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Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease
Author / Creator:Tsuchida, Naomi ; Kirino, Yohei ; Soejima, Yutaro ; Onodera, Masafumi ; Arai, Katsuhiro ; Tamura, Eiichiro ; Ishikawa, Takashi ; Kawai, Toshinao ; Uchiyama, Toru ; Nomura, Shigeru ; Kobayashi, Daisuke ; Taguri, Masataka ; Mitsuhashi, Satomi ; Mizuguchi, Takeshi ; Takata, Atsushi ; Miyake, Noriko ; Nakajima, Hideaki ; Miyatake, Satoko ; Matsumoto, Naomichi
Publisher:England: BioMed Central
Journal title:Arthritis research & therapy, 2019-06, Vol.21 (1), p.137-137, Article 137
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Minimal residual disease detection by mutation-specific droplet digital PCR for leukemia/lymphoma
Author / Creator:Shirai, Ryota ; Osumi, Tomoo ; Keino, Dai ; Nakabayashi, Kazuhiko ; Uchiyama, Toru ; Sekiguchi, Masahiro ; Hiwatari, Mitsuteru ; Yoshida, Masanori ; Yoshida, Kaoru ; Yamada, Yuji ; Tomizawa, Daisuke ; Takae, Seido ; Kiyokawa, Nobutaka ; Matsumoto, Kimikazu ; Yoshioka, Takako ; Hata, Kenichiro ; Hori, Toshinori ; Suzuki, Nao ; Kato, Motohiro
Publisher:Singapore: Springer Nature Singapore
Journal title:International journal of hematology, 2023-06, Vol.117 (6), p.910-918
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ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor
Author / Creator:Kanamaru, Yuri ; Uchiyama, Toru ; Kaname, Tadashi ; Yanagi, Kumiko ; Ohara, Osamu ; Kunishima, Shinji ; Ishiguro, Akira
Publisher:Singapore: Springer Singapore
Journal title:International journal of hematology, 2021-08, Vol.114 (2), p.297-300
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Comparison of clonazepam and levetiracetam in children for prevention of busulfan-induced seizure in hematopoietic stem cell transplantation
Author / Creator:Tsujimoto, Shin-ichi ; Shirai, Ryota ; Utano, Tomoyuki ; Osumi, Tomoo ; Matsumoto, Kana ; Shioda, Yoko ; Kiyotani, Chikako ; Uchiyama, Toru ; Deguchi, Takao ; Terashima, Keita ; Tomizawa, Daisuke ; Matsumoto, Kimikazu ; Kato, Motohiro
Publisher:Singapore: Springer Singapore
Journal title:International journal of hematology, 2020-03, Vol.111 (3), p.463-466
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Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3
Author / Creator:Komeno, Yukiko ; Uchiyama, Toru ; Kawano, Fuyuko ; Kurihara, Yuya ; Kurokawa, Mineo ; Ohara, Osamu ; Kunishima, Shinji ; Ishiguro, Akira
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Annals of hematology, 2023-10, Vol.102 (10), p.2947-2949
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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
Author / Creator:Yamano, Shio ; Iguchi, Akihiro ; Ishikawa, Kotaro ; Sakamoto, Atsushi ; Uchiyama, Toru ; Yanagi, Kumiko ; Kaname, Tadashi ; Kunishima, Shinji ; Ishiguro, Akira
Publisher:Singapore: Springer Nature Singapore
Journal title:International journal of hematology, 2023-04, Vol.117 (4), p.622-625
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Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy
Author / Creator:Ishikawa, Takashi ; Tamura, Eiichiro ; Kasahara, Mureo ; Uchida, Hajime ; Higuchi, Masataka ; Kobayashi, Hisato ; Shimizu, Hirotaka ; Ogawa, Eiki ; Yotani, Nobuyuki ; Irie, Rie ; Kosaki, Rika ; Kosaki, Kenjiro ; Uchiyama, Toru ; Onodera, Masafumi ; Kawai, Toshinao
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-07, Vol.41 (5), p.967-974
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High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors
Author / Creator:Shirai, Ryota ; Osumi, Tomoo ; Terashima, Keita ; Kiyotani, Chikako ; Uchiyama, Meri ; Tsujimoto, Shinichi ; Yoshida, Masanori ; Yoshida, Kaoru ; Uchiyama, Toru ; Tomizawa, Daisuke ; Shioda, Yoko ; Sekiguchi, Masahiro ; Watanabe, Kenichiro ; Keino, Dai ; Ueno-Yokohata, Hitomi ; Ohki, Kentaro ; Takita, Junko ; Ito, Shuichi ; Deguchi, Takao ; Kiyokawa, Nobutaka ; Ogiwara, Hideki ; Hishiki, Tomoro ; Ogawa, Seishi ; Okita, Hajime ; Matsumoto, Kimikazu ; Yoshioka, Takako ; Kato, Motohiro
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1124-1128
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A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity
Author / Creator:Shibata, Hirofumi ; Nakajima, Daisuke ; Konno, Ryo ; Hijikata, Atsushi ; Higashiguchi, Motoko ; Nihira, Hiroshi ; Shimodera, Saeko ; Miyamoto, Takayuki ; Nishitani-Isa, Masahiko ; Hiejima, Eitaro ; Izawa, Kazushi ; Takita, Junko ; Heike, Toshio ; Okamura, Ken ; Ohnishi, Hidenori ; Ishimura, Masataka ; Okada, Satoshi ; Yamashita, Motoi ; Morio, Tomohiro ; Kanegane, Hirokazu ; Imai, Kohsuke ; Nakamura, Yasuko ; Nonoyama, Shigeaki ; Uchiyama, Toru ; Onodera, Masafumi ; Nishikomori, Ryuta ; Ohara, Osamu ; Kawashima, Yusuke ; Yasumi, Takahiro
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2025-12, Vol.45 (1), p.33-33, Article 33
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Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms
Author / Creator:Tsujimoto, Shinichi ; Osumi, Tomoo ; Uchiyama, Meri ; Shirai, Ryota ; Moriyama, Takaya ; Nishii, Rina ; Yamada, Yuji ; Kudo, Ko ; Sekiguchi, Masahiro ; Arakawa, Yuki ; Yoshida, Masanori ; Uchiyama, Toru ; Terui, Kiminori ; Ito, Shuichi ; Koh, Katsuyoshi ; Takita, Junko ; Ito, Etsuro ; Tomizawa, Daisuke ; Manabe, Atsushi ; Kiyokawa, Nobutaka ; Yang, Jun J. ; Kato, Motohiro
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2018-12, Vol.32 (12), p.2710-2714
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Development of a Multi-Step Leukemogenesis Model of MLL-Rearranged Leukemia Using Humanized Mice
Author / Creator:Moriya, Kunihiko ; Suzuki, Makiko ; Watanabe, Yohei ; Takahashi, Takeshi ; Aoki, Yoko ; Uchiyama, Toru ; Kumaki, Satoru ; Sasahara, Yoji ; Minegishi, Masayoshi ; Kure, Shigeo ; Tsuchiya, Shigeru ; Sugamura, Kazuo ; Ishii, Naoto
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-06, Vol.7 (6), p.e37892-e37892
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Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study
Author / Creator:Onodera, Masafumi ; Uchiyama, Toru ; Ariga, Tadashi ; Yamada, Masafumi ; Miyamura, Takako ; Arizono, Hironori ; Morio, Tomohiro
Publisher:England: John Wiley & Sons, Inc
Journal title:Immunity, Inflammation and Disease, 2023-07, Vol.11 (7), p.e917-n/a
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Genome-wide Identification of Tebufenozide Resistant Genes in the smaller tea tortrix, Adoxophyes honmai (Lepidoptera: Tortricidae)
Author / Creator:Uchibori-Asano, Miwa ; Jouraku, Akiya ; Uchiyama, Toru ; Yokoi, Kakeru ; Akiduki, Gaku ; Suetsugu, Yoshitaka ; Kobayashi, Tetsuya ; Ozawa, Akihito ; Minami, Saki ; Ishizuka, Chiharu ; Nakagawa, Yoshiaki ; Daimon, Takaaki ; Shinoda, Tetsuro
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.4203, Article 4203
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Fecal Calprotectin Rise in Chronic Granulomatous Disease-Associated Colitis
Author / Creator:Nakazawa, Yumiko ; Kawai, Toshinao ; Arai, Katsuhiro ; Tamura, Eiichiro ; Uchiyama, Toru ; Onodera, Masafumi
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2017-11, Vol.37 (8), p.741-743
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Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y
Author / Creator:Suzuki, Erina ; Kobori, Yoshitomo ; Katsumi, Momori ; Ushijima, Kikumi ; Uchiyama, Toru ; Okada, Hiroshi ; Miyado, Mami ; Fukami, Maki
Publisher:Japan: John Wiley & Sons, Inc
Journal title:Reproductive medicine and biology, 2020-04, Vol.19 (2), p.178-181
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A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
Author / Creator:Ikawa, Yasuhiro ; Nakamura, Taichi ; Fujino, Noboru ; Uchiyama, Toru ; Ishiguro, Akira ; Takenaka, Mika ; Sakai, Yuta ; Noguchi, Kazuhiro ; Fujiki, Toshihiro ; Wada, Taizo
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2024-02, Vol.12 (2), p.e8304-n/a
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Severe and Rapid Progression in Very Early-Onset Chronic Granulomatous Disease-Associated Colitis
Author / Creator:Kawai, Toshinao ; Arai, Katsuhiro ; Harayama, Shizuko ; Nakazawa, Yumiko ; Goto, Fumihiro ; Maekawa, Takanobu ; Tamura, Eiichiro ; Uchiyama, Toru ; Onodera, Masafumi
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2015-08, Vol.35 (6), p.583-588
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Single Cell-Based Vector Tracing in Patients with ADA-SCID Treated with Stem Cell Gene Therapy
Author / Creator:Igarashi, Yuka ; Uchiyama, Toru ; Minegishi, Tomoko ; Takahashi, Sirirat ; Watanabe, Nobuyuki ; Kawai, Toshinao ; Yamada, Masafumi ; Ariga, Tadashi ; Onodera, Masafumi
Publisher:United States: Elsevier Limited
Journal title:Molecular therapy. Methods & clinical development, 2017-09, Vol.6 (C), p.8-16
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Gene Therapy Model of X-linked Severe Combined Immunodeficiency Using a Modified Foamy Virus Vector
Author / Creator:Horino, Satoshi ; Uchiyama, Toru ; So, Takanori ; Nagashima, Hiroyuki ; Sun, Shu-lan ; Sato, Miki ; Asao, Atsuko ; Haji, Yoichi ; Sasahara, Yoji ; Candotti, Fabio ; Tsuchiya, Shigeru ; Kure, Shigeo ; Sugamura, Kazuo ; Ishii, Naoto
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e71594-e71594
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Band acro-osteolysis in a middle-aged woman
Author / Creator:Uchiyama, Toru
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2019-03, Vol.12 (3), p.e229054
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Showing 1 to 20 of 46 results

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Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

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Minimal residual disease detection by mutation-specific droplet digital PCR for leukemia/lymphoma

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ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor

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Comparison of clonazepam and levetiracetam in children for prevention of busulfan-induced seizure in hematopoietic stem cell transplantation

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Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3

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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

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Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy

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High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors

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A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity

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Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms

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Development of a Multi-Step Leukemogenesis Model of MLL-Rearranged Leukemia Using Humanized Mice

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Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study

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Genome-wide Identification of Tebufenozide Resistant Genes in the smaller tea tortrix, Adoxophyes honmai (Lepidoptera: Tortricidae)

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Fecal Calprotectin Rise in Chronic Granulomatous Disease-Associated Colitis

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Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y

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A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia

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Severe and Rapid Progression in Very Early-Onset Chronic Granulomatous Disease-Associated Colitis

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Single Cell-Based Vector Tracing in Patients with ADA-SCID Treated with Stem Cell Gene Therapy

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Gene Therapy Model of X-linked Severe Combined Immunodeficiency Using a Modified Foamy Virus Vector

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Band acro-osteolysis in a middle-aged woman

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