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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome

两名患有先天性重症肌无力综合征的同胞携带复合杂合CHAT基因突变,包括一个错义突变和一个剪接位点变异。

Kikuchi, Shin; Wada, Nobuhiro; Mariya, Tasuku; Ishikawa, Aki; Kihara, Minako; Furukawa, Sawako; Kato, Hidekazu; Nishio, Yosuke; Ogi, Tomoo; Ohsaki, Yuki; Tachi, Nobutada

Early discontinuation of steroid treatment in children with abdominal pain due to IgA vasculitis

对因IgA血管炎引起的腹痛患儿尽早停止类固醇治疗

Kambara, Sumika; Nishio, Nobuhiro; Sugiyama, Yuichiro; Nishio, Yosuke; Takamoto, Yukina; Kitai, Fumie; Takahashi, Yuma; Hayashi, Nozomi; Haruta, Kazunori; Kondo, Maki; Oike, Naoko; Miwa, Takeshi; Watanabe, Nobuhiro; Omori, Marei; Kinoshita, Fumie; Furukawa, Taiki; Kawada, Jun-Ichi; Kidokoro, Hiroyuki; Sato, Yoshiaki; Takahashi, Yoshiyuki

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.

新型 FBN1 内含子变异通过框内外显子跳跃导致孤立性晶状体异位

Shimizu Norihiro, Mashimo Yoichi, Yokouchi Hirotaka, Nishio Yosuke, Sawai Setsu, Ichikawa Tomohiko, Ogi Tomoo, Baba Takayuki, Onouchi Yoshihiro

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications

Beckwith-Wiedermann 综合征谱系中新发 CDKN1C 变异伴非典型并发症

Moriura, Yuri; Nishio, Yosuke; Ichimura, Shintaro; Noda, Haruka; Tanahashi, Yoshihiro; Yamamoto, Hikaru; Nakazawa, Yuka; Oso, Taichi; Sato, Yoshiaki; Takenouchi, Toshiki; Saitoh, Shinji; Muramatsu, Yukako; Ogi, Tomoo

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

MYCN in human development and diseases

MYCN 在人类发育和疾病中的作用

Nishio, Yosuke; Kato, Kohji; Oishi, Hisashi; Takahashi, Yoshiyuki; Saitoh, Shinji

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

一例伴有新型MAP3K7变异的严重心脊椎腕面综合征

Nyuzuki, Hiromi; Ozawa, Junichi; Nagasaki, Keisuke; Nishio, Yosuke; Ogi, Tomoo; Tohyama, Jun; Ikeuchi, Takeshi

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant

Bryant-Li-Bhoj 综合征新生儿肌阵挛与一种新的 H3F3A 变异体相关

Hojo, Moemi; Soma, Noriko; Yamada, Kei; Kobayashi, Yu; Miura, Masaki; Fujii, Hitomi; Nyuzuki, Hiromi; Nishio, Yosuke; Oso, Taichi; Ogi, Tomoo; Ikeuchi, Takeshi; Tohyama, Jun

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

对 177 例未确诊疾病的儿科患者进行全外显子组分析

Narita, Kotaro; Muramatsu, Hideki; Narumi, Satoshi; Nakamura, Yuji; Okuno, Yusuke; Suzuki, Kyogo; Hamada, Motoharu; Yamaguchi, Naoya; Suzuki, Atsushi; Nishio, Yosuke; Shiraki, Anna; Yamamori, Ayako; Tsumura, Yusuke; Sawamura, Fumi; Kawaguchi, Masahiro; Wakamatsu, Manabu; Kataoka, Shinsuke; Kato, Kohji; Asada, Hideyuki; Kubota, Tetsuo; Muramatsu, Yukako; Kidokoro, Hiroyuki; Natsume, Jun; Mizuno, Seiji; Nakata, Tomohiko; Inagaki, Hidehito; Ishihara, Naoko; Yonekawa, Takahiro; Okumura, Akihisa; Ogi, Tomoo; Kojima, Seiji; Kaname, Tadashi; Hasegawa, Tomonobu; Saitoh, Shinji; Takahashi, Yoshiyuki