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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: kobayashi 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.
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: kobayashi m. Genes Chromosomes Cancer. 2014 Nov;53(11):902-10. doi: 10.1002/gcc.22201. Epub 2014 Jul 16. Genes Chromosomes Cancer. 2014. PMID: 25044358
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
Kataoka S, Muramatsu H, Okuno Y, Hayashi Y, Mizoguchi Y, Tsumura M, Okada S, Kobayashi M, Sano C, Sato H, Oh-Iwa I, Ito M, Kojima D, Hama A, Takahashi Y, Kojima S. Kataoka S, et al. Among authors: kobayashi m. J Allergy Clin Immunol. 2016 Feb;137(2):619-622.e1. doi: 10.1016/j.jaci.2015.06.028. Epub 2015 Aug 1. J Allergy Clin Immunol. 2016. PMID: 26242301 No abstract available.
Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia.
Narita A, Muramatsu H, Sekiya Y, Okuno Y, Sakaguchi H, Nishio N, Yoshida N, Wang X, Xu Y, Kawashima N, Doisaki S, Hama A, Takahashi Y, Kudo K, Moritake H, Kobayashi M, Kobayashi R, Ito E, Yabe H, Ohga S, Ohara A, Kojima S; Japan Childhood Aplastic Anemia Study Group. Narita A, et al. Among authors: kobayashi m, kobayashi r. Haematologica. 2015 Dec;100(12):1546-52. doi: 10.3324/haematol.2015.132530. Epub 2015 Aug 27. Haematologica. 2015. PMID: 26315930 Free PMC article. Clinical Trial.
Remission of autoimmune neutropenia after development of Kawasaki disease.
Okada S, Hasegawa S, Suzuki Y, Ichimura T, Kaneyasu H, Shimomura M, Wakabayashi-Takahara M, Nakamura K, Kobayashi M, Ohga S. Okada S, et al. Among authors: kobayashi m. Pediatr Int. 2015 Oct;57(5):1012-4. doi: 10.1111/ped.12701. Epub 2015 Sep 10. Pediatr Int. 2015. PMID: 26508185
Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
Tsujita Y, Mitsui-Sekinaka K, Imai K, Yeh TW, Mitsuiki N, Asano T, Ohnishi H, Kato Z, Sekinaka Y, Zaha K, Kato T, Okano T, Takashima T, Kobayashi K, Kimura M, Kunitsu T, Maruo Y, Kanegane H, Takagi M, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Morio T, Nonoyama S. Tsujita Y, et al. Among authors: kobayashi k, kobayashi m. J Allergy Clin Immunol. 2016 Dec;138(6):1672-1680.e10. doi: 10.1016/j.jaci.2016.03.055. Epub 2016 Jul 14. J Allergy Clin Immunol. 2016. PMID: 27426521
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.
Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H. Hoshino A, et al. Among authors: kobayashi m. J Allergy Clin Immunol. 2017 Jul;140(1):223-231. doi: 10.1016/j.jaci.2016.09.029. Epub 2016 Dec 6. J Allergy Clin Immunol. 2017. PMID: 27939403
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