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

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report

皮尔森综合征伴多发性肾小管扩张,易误诊为常染色体隐性多囊肾病:病例报告

Yamamura-Miyazaki, Natsumi; Michigami, Toshimi; Okamoto, Nobuhiko; Iida, Takaya; Yanagi, Kumiko; Kaname, Tadashi; Fukuda, Sayaka; Baba, Minato; Fujiwara, Kaori; Kubota, Takuo

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

日本首例CLN5疾病病例报告:通过全基因组测序鉴定出一种新的纯合致病变异

Nishi, Eriko; Yanagi, Kumiko; Shima, Morimasa; Yamazaki, Naoko; Kawato, Kazumi; Narita, Aya; Sakai, Norio; Okamoto, Nobuhiko; Yanagihara, Keiko; Kaname, Tadashi

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序能够提供高诊断率,并为智力障碍和发育迟缓的病因学研究提供新的见解。

Hamanaka, Kohei; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Koshimizu, Eriko; Uchiyama, Yuri; Tsuchida, Naomi; Seyama, Rie; Sakamoto, Masamune; Iwama, Kazuhiro; Nishimura, Naoto; Utsuno, Yasuhiro; Fu, Li; Takizawa, Marina; Liang, Qiaowei; Itai, Toshiyuki; Saida, Ken; Ohori, Sachiko; Kameyama, Shinichi; Fukuda, Hiromi; Hayashi, Yukina; Inoue, Yuta; Goto, Tomohide; Ichikawa, Kazushi; Kuki, Ichiro; Fukuoka, Masataka; Kim, Kiyohiro; Shiohama, Tadashi; Shimoda, Konomi; Otsuka, Kosuke; Ueda, Yuki; Cho, Kazutoshi; Yuge, Kotaro; Tachi, Nobutada; Yoshida, Masaki; Daida, Atsuro; Hirasawa, Kyoko; Yanagishita, Tomoe; Yamamoto, Toshiyuki; Shirai, Kentaro; Mehr, Tammar Fixler; Fattal-Valevski, Aviva; Lev, Dorit; Yokoyama, Haruna; Iwabuchi, Emi; Saito, Yoshihiko; Miura, Masaki; Sugai, Kenji; Ishiyama, Akihiko; Sasaki, Masayuki; Watanabe, Yoshihiro; Takanashi, Jun-Ichi; Kim, Chong Ae; Yokochi, Kenji; Tohyama, Jun; Mori, Tatsuo; Izumi, Yuishin; Hasegawa, Yuiko; Okamoto, Nobuhiko; Ikeda, Takahiro; Osaka, Hitoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Kato, Mitsuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi

Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications

双等位基因TEDC1变异会导致一种新的综合征,其特征是严重的生长发育障碍和内分泌并发症。

Miyake, Noriko; Shiga, Kentaro; Hasegawa, Yuya; Iwabuchi, Chisato; Shiroshita, Kohei; Kobayashi, Hiroshi; Takubo, Keiyo; Velilla, Fabien; Maeno, Akiteru; Kawasaki, Toshihiro; Imai, Yukiko; Sakai, Noriyoshi; Hirose, Tomonori; Fujita, Atsushi; Takahashi, Hidehisa; Okamoto, Nobuhiko; Enokizono, Mikako; Iwasaki, Shiho; Ito, Shuichi; Matsumoto, Naomichi

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature

基于纳米孔测序的表观遗传标记在Sotos综合征诊断中的应用价值

Mizuguchi, Takeshi; Okamoto, Nobuhiko; Hara, Taiki; Nishimura, Naoto; Sakamoto, Masamune; Fu, Li; Uchiyama, Yuri; Tsuchida, Naomi; Hamanaka, Kohei; Koshimizu, Eriko; Fujita, Atsushi; Misawa, Kazuharu; Nakabayashi, Kazuhiko; Miyatake, Satoko; Matsumoto, Naomichi

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis

在无颅缝早闭但具有类似努南综合征表型的个体中,ERF基因存在错义突变和截短突变。

Goto, Yusuke; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Ogata, Tsutomu; Kurosawa, Kenji; Ohashi, Hirofumi; Matsubara, Yoichi; Abe, Taiki; Kikuchi, Atsuo; Aoki, Yoko

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

日本先天性糖基化障碍患者的临床和分子特征

Okamoto, Nobuhiko; Kadoya, Machiko; Wada, Yoshinao

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing

通过全外显子组测序诊断的一例巴雷特瑟-温特脑额面综合征病例

Suga, Kenichi; Sato, Hiroki; Suzue, Masashi; Honma, Yukako; Hayabuchi, Yasunobu; Nakagawa, Ryuji; Shinomiya, Kayo; Okamoto, Nobuhiko; Inoue, Yuta; Tsuchida, Naomi; Matsumoto, Naomichi; Morino, Hiroyuki; Izumi, Yuishin; Urushihara, Maki

A case of congenital hypopituitarism harboring a nonsense variant in the LHX4 gene

一例先天性垂体功能减退症,其LHX4基因存在无义突变

Koizumi, Mikiko; Etani, Yuri; Kinoshita, Saori; Yamazaki, Natsuko; Okamoto, Nobuhiko; Ida, Shinobu; Kawai, Masanobu

ACNP 63rd Annual Meeting: Keyword Index

ACNP 第 63 届年会:关键词索引

Miyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi