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Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: matsumoto k. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality.
Osumi T, Tsujimoto SI, Nakabayashi K, Taniguchi M, Shirai R, Yoshida M, Uchiyama T, Nagasawa J, Goyama S, Yoshioka T, Tomizawa D, Kurokawa M, Matsubara Y, Kiyokawa N, Matsumoto K, Hata K, Kato M. Osumi T, et al. Among authors: matsumoto k. Pediatr Blood Cancer. 2018 Jun;65(6):e26959. doi: 10.1002/pbc.26959. Epub 2018 Jan 22. Pediatr Blood Cancer. 2018. PMID: 29356389 No abstract available.
Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation.
Osumi T, Tsujimoto SI, Tamura M, Uchiyama M, Nakabayashi K, Okamura K, Yoshida M, Tomizawa D, Watanabe A, Takahashi H, Hori T, Yamamoto S, Hamamoto K, Migita M, Ogata-Kawata H, Uchiyama T, Kizawa H, Ueno-Yokohata H, Shirai R, Seki M, Ohki K, Takita J, Inukai T, Ogawa S, Kitamura T, Matsumoto K, Hata K, Kiyokawa N, Goyama S, Kato M. Osumi T, et al. Among authors: matsumoto k. Cancer Res. 2018 Aug 15;78(16):4452-4458. doi: 10.1158/0008-5472.CAN-18-0840. Epub 2018 Jun 19. Cancer Res. 2018. PMID: 29921692
A prospective study of allogeneic transplantation from unrelated donors for chronic granulomatous disease with target busulfan-based reduced-intensity conditioning.
Osumi T, Tomizawa D, Kawai T, Sako M, Inoue E, Takimoto T, Tamura E, Uchiyama T, Imadome KI, Taniguchi M, Shirai R, Yoshida M, Ando R, Tsumura Y, Fuji H, Matsumoto K, Shioda Y, Kiyotani C, Terashima K, Onodera M, Matsumoto K, Kato M. Osumi T, et al. Among authors: matsumoto k. Bone Marrow Transplant. 2019 Jan;54(1):168-172. doi: 10.1038/s41409-018-0271-9. Epub 2018 Jun 29. Bone Marrow Transplant. 2019. PMID: 29959437 Clinical Trial. No abstract available.
A novel KMT2A-ACTN2 fusion in infant B-cell acute lymphoblastic leukemia.
Yoshida M, Nakabayashi K, Ogata-Kawata H, Osumi T, Tsujimoto SI, Shirai R, Yoshida K, Okamura K, Matsumoto K, Kiyokawa N, Tomizawa D, Hata K, Kato M. Yoshida M, et al. Among authors: matsumoto k. Pediatr Blood Cancer. 2019 Aug;66(8):e27821. doi: 10.1002/pbc.27821. Epub 2019 May 21. Pediatr Blood Cancer. 2019. PMID: 31115144 No abstract available.
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
Shirai R, Osumi T, Terashima K, Kiyotani C, Uchiyama M, Tsujimoto S, Yoshida M, Yoshida K, Uchiyama T, Tomizawa D, Shioda Y, Sekiguchi M, Watanabe K, Keino D, Ueno-Yokohata H, Ohki K, Takita J, Ito S, Deguchi T, Kiyokawa N, Ogiwara H, Hishiki T, Ogawa S, Okita H, Matsumoto K, Yoshioka T, Kato M. Shirai R, et al. Among authors: matsumoto k. Eur J Hum Genet. 2020 Aug;28(8):1124-1128. doi: 10.1038/s41431-020-0614-z. Epub 2020 Mar 26. Eur J Hum Genet. 2020. PMID: 32218533 Free PMC article.
Prospective Study of Allogeneic Hematopoietic Stem Cell Transplantation with Post-Transplantation Cyclophosphamide and Antithymocyte Globulin from HLA-Mismatched Related Donors for Nonmalignant Diseases.
Osumi T, Yoshimura S, Sako M, Uchiyama T, Ishikawa T, Kawai T, Inoue E, Takimoto T, Takeuchi I, Yamada M, Sakamoto K, Yoshida K, Kimura Y, Matsukawa Y, Matsumoto K, Imadome KI, Arai K, Deguchi T, Imai K, Yuza Y, Matsumoto K, Onodera M, Kanegane H, Tomizawa D, Kato M. Osumi T, et al. Among authors: matsumoto k. Biol Blood Marrow Transplant. 2020 Nov;26(11):e286-e291. doi: 10.1016/j.bbmt.2020.08.008. Epub 2020 Aug 14. Biol Blood Marrow Transplant. 2020. PMID: 32798657 Free article.
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