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1,209 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: takata m. 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.
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M. Hira A, et al. Among authors: takata m. Am J Hum Genet. 2015 Jun 4;96(6):1001-7. doi: 10.1016/j.ajhg.2015.04.022. Am J Hum Genet. 2015. PMID: 26046368 Free PMC article.
Common Variable Immunodeficiency Caused by FANC Mutations.
Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S. Sekinaka Y, et al. Among authors: takata m. J Clin Immunol. 2017 Jul;37(5):434-444. doi: 10.1007/s10875-017-0396-4. Epub 2017 May 11. J Clin Immunol. 2017. PMID: 28493158
Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.
Yabe M, Koike T, Ohtsubo K, Imai E, Morimoto T, Takakura H, Koh K, Yoshida K, Ogawa S, Ito E, Okuno Y, Muramatsu H, Kojima S, Matsuo K, Mori M, Hira A, Takata M, Yabe H. Yabe M, et al. Among authors: takata m. Ann Hematol. 2019 Feb;98(2):271-280. doi: 10.1007/s00277-018-3517-0. Epub 2018 Oct 27. Ann Hematol. 2019. PMID: 30368588
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M. Mori M, et al. Among authors: takata m. Haematologica. 2019 Oct;104(10):1962-1973. doi: 10.3324/haematol.2018.207241. Epub 2019 Feb 21. Haematologica. 2019. PMID: 30792206 Free PMC article. Clinical Trial.
1,209 results