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3,121 results

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Page 1
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: koike k. 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.
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, Ohga S, Hara T, Hama A, Kojima S, Hasegawa D, Kosaka Y, Yanagisawa R, Koike K, Kanai R, Imai T, Hongo T, Park MJ, Sugita K, Ito E. Konno Y, et al. Among authors: koike k. Haematologica. 2010 Aug;95(8):1293-9. doi: 10.3324/haematol.2009.020826. Epub 2010 Apr 7. Haematologica. 2010. PMID: 20378560 Free PMC article.
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: koike k. 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.
Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Hanada I, Terui K, Ikeda F, Toki T, Kanezaki R, Sato T, Kamio T, Kudo K, Sasaki S, Takahashi Y, Hayashi Y, Inukai T, Kojima S, Koike K, Kosaka Y, Kobayashi M, Imaizumi M, Mitsui T, Hori H, Hara J, Horibe K, Nagai J, Goto H, Ito E. Hanada I, et al. Among authors: koike k. Genes Chromosomes Cancer. 2014 Nov;53(11):902-10. doi: 10.1002/gcc.22201. Epub 2014 Jul 16. Genes Chromosomes Cancer. 2014. PMID: 25044358
Essential role of PTPN11 mutation in enhanced haematopoietic differentiation potential of induced pluripotent stem cells of juvenile myelomonocytic leukaemia.
Shigemura T, Matsuda K, Kurata T, Sakashita K, Okuno Y, Muramatsu H, Yue F, Ebihara Y, Tsuji K, Sasaki K, Nakahata T, Nakazawa Y, Koike K. Shigemura T, et al. Among authors: koike k. Br J Haematol. 2019 Oct;187(2):163-173. doi: 10.1111/bjh.16060. Epub 2019 Jun 20. Br J Haematol. 2019. PMID: 31222725 Free article.
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
Yoshida N, Yagasaki H, Xu Y, Matsuda K, Yoshimi A, Takahashi Y, Hama A, Nishio N, Muramatsu H, Watanabe N, Matsumoto K, Kato K, Ueyama J, Inada H, Goto H, Yabe M, Kudo K, Mimaya J, Kikuchi A, Manabe A, Koike K, Kojima S. Yoshida N, et al. Among authors: koike k. Pediatr Res. 2009 Mar;65(3):334-40. doi: 10.1203/PDR.0b013e3181961d2a. Pediatr Res. 2009. PMID: 19047918
Methylation status of the p15 and p16 genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia.
Hasegawa D, Manabe A, Kubota T, Kawasaki H, Hirose I, Ohtsuka Y, Tsuruta T, Ebihara Y, Goto Y, Zhao XY, Sakashita K, Koike K, Isomura M, Kojima S, Hoshika A, Tsuji K, Nakahata T. Hasegawa D, et al. Among authors: koike k. Br J Haematol. 2005 Mar;128(6):805-12. doi: 10.1111/j.1365-2141.2005.05392.x. Br J Haematol. 2005. PMID: 15755284 Free article.
Allogeneic haematopoietic cell transplantation from alternative donors with a conditioning regimen of low-dose irradiation, fludarabine and cyclophosphamide in Fanconi anaemia.
Yabe H, Inoue H, Matsumoto M, Hamanoue S, Koike T, Ishiguro H, Koike H, Suzuki K, Kato S, Kojima S, Tsuchida M, Mori T, Adachi S, Tsuji K, Koike K, Morimoto A, Sako M, Yabe M. Yabe H, et al. Among authors: koike k, koike h, koike t. Br J Haematol. 2006 Jul;134(2):208-12. doi: 10.1111/j.1365-2141.2006.06128.x. Br J Haematol. 2006. PMID: 16846479 Free article.
Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia.
Doisaki S, Muramatsu H, Shimada A, Takahashi Y, Mori-Ezaki M, Sato M, Kawaguchi H, Kinoshita A, Sotomatsu M, Hayashi Y, Furukawa-Hibi Y, Yamada K, Hoshino H, Kiyoi H, Yoshida N, Sakaguchi H, Narita A, Wang X, Ismael O, Xu Y, Nishio N, Tanaka M, Hama A, Koike K, Kojima S. Doisaki S, et al. Among authors: koike k. Blood. 2012 Aug 16;120(7):1485-8. doi: 10.1182/blood-2012-02-406090. Epub 2012 Jul 2. Blood. 2012. PMID: 22753870 Free article.
3,121 results