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

Pediatric P-ANCA vasculitis following COVID-19

新冠肺炎后儿童P-ANCA血管炎

Fireizen, Yaron; Shahriary, Cyrus; Imperial, Maria E; Randhawa, Inderpal; Nianiaris, Nastasia; Ovunc, Bugsu

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

ARHGDIA 突变通过缺陷的 RHO GTPase 信号传导导致肾病综合征

Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B Beck, Olivier Gribouval, Weibin Zhou, Katrina A Diaz, Sivakumar Natarajan, Roger C Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S Schoeb, Bugsu Ovunc, Yaacov Frishberg, Neveen A Soliman, Hanan

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients

对全球先天性肾病综合征患者队列中的NPHS1基因进行突变分析

Ovunc, Bugsu; Ashraf, Shazia; Vega-Warner, Virginia; Bockenhauer, Detlef; Elshakhs, Neveen A Soliman; Joseph, Mark; Hildebrandt, Friedhelm

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

人类患者的 COQ6 突变会导致肾病综合征和神经性耳聋

Saskia F Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis J Sloan, Ziming Ji, Letian X Xie, Leonardo Salviati, Toby W Hurd, Virginia Vega-Warner, Paul D Killen, Yehoash Raphael, Shazia Ashraf, Bugsu Ovunc, Dominik S Schoeb, Heather M McLaughlin, Rannar Airik, Christopher N Vlangos, Rasheed

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

外显子组测序揭示cubilin基因突变是蛋白尿的单基因病因

Ovunc, Bugsu; Otto, Edgar A; Vega-Warner, Virginia; Saisawat, Pawaree; Ashraf, Shazia; Ramaswami, Gokul; Fathy, Hanan M; Schoeb, Dominik; Chernin, Gil; Lyons, Robert H; Yilmaz, Engin; Hildebrandt, Friedhelm

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

WT1突变引起的肾病综合征的基因型/表型相关性

Chernin, Gil; Vega-Warner, Virginia; Schoeb, Dominik S; Heeringa, Saskia F; Ovunc, Bugsu; Saisawat, Pawaree; Cleper, Roxana; Ozaltin, Fatih; Hildebrandt, Friedhelm

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

一项针对全球先天性肾病综合征(CNS)患者的研究发现了19种新的NPHS1突变。

Schoeb, Dominik S; Chernin, Gil; Heeringa, Saskia F; Matejas, Verena; Held, Susanne; Vega-Warner, Virginia; Bockenhauer, Detlef; Vlangos, Christopher N; Moorani, Khemchand N; Neuhaus, Thomas J; Kari, Jameela A; MacDonald, James; Saisawat, Pawaree; Ashraf, Shazia; Ovunc, Bugsu; Zenker, Martin; Hildebrandt, Friedhelm