日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant

两例类似 CLIPPERS 综合征的病例共享一个功能减弱的 UNC13D 变异

Sagawa, Hirotaka; Hirata, Kosei; Katayama, Saori; Shibata, Hirofumi; Toyofuku, Etsushi; Kaneko, Shuya; Katata, Yu; Takezawa, Yusuke; Uematsu, Mitsugu; Onishi, Iichiroh; Yamazaki, Yuto; Hattori, Takaaki; Yamamoto, Masahide; Shimizu, Masaki; Imai, Kohsuke; Yasumi, Takahiro; Morio, Tomohiro; Yokota, Takanori; Sasahara, Yoji; Kanegane, Hirokazu

A practical tip for estimating skeletal maturation in children aged < 3 years using humeral ossification on chest radiographs: A retrospective study

利用胸部X光片上肱骨骨化情况评估3岁以下儿童骨骼成熟度的实用技巧:一项回顾性研究

Tsuru, Tomohiro; Inoue, Shota; Edo, Hiromi; Suzuki, Shuichi; Imai, Kohsuke; Nozaki, Taiki; Shinmoto, Hiroshi

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

精细定位导致常染色体显性高IgE综合征的杂合IL6ST无义变异

Ashihara Kosuke, Asano Takaki, Takeuchi Kanako, Noma Kosuke, Tsumura Miyuki, Wang Wenjie, Lei Wei-Te, Higo Hisao, Kubo Toshio, Mizoguchi Yoko, Karakawa Shuhei, Cobat Aurélie, Conil Clément, Toyofuku Etsushi, Sekine Akimasa, Imai Kohsuke, Bogunovic Dusan, Casanova Jean-Laurent, Ku Cheng-Lung, Béziat Vivien, Okada Satoshi

Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations

DNM1L突变引起的线粒体功能障碍导致的心脏功能障碍,可通过人类iPS细胞进行评估

Osawa, Madori T; Fujita, Yasunori; Kagami, Kazuki; Ito, Masataka; Tamura, Yoshiteru; Tateishi, Shoichiro; Take, Junya; Hirose, Fumi; Hagiwara, Hidetoshi; Imai, Kohsuke; Yoshinaga, Daisuke; Baba, Shiro; Osawa, Mitsujiro; Harashima, Hiroko; Murayama, Kei; Akioka, Yuko; Ohtake, Akira; Suzuki, Ikuro; Adachi, Takeshi; Yamazaki, Takeru; Arai, Satoshi; Matsumoto, Shiro; Kitaguchi, Tetsuya; Saito, Megumu K; Ohsawa, Ikuroh; Nonoyama, Shigeaki

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan

日本集中快速基因诊断联合免疫缺陷

Kato, Tamaki; Ogura, Yumi; Kamae, Chikako; Yeh, Tzu-Wen; Okano, Tsubasa; Take, Junya; Mitsui-Sekinaka, Kanako; Moriya, Kunihiko; Reichenbach, Janine; Vignesh, Pandiarajan; Rawat, Amit; Singh, Surjit; Takagi, Masatoshi; Kanegane, Hirokazu; Morio, Tomohiro; Ohara, Osamu; Imai, Kohsuke; Nonoyama, Shigeaki

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

与多核苷酸激酶 3'-磷酸酶 (PNKP) 缺乏相关的 B 细胞免疫缺陷

Takada Sanami, Okano Tsubasa, Tanita Kay, Tsukada Kaima, Watanabe Masato, Hijikata Atsushi, Naruto Takuya, Yeh Tzu-Wen, Kasuga Saki, Tokimasa Sadao, Taniguchi-Ikeda Mariko, Ogata Reina, Ikeda Azusa, Goto Tomohide, Osaka Hitoshi, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, van der Burg Mirjam, Shimada Mikio, Kanegane Hirokazu

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

用于先天性免疫缺陷的非靶向蛋白质组学新生儿筛查平台

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

Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study

在日本原发性免疫缺陷病患者中,每周或每两周皮下注射20%免疫球蛋白(Ig20Gly)的药代动力学、安全性和有效性:一项3期开放标签研究

Kanegane, Hirokazu; Endo, Akifumi; Okada, Satoshi; Ohnishi, Hidenori; Ishimura, Masataka; Nishikomori, Ryuta; Imai, Kohsuke; Nonoyama, Shigeaki; Muramatsu, Hideki; Wada, Taizo; Kuga, Atsushi; Sakamoto, Ko; Russo-Schwarzbaum, Sharon; Chu, Liang-Hui; McCoy, Barbara; Li, Zhaoyang; Yel, Leman

Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years

日本大阪基于多重实时PCR技术的新生儿重症原发性免疫缺陷和脊髓性肌萎缩症筛查:3年后的结果

Kimizu, Tomokazu; Nozaki, Masatoshi; Okada, Yousuke; Sawada, Akihisa; Morisaki, Misaki; Fujita, Hiroshi; Irie, Akemi; Matsuda, Keiko; Hasegawa, Yuiko; Nishi, Eriko; Okamoto, Nobuhiko; Kawai, Masanobu; Imai, Kohsuke; Suzuki, Yasuhiro; Wada, Kazuko; Mitsuda, Nobuaki; Ida, Shinobu

Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report

T细胞急性淋巴细胞白血病患者早期强化治疗后颅内残留病灶:病例报告

Nagamatsu, Yuichi; Isoda, Takeshi; Inaji, Motoki; Oyama, Jun; Niizato, Daiki; Tomomasa, Dan; Mitsuiki, Noriko; Yamashita, Motoi; Kamiya, Takahiro; Imai, Kohsuke; Kanegane, Hirokazu; Morio, Tomohiro; Takagi, Masatoshi