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

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome

阿尔波特综合征最新进展:2024年阿尔波特综合征国际研讨会报告

Oates, Thomas M; Barua, Moumita; Gear, Susie; Turner, A Neil; Lennon, Rachel; Kai, Hirofumi; Gale, Daniel P; Aksenova, Marina; Savige, Judith; Gross, Oliver; Massella, Laura; Miner, Jeffrey H; Deltas, Constantinos

Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies

典型和非典型 ADPKD:预测的致病基因变异和人群频率

Varughese, Santosh; Huang, Mary; Savige, Judy

Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease

大多数与遗传性肾病相关的基因都报告有肾外临床特征。

Serrano, Benjamin; Savige, Judy

Erratum to "Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease" [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1196-1204]

勘误:“大多数与遗传性肾病相关的基因均有肾外临床特征的报道”[肾脏国际报告第 10 卷,第 4 期,2025 年 4 月,第 1196-1204 页]

Serrano, Benjamin; Savige, Judy

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families

立陶宛关于COL4A3和COL4A4基因变异与阿尔波特综合征的研究:来自38个家庭的52名个体的临床特征分析

Cerkauskaite-Kerpauskiene, Agne; Navickaite, Milda; Savige, Judy; Mazur, Gabija; Brazdziunaite, Deimante; Azukaitis, Karolis; Slazaite, Gerda; Laurinavicius, Arvydas; Miglinas, Marius; Vainutiene, Vija; Strupaite-Sileikiene, Rasa; Misevice, Ausrine; Mickeviciene, Vaiva; Cerkauskiene, Rimante

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database

在正常数据库中确定单等位基因和双等位基因预测致病性RPE65变异体的群体频率

Abdul, Rahman; Liu, Xiaoyi; Choi, Kirsty; Huang, Mary; Mack, Heather; Savige, Judy

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

Alport基因的致病变异在新加坡多元种族人群中普遍存在,其中华人人群的发生率最高。

Lim, Tina Si Ting; Koh, Chee Teck; Savige, Judith; Ng, Alvin Yu-Jin; Ng, Jun Li; Chin, Hui-Lin; Lim, Weng Khong; Chan, Gek Cher; Yeo, See Cheng; Leow, Esther Hui Min; Yan, Benedict Junrong; Ng, Kar Hui; Zhang, Yaochun

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population

基于对一般人群的生物信息学分析,预测的林奇综合征致病性错配修复(MMR)基因变异的群体频率

Guan, Yiwen; Huang, Mary; Macrae, Finlay; Yin, Xiaoyu; Plazzer, John-Paul; Savige, Judy

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits

合并存在的遗传性肾脏疾病可以解释许多“家族性”IgA肾病病例,其中先证者经活检证实存在系膜IgA沉积。

Li, YuXin; Zhang, Jing; Yin, Zhuo Jun; Zhou, Ziming; Huang, Bocheng; Mahmood, Khalid; Colville, Deb; Barit, David; Auwardt, Russell; Fassett, Robert; Paizis, Kathy; Ierino, Francesco; Pianta, Timothy; Langsford, David; Huang, Mary; Savige, Judy

Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study

澳大利亚原住民群体慢性肾脏病的新型遗传标记:个体和多表型全基因组关联研究

Arunachalam, Vignesh; Lea, Rodney; Hoy, Wendy; Lee, Simon; Mott, Susan; Savige, Judith; Mathews, John D; McMorran, Brendan J; Nagaraj, Shivashankar H