東京医科歯科大学小児科

東京医科歯科大学小児科は、日常的な小児医療から難病の治療まで、
患者様の立場に立った優しい医療を行っています。

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業績

2017年度 業績集

東京医科歯科大学大学院医歯学総合研究科年報 2017年

研究業績(原著論文)
  1. Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-Ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum. Mutat.. 2017.01; 38(1); 39-42
  2. Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio. A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. Horm Res Paediatr. 2017.01; 87(4); 217-216
  3. Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane. Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. J. Clin. Immunol. 2017.01; 37(1); 85-91
  4. Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure. Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunod-eficiency Genes in Pediatric IBD: a Japanese Multicenter Study. J. Clin. Immunol. 2017.01; 37(1);
  5. 67- 79
  6. Chikako Morioka, Motohiro Komaki, Atsuko Taki, Izumi Honda, Naoki Yokoyama, Kengo Iwasaki, Sachiko Iseki, Tomohiro Morio, Ikuo Morita. Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats. Inflamm Regen. 2017.01; 37; 1
  7. Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira. Abdom-inal paraganglioma in a young woman with 1p36 deletion syndrome. Am. J. Med. Genet. A. 2017.02; 173(2); 495-500
  8. Atsumi Tsuji-Hosokawa, Kei Takasawa, Risa Nomura, Yuichi Miyakawa, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Yoshihiro Ogawa, Kenichi Kashimada, Tomohiro Morio. Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases. Pediatr Diabetes. 2017.02;
  9. Kaori Hisa, Masakatsu D Yanagimachi, Takuya Naruto, Takako Miyamae, Masako Kikuchi, Rhoki Hara, Tomoyuki Imagawa, Shumpei Yokota, Masaaki Mori. PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis. PLoS ONE. 2017.02; 12(2); e0171961
  10. Tanya I Coulter, Anita Chandra, Chris M Bacon, Judith Babar, James Curtis, Nick Screaton, John R Goodlad, George Farmer, Cathal Laurence Steele, Timothy Ronan Leahy, Rainer Doffinger, Helen Bax-endale, Jolanta Bernatoniene, J David M Edgar, Hilary J Longhurst, Stephan Ehl, Carsten Speckmann, Bodo Grimbacher, Anna Sediva, Tomas Milota, Saul N Faust, Anthony P Williams, Grant Hayman, Zeynep Yesim Kucuk, Rosie Hague, Paul French, Richard Brooker, Peter Forsyth, Richard Herriot, Cate-rina Cancrini, Paolo Palma, Paola Ariganello, Niall Conlon, Conleth Feighery, Patrick J Gavin, Alison Jones, Kohsuke Imai, Mohammad A A Ibrahim, GaŠper Markelj, Mario Abinun, Frédéric Rieux-Laucat, Sylvain Latour, Isabelle Pellier, Alain Fischer, Fabien Touzot, Jean-Laurent Casanova, Anne Durandy, Siobhan O Burns, Sinisa Savic, D S Kumararatne, Despina Moshous, Sven Kracker, Bart Vanhaesebroeck, Klaus Okkenhaug, Capucine Picard, Sergey Nejentsev, Alison M Condliffe, Andrew James Cant. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study J. Allergy Clin. Immunol. 2017.02; 139(2); 597-606.e4
  11. Jinhua Piao, Shiori Takai, Takahiro Kamiya, Takeshi Inukai, Kanji Sugita, Kazuma Ohyashiki, Domenico Delia, Mitsuko Masutani, Shuki Mizutani, Masatoshi Takagi. Poly (ADP-ribose) polymerase inhibitors selectively induce cytotoxicity in TCF3-HLF-positive leukemic cells. Cancer Lett. 2017.02; 386; 131-140
  12. Yu Sasaki, Teruo Hidaka, Takashi Ueno, Miyuki Akiba-Takagi, Juan Alejandro Oliva Trejo, Takuto Seki, Yoshiko Nagai-Hosoe, Eriko Tanaka, Satoshi Horikoshi, Yasuhiko Tomino, Yusuke Suzuki, Katsuhiko Asanuma. Sorting Nexin 9 facilitates podocin endocytosis in the injured podocyte. Sci Rep. 2017.03; 7; 43921
  13. Yayoi Kimura, Masakatsu Yanagimachi, Yoko Ino, Mao Aketagawa, Michie Matsuo, Akiko Okayama, Hiroyuki Shimizu, Kunihiro Oba, Ichiro Morioka, Tomoyuki Imagawa, Tetsuji Kaneko, Shumpei Yokota, Hisashi Hirano, Masaaki Mori. Identification of candidate diagnostic serum biomarkers for Kawasaki disease using proteomic analysis. Sci Rep. 2017.03; 7; 43732
  14. M Kato, S Ishimaru, M Seki, K Yoshida, Y Shiraishi, K Chiba, N Kakiuchi, Y Sato, H Ueno, H Tanaka, T Inukai, D Tomizawa, D Hasegawa, T Osumi, Y Arakawa, T Aoki, M Okuya, K Kaizu, K Kato, Y Taneyama, H Goto, T Taki, M Takagi, M Sanada, K Koh, J Takita, S Miyano, S Ogawa, A Ohara, M Tsuchida, A Manabe. Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children. Leukemia. 2017.03; 31(3); 580-584
  15. 柳町 昌克. 【小児科ケースカンファレンス】 免疫異常、膠原病、リウマチ疾患、感染症 慢性肉芽腫症 小児科診療. 2017.04; 80 巻増刊; 147-150
  16. Makiko Egawa, Kohsuke Imai, Masaaki Mori, Naoyuki Miyasaka, Tetsuo Kubota. Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. J. Clin. Immunol.. 2017.04;
  17. Shimpei Baba, Yuji Sugawara, Kengo Moriyama, Motoki Inaji, Taketoshi Maehara, Toshiyuki Yamamoto, Tomohiro Morio. Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. Brain Dev. 2017.04; 39(4); 341-344
  18. 山口 (藤巻) 明日香, 大坂渓, 田中 (久保田) 真理, 宮本智史, 満生紀子, 高木正稔, 今井耕輔, 窪田満, 金兼弘和,森尾友宏. 無形成発作を契機に診断されたグルコース-6—リン酸脱水素酵素欠損症の日本男児 日本小児科学会雑誌. 2017.04; 121(4); 724-728
  19. 廣木遥, 岡野翼, 山下基, 足洗美穂, 宮本智史, 小林千佳, 青木由貴, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏. Epstein-Barr ウイルス関連血球貪食性リンパ組織球症にリツキシマブが奏功した X 連鎖リンパ増殖症候群1 型の一例 日本小児血液 · がん学会雑誌. 2017.04; 54(1); 25-29
  20. Amit Rawat, Pandiarajan Vignesh, Avinash Sharma, Jitendra K Shandilya, Madhubala Sharma, Deepti Suri, Anju Gupta, Vikas Gautam, Pallab Ray, Shivaprakash M Rudramurthy, Arunaloke Chakrabarti, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Yu L Lau, Surjit Singh. Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India J. Clin. Im-munol. 2017.04; 37(3); 319-328
  21. James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Buechner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kus Nierz, Morton J Cowan, Alain Fischer, Andrew R Gennery. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders J. Allergy Clin. Immunol. 2017.04;
  22. 金森 透, 岡田 麻理, 長澤 正之, 大柴 晃洋, 堀口 晴子, 菊池 信行. 母体低 Na 血症に伴う新生児低 Na 血症の一例 日本小児体液研究会誌 . 2017.05; 9; 13-17
  23. Nienke J H van Os, Anne F M Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T M van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A Haaxma, Tomohiro Morio, Amit Rawat, Michiel H D Schoenaker, Annarosa Soresina, Alexander M R Taylor, Bart P C van de Warrenburg, Corry M R Weemaes, Nel Roeleveld, Michèl A A P Willemsen. Ataxia-telangiectasia: Immunodeficiency and survival. Clin. Immunol.. 2017.05; 178; 45-55
  24. Haruna Yokoyama, Shimpei Baba, Jun Oyama, Kengo Moriyama, Tomohiro Morio. Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. Brain Dev.. 2017.05; 39(8); 722
  25. 山口洋平, 小宮枝里子, 武井陽, 笠木実央子, 前田佳真, 渡邉友博, 梶川優介, 細川奨, 渡部誠一, 森尾友宏, 土井庄三郎. Treprostinil 持続皮下投与の導入と継続に成功した精神発達遅滞を有する小児特発性肺動脈性肺高血圧症例 日本小児循環器学会雑誌 . 2017.05; 33(3); 234-238
  26. Masatoshi Takagi, Yasuyoshi Ishiwata, Yuki Aoki, Satoshi Miyamoto, Akihiro Hoshino, Kazuaki Mat-sumoto, Akira Nishimura, Mari Tanaka, Masakatsu Yanagimachi, Noriko Mitsuiki, Kohsuke Imai, Hi-rokazu Kanegane, Michiko Kajiwara, Kanako Takikawa, Tsukasa Mae, Osamu Tomita, Junya Fujimura, Masato Yasuhara, Daisuke Tomizawa, Shuki Mizutani, Tomohiro Morio. HLA haploidentical hematopoi-etic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. Int J Hematol. 2017.05; 105(5); 686-691
  27. Manfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, Luigi D Notarangelo, Fulvio Porta, Andrew R Gennery, Mary Slatter, Morton J Cowan, Polina Stepensky, Hamoud Al-Mousa, Daifulah Al-Zahrani, Sung-Yun Pai, Waleed Al Herz, Hubert B Gaspar, Paul Veys, Koichi Oshima, Kohsuke Imai, Hiromasa Yabe, Lenora M Noroski, Nico M Wulffraat, Karl-Walter Sykora, Pere Soler-Palacin, Hideki Muramatsu, Mariam Al Hilali, Despina Moshous, Klaus-Michael Debatin, Catharina Schuetz, Eva-Maria Jacobsen, Ansgar S Schulz, Klaus Schwarz, Alain Fischer, Wilhelm Friedrich, Marina Cavazzana. Reticular dysgen-esis: international survey on clinical presentation, transplantation, and outcome Blood. 2017.05; 129(21); 2928-2938
  28. Fumihiro Goto, Toru Uchiyama, Yumiko Nakazawa, Kohsuke Imai, Toshinao Kawai, Masafumi Onodera. Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome J. Clin. Immunol. 2017.05; 37(4); 347-350
  29. Shirai Y, Goya M,Ohno S, Horie M, Doi S, Isobe M, Hirao K. Elimination of Ventricular Arrhythmia in Catecholaminergic Polymorphic Ventricular Tachycardia by Targeting "Catecholamine-Sensitive Area": A Dominant-Subordinate Relationship between Origin Sites of Bidirectional Ventricular Premature Con-tractions Pacing and Clinical Electrophysiology . 2017.05; 40; 600-604
  30. Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzuwen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano, Michiko Kajiwara, Hirokazu Kanegane, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Yuki Bando, Motohiro Kato, Yasuhide Hayashi, Satoru Miyano, Kohsuke Imai, Seishi Ogawa, Seiji Kojima, Tomohiro Morio. Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J. Allergy Clin. Immunol.. 2017.06; 139(6); 1914-1922
  31. 金兼弘和, 今井耕輔, 森尾友宏. 重症複合免役不全症~その発見から今後の展望~ 日本臨床免役学会会誌. 2017.06; 40(3); 145-154
  32. 長崎啓祐, 窪田拓生, 小林弘典, 澤田浩武, 沼倉周彦, 原田正平, 高澤啓, 南谷幹史, 石井智弘, 岡田賢, 鎌崎穂高, 杉原茂孝, 安達昌功, 田島敏広, 日本小児内分泌学会マス · スクリーニング委員会. 先天性中枢性甲状腺機能低下症の診療状況の全国調査 日本マス · スクリーニング学会誌. 2017.06; 27(1); 9-15
  33. Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017.06; 7(1); 3552
  34. Yoshiko Hosoe-Nagai, Teruo Hidaka, Ayano Sonoda, Yu Sasaki, Kanae Yamamoto-Nonaka, Takuto Seki, Rin Asao, Eriko Tanaka, Juan Alejandro Oliva Trejo, Fumiko Kodama, Miyuki Takagi, Nobuhiro Tada, Takashi Ueno, Ryuichi Nishinakamura, Yasuhiko Tomino, Katsuhiko Asanuma. Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis. Lab. Invest.. 2017.07;
  35. Ayumi Kobayashi, Reiko Takasawa, Kei Takasawa, Masato Nishioka, Masahide Kaneko, Hiroshi Ono, Takanobu Maekawa, Tomohiro Morio, Masayuki Shimohira. An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus. Allergol Int. 2017.07; 66(3); 479-481
  36. Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio. A Stable Mixed Chimera After SCT with RIC in an Infant with I κ B α Hypermorphic Mutation. J. Clin. Immunol.. 2017.07; 37(5); 413-414
  37. Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama. Common Variable Immunodeficiency Caused by FANC Mutations. J. Clin. Immunol. 2017.07; 37(5); 434-444
  38. Akihiro Hoshino, Satoshi Okada, Kenichi Yoshida, Naonori Nishida, Yusuke Okuno, Hiroo Ueno, Motoi Yamashita, Tsubasa Okano, Miyuki Tsumura, Shiho Nishimura, Sonoko Sakata, Masao Kobayashi, Haruna Nakamura, Junji Kamizono, Kanako Mitsui-Sekinaka, Takuya Ichimura, Shouichi Ohga, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Shigeaki Nonoyama, Tomohiro Morio, Hirokazu Kanegane. Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017.07; 140(1); 223-231
  39. Taizo Wada, Satoshi Miyamoto, Hiroyuki Okamoto, Yusuke Matsuda, Tomoko Toma, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Akihiro Yachie. Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation Pediatr Blood Cancer. 2017.07; 64(7);
  40. H Takahashi, J Inoue, K Sakaguchi, M Takagi, S Mizutani, J Inazawa. Autophagy is required for cell survival under L-asparaginase-induced metabolic stress in acute lymphoblastic leukemia cells. Oncogene. 2017.07; 36(30); 4267-4276
  41. Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio. Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases J. Clin. Immunol. 2017.07; 37(5); 486-495
  42. Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio. Flow cytometry-based diagnosis of primary immunodeficiency diseases Allergol Int. 2017.07;
  43. Nishioka M,Takahashi A,Komiya E,Yamaguchi Y,Maeda Y,Doi S. A Case of Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery Combined with Anomalous Right Coronary Artery from the Left Coronary Sinus Pediatric Cardiology and Cardiac Surgery. 2017.07; 4(33); 341-342
  44. Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D Arkwright, Karin R Engelhardt, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher. 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017.08; 8; 964
  45. 堀内真帆, 細川奨, 松村雄, 倉信大, 梶川優介, 森尾友宏, 土井庄三郎. Head-up tilt 試験が失神の診断と治療方針決定に有効だった 1 例 小児科. 2017.08; 58(8); 817-820
  46. Maki Gau, Kei Takasawa. Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy. J. Pediatr. Endocrinol. Metab.. 2017.08; 30(9); 989-993
  47. Masafumi Seki, Shunsuke Kimura, Tomoya Isobe, Kenichi Yoshida, Hiroo Ueno, Yaeko Nakajima-Takagi, Changshan Wang, Lin Lin, Ayana Kon, Hiromichi Suzuki, Yusuke Shiozawa, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Teppei Shimamura, Kyoko Masuda, Hiroshi Kawamoto, Kentaro Ohki, Motohiro Kato, Yuki Arakawa, Katsuyoshi Koh, Ryoji Hanada, Hiroshi Moritake, Masa-haru Akiyama, Ryoji Kobayashi, Takao Deguchi, Yoshiko Hashii, Toshihiko Imamura, Atsushi Sato, Nobu-taka Kiyokawa, Akira Oka, Yasuhide Hayashi, Masatoshi Takagi, Atsushi Manabe, Akira Ohara, Keizo Horibe, Masashi Sanada, Atsushi Iwama, Hiroyuki Mano, Satoru Miyano, Seishi Ogawa, Junko Takita. Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nat Genet. 2017.08; 49(8); 1274-1281
  48. Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima. Clinical characteristics of septo-optic dysplasia accompa-nied by congenital central hypothyroidism in Japan. Clin Pediatr Endocrinol. 2017.09; 26(4); 207-213
  49. 平石知佳, 菱山富之, 高澤啓, 西岡正人, 下平雅之, 川野豊. 家族性地中海熱の二絨毛膜二羊膜双生児例 小児リウマチ. 2017.09; 8(1); 39-45
  50. Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y Patel, Anne Puel, Jacinta Bustamante, Erwin W Gelfand, Jean-Laurent Casanova, Jordan S Orange, Capucine Picard. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations Blood. 2017.09; 130(12); 1456-1467
  51. Komaki M, Numata Y, Morioka C, Honda I, Tooi M, Yokoyama N, Ayame H, Iwasaki K, Taki A, Oshima N, Morita I. Exosomes of human placenta-derived mesenchymal stem cells stimulate angiogenesis. Stem Cell Res Ther. 2017.10; 8(1); 219
  52. Akira Endo, Miko Okamura, Shunsuke Yoshikawa, Yasuhiro Otomo, Tomohiro Morio. Multilateral Func-tional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day. Shock. 2017.10;
  53. Tsubasa Okano, Takuro Nishikawa, Eri Watanabe, Takashi Watanabe, Takehiro Takashima, Tzu-Wen Yeh, Motoi Yamashita, Mari Tanaka-Kubota, Satoshi Miyamoto, Noriko Mitsuiki, Masatoshi Takagi, Yoshifumi Kawano, Yoshiki Mochizuki, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio. Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. Clin. Immunol. 2017.10;
  54. Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi. Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. Brain Dev. 2017.10;
  55. Kei Takasawa, Ryuichi Nakagawa, Shigeru Takishima, Kengo Moriyama, Ken Watanabe, Koji Kiyohara, Takeshi Hasegawa, Masahiro Shimohira, Kenichi Kashimada, Norio Shimizu, Tomohiro Morio. Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virolog-ical detection system and differences in their clinical presentations. Brain Dev. 2017.10;
  56. Yasuyoshi Ishiwata, Masashi Nagata, Kohta Tsuge, Hiromitsu Takahashi, Sayo Suzuki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Masato Yasuhara. Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases. J Clin Pharmacol. 2017.10;
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