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

Characterizing persistent Post-COVID-19 vaccination symptoms using MedDRA system organ class and preferred term classifications

利用MedDRA系统器官分类和首选术语分类对COVID-19疫苗接种后持续存在的症状进行表征

Fujisawa, Akinori; Kodama, Shinichiro; Konishi, Nafuko; Ueda, Jun; Kitagawa, Akiko; Okada, Eri; Miyokawa, Mariko; Hirai, Yuriko; Nakatani, Eiji; Fukushima, Masanori

Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation

最初怀疑为常染色体显性多囊肾病,最终确诊为由UMOD基因突变引起的常染色体显性肾小管间质性肾病。

Usui, Toshiaki; Ishibashi, Shun; Hattori, Akihisa; Nomura, Soichiro; Nakajima, Kentaro; Harada, Takuya; Akiyama, Tomoki; Tsunoda, Ryoya; Okada, Eri; Morito, Naoki; Mase, Kaori; Saito, Chie; Usui, Joichi; Kai, Hirayasu; Morisada, Naoya; Nozu, Kandai; Yamagata, Kunihiro

Renal Prognostic Identification in Patients With Autosomal Dominant Polycystic Kidney Disease by Whole Genome Sequencing: A Prospective, Observational Study

通过全基因组测序识别常染色体显性多囊肾病患者的肾脏预后:一项前瞻性观察研究

Kai, Hirayasu; Usui, Joichi; Okada, Eri; Ishii, Ryota; Sato, Taka-Aki; Tamura, Takuro; Nishiyama, Hiroyuki; Yamagata, Kunihiro

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort

日本人群中常染色体显性遗传性肾小管间质性肾病的表型和基因型

Tanaka, Yu; Nagano, China; Sakakibara, Nana; Okada, Eri; Aoyama, Shuhei; Kimura, Yuka; Inoki, Yuta; Ichikawa, Yuta; Ueda, Chika; Kitakado, Hideaki; Horinouchi, Tomoko; Yamamura, Tomohiko; Ishimori, Shingo; Iijima, Kazumoto; Nozu, Kandai; Morisada, Naoya

Renal Hemodynamic and Functional Changes in Patients with ADPKD

ADPKD患者的肾脏血流动力学和功能变化

Ishii, Ryota; Kai, Hirayasu; Nakajima, Kentaro; Harada, Takuya; Akiyama, Tomoki; Okada, Eri; Tsunoda, Ryoya; Usui, Toshiaki; Mase, Kaori; Morito, Naoki; Saito, Chie; Usui, Joichi; Yamagata, Kunihiro

Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis

通过体外剪接分析评估WT1内含子变异体的致病性

Inoue, Seiya; Kondo, Atsushi; Inoki, Yuta; Ichikawa, Yuta; Tanaka, Yu; Ueda, Chika; Kitakado, Hideaki; Suzuki, Ryota; Okada, Eri; Sakakibara, Nana; Horinouchi, Tomoko; Nozu, Kandai

Corrigendum to "Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease"Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866

更正“检测临床病理诊断为常染色体显性遗传性肾小管间质性肾病患者的MUC1变异”,《肾脏国际报告》,第7卷,第4期,2022年4月,第857-866页

Okada, Eri; Morisada, Naoya; Horinouchi, Tomoko; Fujii, Hideki; Tsuji, Takayuki; Miura, Masayoshi; Katori, Hideyuki; Kitagawa, Masashi; Morozumi, Kunio; Toriyama, Takanobu; Nakamura, Yuki; Nishikomori, Ryuta; Nagai, Sadayuki; Kondo, Atsushi; Aoto, Yuya; Ishiko, Shinya; Rossanti, Rini; Sakakibara, Nana; Nagano, China; Yamamura, Tomohiko; Ishimori, Shingo; Usui, Joichi; Yamagata, Kunihiro; Iijima, Kazumoto; Imasawa, Toshiyuki; Nozu, Kandai

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

LAMB2相关疾病的临床特征和基因型-表型相关性的系统评价

Suzuki, Ryota; Sakakibara, Nana; Ichikawa, Yuta; Kitakado, Hideaki; Ueda, Chika; Tanaka, Yu; Okada, Eri; Kondo, Atsushi; Ishiko, Shinya; Ishimori, Shingo; Nagano, China; Yamamura, Tomohiko; Horinouchi, Tomoko; Okamoto, Takayuki; Nozu, Kandai

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

COL4A5基因中倒数第二个或第三个核苷酸处的外显子单核苷酸变异导致异常剪接

Okada, Eri; Aoto, Yuya; Horinouchi, Tomoko; Yamamura, Tomohiko; Ichikawa, Yuta; Tanaka, Yu; Ueda, Chika; Kitakado, Hideaki; Kondo, Atsushi; Sakakibara, Nana; Suzuki, Ryota; Usui, Joichi; Yamagata, Kunihiro; Iijima, Kazumoto; Nozu, Kandai

All reported non-canonical splice site variants in GLA cause aberrant splicing

所有已报道的GLA非典型剪接位点变异都会导致异常剪接。

Okada, Eri; Horinouchi, Tomoko; Yamamura, Tomohiko; Aoto, Yuya; Suzuki, Ryota; Ichikawa, Yuta; Tanaka, Yu; Masuda, Chika; Kitakado, Hideaki; Kondo, Atsushi; Sakakibara, Nana; Ishiko, Shinya; Nagano, China; Ishimori, Shingo; Usui, Joichi; Yamagata, Kunihiro; Matsuo, Masafumi; Nozu, Kandai