Tokyo Medical and Dental University Hospital Department of Pediatrics and Developmental Biology

TMDU HOME
  • 代表電話番号
  • mail
  • サイト内検索
JAPANESE

2019 PUBLICATIONS

  1. Kei Takasawa, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yasunori Wada, Keisuke Nagasaki, Sumito Dateki, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio. Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene. J Diabetes. 2019.01; 11(1); 46-54
  2. Keiichi Iwanami, Tsubasa Okano, Osamu Ohara, Tomohiro Morio. Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. Intern Med. 2019.01; 58(2); 213-216
  3. Mari Kubota-Tanaka, Tomoo Osumi, Shouko Miura, Hiroshi Tsujimoto, Toshihiko Imamura, Akira Nishimura, Kentaro Oki, Kozue Nakamura, Satoshi Miyamoto, Kento Inoue, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Shinji Kounami, Mikiya Endo, Motohiro Kato, Masatoshi Takagi. B-lymphoblastic lymphoma with the TCF3-PBX1 fusion gene. Haematologica. 2019.01; 104(1); 35-37
  4. Egawa M, Imai K, Taketani Y, Morio T, Miyasaka N. Two Prenatal Cases of Hyper-IgE Syndrome. J. Clin. Immunol. 2019.01;39(1); 15-18
  5. Masatoshi Takagi, Chitose Ogawa, Yuki Aoki-Nogami, Tomoko Iehara, Eri Ishibashi, Minoru Imai, Tetsuro Kihara, Kiyoshi Nobori, Kazuhisa Hasebe, Shuki Mizutani, Toshimi Kimura, Masashi Nagata, Masato Yasuhara, Kenichi Yoshimura, Pariko Yorozu, Hajime Hosoi, Ryuji Koike. Phase I clinical study of oral olaparib in pediatric patients with refractory solid tumors: study protocol. BMC Pediatr. 2019.01; 19(1); 31
  6. Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019.02; 41(2); 150-157
  7. Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu- Wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, Masataka Ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shouichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane. Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. Front Pediatr. 2019.02; 7; 15
  8. Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clinical and experimental nephrology. 2019.02; 23(2); 158−168
  9. Yuichi Miyakawa, Kei Takasawa, Yohei Matsubara, Kenji Ihara, Yoshiaki Ohtsu, Hotaka Kamasaki, Kazuteru Kitsuda, Hironori Kobayashi, Mari Satoh, Sinichiro Sano, Sumito Dateki, Hiroshi Mochizuki, Ichiro Yokota, Yukihiro Hasegawa, Kenichi Kashimada. Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. Endocr. J. 2019.03; 66(3); 215-221
  10. Keiichi Fukuda, Hiroshi Date, Shozaburo Doi, Yoshihiro Fukumoto, Norihide Fukushima, Masaru Hatano, Hiroshi Ito, Masataka Kuwana, Hiromi Matsubara, Shin-Ichi Momomura, Masaharu Nishimura, Hitoshi Ogino, Toru Satoh, Hiroaki Shimokawa, Keiko Yamauchi-Takihara, Koichiro Tatsumi, Hatsue Ishibashi- Ueda, Norikazu Yamada, Shunji Yoshida, Kohtaro Abe, Aiko Ogawa, Takeshi Ogo, Takatoshi Kasai, Masaharu Kataoka, Takashi Kawakami, Shigetoyo Kogaki, Mashio Nakamura, Tomotaka Nakayama, Mari Nishizaki, Koichiro Sugimura, Nobuhiro Tanabe, Ichizo Tsujino, Atsushi Yao, Takashi Akasaka, Motomi Ando, Takeshi Kimura, Takayuki Kuriyama, Norifumi Nakanishi, Toshio Nakanishi, Hiroyuki Tsutsui. Guidelines for the Treatment of Pulmonary Hypertension (JCS 2017/JPCPHS 2017). Circ. J. 2019.03; 83(4); 842-945
  11. Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Der- falvi, Figen Dogu, J David M Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko Rj Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E Sullivan. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019.03; 12(3); 100018
  12. Eri Kumaki, Keisuke Tanaka, Kohsuke Imai, Yuki Aoki-Nogami, Akira Ishiguro, Satoshi Okada, Hirokazu Kanegane, Fumihiko Ishikawa, Tomohiro Morio. Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. Int J Hematol. 2019.04; 109(4); 382-389
  13. Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atsumi Tsuji-Hosokawa, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio. Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. J. Cell. Sci. 2019.04; 132(8); jcs223768
  14. H Sasaki, A Takamura, K Kawahata, T Takashima, K Imai, T Morio, H Kohsaka. Peripheral blood lymphocyte subset repertoires are biased and reflect clinical features in patients with dermatomyositis. Scand J Rheumatol. 2019.05; 48(3); 225-229
  15. Motoi Yamashita, Ryosuke Wakatsuki, Tamaki Kato, Tsubasa Okano, Shingo Yamanishi, Nobuko Mayumi, Mayuri Tanaka, Yumi Ogura, Hirokazu Kanegane, Shigeaki Nonoyama, Kohsuke Imai, Tomohiro Morio. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. Int. J. Hemato. 2019.05; 109(5); 603-611
  16. Matsuura Yuko, Daimon Masao, Notomi Yuuichi, Miyasaka Naoyuki, Yamaguchi Yohei, Doi Shozaburo. Feasibility and Reproducibility of Fetal Left Ventricular Twist Using Two-Dimensional Speckle-Tracking Analysis in a Japanese Population International Heart Journal. 2019.05; 60(3); 671-678
  17. Sawada H, Mitani Y, Nakayama T, Fukushima H, Kogaki S, Igarashi T, Ichida F, Ono Y, Nakanishi T, Doi S, Ishikawa S, Matsushima M, Yamada O, Saji T. Detection of Pediatric Pulmonary Arterial Hypertension by School Electrocardiography Mass Screening. American journal of respiratory and critical care medicine. 2019.06; 199(11); 1397-1406
  18. Hoshino A, Kanegane H, Nishi M, Tsuge I, Tokuda K, Kobayashi I, Imai K, Morio T, Takagi M. Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. Clin. Immunol. 2019.06; 203; 9-13
  19. Takashi Okumura, Yumi Horie, Chen-Yi Lai, Huan-Ting Lin, Hirofumi Shoda, Bunki Natsumoto, Keishi Fujio, Eri Kumaki, Tsubasa Okano, Shintaro Ono, Kay Tanita, Tomohiro Morio, Hirokazu Kanegane, Hisanori Hasegawa, Fumitaka Mizoguchi, Kimito Kawahata, Hitoshi Kohsaka, Hiroshi Moritake, Hiroyuki Nunoi, Hironori Waki, Shin-Ichi Tamaru, Takayoshi Sasako, Toshimasa Yamauchi, Takashi Kadowaki, Hiroyuki Tanaka, Sachiko Kitanaka, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Makoto Otsu. Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector. Stem Cell Res Ther. 2019.06; 10(1); 185
  20. Katsutsugu Umeda, Hiromasa Yabe, Koji Kato, Kohsuke Imai, Masao Kobayashi, Yoshiyuki Takahashi, Nao Yoshida, Maho Sato, Yoji Sasahara, Keisuke Kato, Souichi Adachi, Yuhki Koga, Keiko Okada, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio. Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning. Bone Marrow Transplant. 2019.08; 54(8); 1227-1236
  21. Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani. Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. Brain Dev. 2019.08; 41(7); 630-633
  22. Ishiwa S, Sato M, Morisada N, Nishi K, Kanamori T, Okutsu M, Ogura M, Sako M, Kosuga M, Kamei K, Ito S, Nozu K, Iijima K, Ishikura K. Association Between the Clinical Presentation of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and Gene Mutations: An Analysis of 66 Patients at a Single Institution. Pediatr Nephrol. 2019.08; 34(8); 1457-1464
  23. Hayase T, Ikeda T, Yoshimoto T, Imai K, Morimoto A. Fatal idiopathic pneumonia syndrome in Artemis deficiency. Pediatr Int. 2019.09; 61(9); 929-931
  24. Makiko Egawa, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio, Naoyuki Miyasaka. Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. J. Matern. Fetal. Neonatal. Med. 2019.09; 32(18); 3092-3096
  25. Akihiro Iguchi, Yuko Cho, Hiromasa Yabe, Shunichi Kato, Koji Kato, Junichi Hara, Katsuyoshi Koh, Junko Takita, Takashi Ishihara, Masami Inoue, Kohsuke Imai, Hideki Nakayama, Yoshiko Hashii, Akira Morimoto, Yoshiko Atsuta, Tomohiro Morio. Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey. Int. J. Hematol. 2019.09; 110(3); 364-369
  26. Atsushi Watanabe, Takeshi Inukai, Keiko Kagami, Masako Abe, Masatoshi Takagi, Takashi Fukushima, Hiroko Fukushima, Toru Nanmoku, Kiminori Terui, Tatsuya Ito, Tsutomu Toki, Etsuro Ito, Junya Fujimura, Hiroaki Goto, Mikiya Endo, Thomas Look, Mark Kamps, Masayoshi Minegishi, Junko Takita, Toshiya Inaba, Hiroyuki Takahashi, Akira Ohara, Daisuke Harama, Tamao Shinohara, Shinpei Somazu, Hiroko Oshiro, Koshi Akahane, Kumiko Goi, Kanji Sugita. Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019.09; 8(11); 5274-5288
  27. Yusuke Tozawa, Shimaa Said Mohamed Ali Abdrabou, Natsuko Nogawa-Chida, Ritsuo Nishiuchi, Toshiaki Ishida, Yuichi Suzuki, Hideki Sano, Ryoji Kobayashi, Kenji Kishimoto, Osamu Ohara, Kohsuke Imai, Takuya Naruto, Kunihiko Kobayashi, Tadashi Ariga, Masafumi Yamada. A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM). Clin. Immunol. 2019.09; 108256
  28. Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori- Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019.10; 104(10); 1962-1973
  29. Maeda Y, Takasawa K, Ishii T, Nagashima A, Mouri M, Kunieda J, Morisaki H, Ito T, Mori M, Kashimada K, Doi S, Morio T. A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. Cardiology. 2019.10; 1-7
  30. Sutani A, Miyakawa Y, Tsuji-Hosokawa A, Nomura R, Nakagawa R, Nakajima K, Maru M, Aoki Y, Takasawa K, Takagi M, Imai K, Kashimada K, Morio T. Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2019.10; 28(4); 105-112
  31. Ibusuki A, Nishikawa T, Hiraki T, Okano T, Imai K, Kanegane H, Ohnishi H, Kato Z, Fujii K, Tanimoto A, Kawano Y, Kanekura T. Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. J. Dermatol. 2019.11; 46(11); 1019-1023
  32. Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Tomoko Mizuno, Kengo Moriyama, Yuji Sugawara, Ikuko Shirai, Yohane Miyata, Hiroya Nishida, Hideaki Mashimo, Takeshi Hasegawa, Takatoshi Hosokawa, Hiroaki Hisakawa, Mitsugu Uematsu, Akio Fujine, Rie Miyata, Hiroshi Sakuma, Kenichi Kashimada, Kohsuke Imai, Tomohiro Morio, Masaharu Hayashi, Shuki Mizutani, Masatoshi Takagi. Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100; 60-66
  33. Takeru Yamauchi, Kei Takasawa, Takahiro Kamiya, Shizuka Kirino, Maki Gau, Kento Inoue, Akihiro Hoshino, Kenichi Kashimada, Hirokazu Kanegane, Tomohiro Morio. Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. Pediatr Diabetes. 2019.11; 20(7); 1035-1040
  34. Hosokawa Y, Higuchi S, Kawakita R, Hata I, Urakami T, Isojima T, Takasawa K, Matsubara Y, Mizuno H, Maruo Y, Matsui K, Aizu K, Jinno K, Araki S, Fujisawa Y, Osugi K, Tono C, Takeshima Y, Yorifuji T. Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young. Journal of Diabetes Investigation. 2019.11; 10(6); 1586-1589
  35. Tomohiro Morio, Gautam Baheti, Michael A Tortorici, Jutta Hofmann, Mikhail A Rojavin. Pharmacokinetic properties of Privigen® in Japanese patients with primary immunodeficiency. Immunol Med. 2019.12; 42(4); 162-168
pagetop