Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

887 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Toki T, Yoshida K, Wang R, Nakamura S, Maekawa T, Goi K, Katoh MC, Mizuno S, Sugiyama F, Kanezaki R, Uechi T, Nakajima Y, Sato Y, Okuno Y, Sato-Otsubo A, Shiozawa Y, Kataoka K, Shiraishi Y, Sanada M, Chiba K, Tanaka H, Terui K, Sato T, Kamio T, Sakaguchi H, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Kanno H, Miyano S, Kojima S, Ishiguro A, Sugita K, Kenmochi N, Takahashi S, Eto K, Ogawa S, Ito E. Toki T, et al. Among authors: kanno h. Am J Hum Genet. 2018 Sep 6;103(3):440-447. doi: 10.1016/j.ajhg.2018.07.020. Epub 2018 Aug 23. Am J Hum Genet. 2018. PMID: 30146126 Free PMC 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.
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
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E. Ikeda F, et al. Among authors: kanno h. Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1. Haematologica. 2017. PMID: 27909223 Free PMC article. No abstract available.
887 results