012. PMID: 22262766 Free article.
A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level.
Kawabata H, Doisaki S, Okamoto A, Uchiyama T, Sakamoto S, Hama A, Hosoda K, Fujikura J, Kanno H, Fujii H, Tomosugi N, Nakao K, Kojima S, Takaori-Kondo A. Kawabata H, et al. Among authors: kanno h. Intern Med. 2012;51(8):917-20. doi: 10.2169/internalmedicine.51.6978. Epub 2012 Apr 15. Intern Med. 2012. PMID: 22504250 Free article.
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E. Wang R, et al. Among authors: kanno h. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25. Br J Haematol. 2015. PMID: 25424902 Free article.
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan.
Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E. Ikeda F, et al. Among authors: kanno h. Int J Hematol. 2016 Jan;103(1):112-4. doi: 10.1007/s12185-015-1891-0. Epub 2015 Nov 25. Int J Hematol. 2016. PMID: 26608366 No abstract available.
PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
Imashuku S, Muramatsu H, Sugihara T, Okuno Y, Wang X, Yoshida K, Kato A, Kato K, Tatsumi Y, Hattori A, Kita S, Oe K, Sueyoshi A, Usui T, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Kanno H. Imashuku S, et al. Among authors: kanno h. Int J Hematol. 2016 Jul;104(1):125-9. doi: 10.1007/s12185-016-1970-x. Epub 2016 Mar 14. Int J Hematol. 2016. PMID: 26971963
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia.
Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H. Utsugisawa T, et al. Among authors: kanno h. Blood Cells Mol Dis. 2016 Jul;59:31-6. doi: 10.1016/j.bcmd.2016.03.007. Epub 2016 Apr 11. Blood Cells Mol Dis. 2016. PMID: 27282564
871 results