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

EP23 The prevalence of Excessive Femoral Anteversion and its Correlation with Hip Radiographic Parameters in Symptomatic Japanese Patients with Femoroacetabular Impingement and Developmental Dysplasia of the Hip

EP23 股骨前倾角过大在日本有症状的髋关节撞击综合征和发育性髋关节发育不良患者中的患病率及其与髋关节放射学参数的相关性

Yip, Fuyuen Y; Nakashima, Hirotaka; Nishimura, Haruki; Murata, Yoichi; Takada, Shinichiro; Fukuda, Hokuto; Uchida, Soshi; Watanabe, Nobuyuki; Uchida, Soshi; Ohara, Hidetsugu; Tanaka, Hidetatsu; Murakami, Hideki; Kuroyanagi, Gen; Nishimura, Haruki; Yamaura, Kohei; Brady, Alex; Stetzelberger, Vera; Kuhns, Ben; Murata, Yoichi; Uchida, Soshi; Philippon, Marc; Nguyen, Phan Khoa; Uchida, Soshi; Murata, Yoichi; Nakashima, Hirotaka; Takada, Shinichiro; Fukuda, Hokuto; Nishimura, Haruki; Mukohara, Shintaro; Kataoka, Kiminari; Hollenbeck, Justin; Uchida, Soshi; Philippon, Marc; Tateishi, Satoshi; Takahashi, Makoto; Hachisuka, Akiko; Uchida, Soshi; Tamezawa, Kazuhiro; Tateishi, Satoshi; Tamaki, Tatsuya; Uchida, Soshi; Murata, Yoichi; Nakamura, Tomoyuki; Wada, Akifusa; Yanagida, Haruhisa; Takamura, Kazuyuki; Yamaguchi, Toru; Ishikawa, Chinatsu; Uchida, Soshi; Negayama, Takahiro; Nishimura, Haruki; Murata, Yoichi; Nakayama, Keisuke; Takada, Shinichiro; Nakashima, Hirotaka; Fukuda, Hokuto; Sakai, Akinori; Uchida, Soshi; Kubo, Takanori; Uchida, Soshi; Akashi, Yuki; Fukaya, Satoshi; Watanabe, Nobuyuki; Sakai, Hiroaki; Uchida, Soshi; Kuroyanagi, Gen; Takahashi, Makoto; Tateishi, Satoshi; Nagata, Akane; Hachisuka, Akiko; Murata, Youichi; Uchida, Soshi; Shimizu, Taichi; Matsuhsita, Yohei; Murata, Yoichi; Nakashima, Hirotaka; Nakayama, Keisuke; Fukuda, Hokuto; Takada, Shinichiro; Nishimura, Haruki; Shimizu, Taichi; Uchida, Soshi; Takada, Shinichiro; Nakashima, Hirotaka; Murata, Yoichi; Matsushita, Yohei; Uchida, Soshi

Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients

Rolland-Desbuquois 型节段发育不良是由 HSPG2 致病变异引起的,HSPG2 是五名患者共有的创始单倍型

Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno4

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

CHST3基因的双等位基因变异导致巴基斯坦三个家族出现脊椎骨骺发育不良伴关节脱位。

Kausar, Mehran; Ain, Noor Ul; Hayat, Farzana; Fatima, Hunain; Azim, Saad; Ullah, Hazrat; Mushtaq, Murva; Khalid, Sumbal; Hussain, Shahid; Naz, Sadaf; Janjua, Jamal; Amjad, Saad Bin; Baig, Ruqia Mehmood; Makitie, Outi; Qamar, Raheel; Ikegawa, Shiro; Gen, Nishimura; Khor, Chiea Chuen; Foo, Jia Nee; Siddiqi, Saima

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

TMEM53 缺乏会通过 BMP-SMAD 信号失调导致一种此前未知的硬化性骨病

Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-Yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa S

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

患有脊椎骨骺端发育不良的人类核糖体病患者中出现新型 RPL13 变异和不同的临床表现

Alice Costantini, Jessica J Alm, Francesca Tonelli #, Helena Valta #, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlin

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

新生儿暂时性甲状旁腺功能亢进症中的新型 TRPV6 突变

Yoshiro Suzuki, Hirotake Sawada, Tomoko Tokumasu, Shigeru Suzuki, Shinsuke Ninomiya, Masaru Shirai, Tokuo Mukai, Claire T Saito, Gen Nishimura, Makoto Tominaga

Stereotactic body radiotherapy in patients with lung tumors composed of mainly ground-glass opacity

立体定向放射治疗主要针对由磨玻璃密度影组成的肺部肿瘤患者

Onishi, Hiroshi; Shioyama, Yoshiyuki; Matsumoto, Yasuo; Shibamoto, Yuta; Miyakawa, Akifumi; Suzuki, Gen; Nishimura, Yasumasa; Sasaki, Ryohei; Miyawaki, Daisuke; Kuriyama, Kengo; Komiyama, Takafumi; Marino, Kan; Aoki, Shinichi; Saito, Ryo; Araya, Masayuki; Maehata, Yoshiyasu; Nonaka, Hotaka; Tominaga, Licht; Saito, Masahide; Sano, Naoki; Yamada, Shogo

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

一名患有 Maroteaux 型肢端发育不良症的患者出现新的 NPR2 突变 (p.Arg388Gln)

Naoko Amano, Hiroshi Kitoh, Satoshi Narumi, Gen Nishimura, Tomonobu Hasegawa

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

TRIP11 的低效突变会导致牙软骨发育不良

Anika Wehrle ,Tomasz M Witkos ,Sheila Unger ,Judith Schneider ,John A Follit ,Johannes Hermann ,Tim Welting ,Virginia Fano ,Marja Hietala ,Nithiwat Vatanavicharn ,Katharina Schoner ,Jürgen Spranger ,Miriam Schmidts ,Bernhard Zabel ,Gregory J Pazour ,Agnes Bloch-Zupan ,Gen Nishimura ,Andrea Superti-Furga ,Martin Lowe ,Ekkehart Lausch

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

裂手/裂足畸形的综合临床和分子研究:鉴定出两个可能的候选基因(LRP6 和 UBA2)

Kaori Yamoto ,Hirotomo Saitsu ,Gen Nishimura ,Rika Kosaki ,Shinichiro Takayama ,Nobuhiko Haga ,Hidefumi Tonoki ,Akihisa Okumura ,Emiko Horii ,Nobuhiko Okamoto ,Hiroshi Suzumura ,Shiro Ikegawa ,Fumiko Kato ,Yasuko Fujisawa ,Eiko Nagata ,Shuji Takada ,Maki Fukami ,Tsutomu Ogata