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

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported

全球原发性高草酸尿症的遗传患病率估计值高于先前报道的水平。

期刊:Clinical Kidney Journal
影响因子:4.6
doi:10.1093/ckj/sfaf194
Mandrile, Giorgia; Rumsby, Gill; Sciannameo, Veronica; Cogal, Andrea G; Glover, Michelle; Lieske, John C; Harris, Peter C
发表日期：2025
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Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

在基于细胞的平台上对人类 AGT1 中的氨基酸替换进行功能分析，以支持原发性高草酸尿症 1 型的诊断

期刊:Journal of Biological Chemistry
影响因子:3.9
doi:10.1016/j.jbc.2025.110494
Gatticchi Leonardo, Bellezza Ilaria, Rumsby Gill, Glover Michelle, Cellini Barbara
细胞生物学
Human
发表日期：2025
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A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT

AGXT基因中p.Ile279Thr替换的致病性取决于一种次要单倍型变异。

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70052
Ruta, Luana; Cogal, Andrea G; Pampalone, Gioena; Sas, David J; Lieske, John C; Rumsby, Gill; Cellini, Barbara; Harris, Peter C
发表日期：2025
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SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

SMART Stone 多学科团队 (MDT) 和患者护理：成人高危肾结石患者诊疗路径建议

期刊:World Journal of Urology
影响因子:2.9
doi:10.1007/s00345-025-05602-8
Somani, Bhaskar; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Rumsby, Gill; Acquaviva, Cecile; Bhojani, Naeem; Bin Hamri, Saeed; Bres-Niewada, Ewa; Davis, Niall F; Fuster, Daniel G; Garrelfs, Sander F; Gauhar, Vineet; Hamamoto, Shuzo; Juliebø-Jones, Patrick; Leporati, Marta; Letavernier, Emmanuel; Takayama, Tatsuya; Tzelves, Lazaros; Yuen, Steffi Kar Kei; Ferraro, Pietro Manuel
肾结石
毒理研究
发表日期：2025
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Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

更正：SMART 结石多学科团队 (MDT) 和患者护理：成人高危肾结石患者路径建议

期刊:World Journal of Urology
影响因子:2.9
doi:10.1007/s00345-025-06059-5
Somani, Bhaskar; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Rumsby, Gill; Acquaviva, Cecile; Bhojani, Naeem; Bin Hamri, Saeed; Bres-Niewada, Ewa; Davis, Niall F; Fuster, Daniel G; Garrelfs, Sander F; Gauhar, Vineet; Hamamoto, Shuzo; Juliebø-Jones, Patrick; Leporati, Marta; Letavernier, Emmanuel; Takayama, Tatsuya; Tzelves, Lazaros; Yuen, Steffi Kar Kei; Ferraro, Pietro Manuel
肾结石
毒理研究
发表日期：2025
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Genetic assessment in primary hyperoxaluria: why it matters

原发性高草酸尿症的基因评估：为什么它如此重要

期刊:Pediatric Nephrology
影响因子:2.6
doi:10.1007/s00467-022-05613-2
Mandrile, Giorgia; Beck, Bodo; Acquaviva, Cecile; Rumsby, Gill; Deesker, Lisa; Garrelfs, Sander; Gupta, Asheeta; Bacchetta, Justine; Groothoff, Jaap
发表日期：2023
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End Points for Clinical Trials in Primary Hyperoxaluria

原发性高草酸尿症临床试验的终点

期刊:Clinical Journal of the American Society of Nephrology
影响因子:7.1
doi:10.2215/CJN.13821119
Milliner, Dawn S; McGregor, Tracy L; Thompson, Aliza; Dehmel, Bastian; Knight, John; Rosskamp, Ralf; Blank, Melanie; Yang, Sixun; Fargue, Sonia; Rumsby, Gill; Groothoff, Jaap; Allain, Meaghan; West, Melissa; Hollander, Kim; Lowther, W Todd; Lieske, John C
发表日期：2020
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Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis

1型神经纤维瘤病合并肾上腺癌：病例报告及DNA分析

期刊:Endocrinology, Diabetes and Metabolism Case Reports
影响因子:0.7
doi:10.1530/EDM-14-0074
Menon, Ravi Kumar; Ferrau, Francesco; Kurzawinski, Tom R; Rumsby, Gill; Freeman, Alexander; Amin, Zahir; Korbonits, Márta; Chung, Teng-Teng L L
肿瘤
肿瘤免疫
免疫/内分泌
发表日期：2014
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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

CYP11B1基因中七个新突变的功能后果：四个突变与非经典型11β-羟化酶缺乏症相关，三个突变导致经典型11β-羟化酶缺乏症。

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/jc.2009-0651
Parajes, Silvia; Loidi, Lourdes; Reisch, Nicole; Dhir, Vivek; Rose, Ian T; Hampel, Rainer; Quinkler, Marcus; Conway, Gerard S; Castro-Feijóo, Lidia; Araujo-Vilar, David; Pombo, Manuel; Dominguez, Fernando; Williams, Emma L; Cole, Trevor R; Kirk, Jeremy M; Kaminsky, Elke; Rumsby, Gill; Arlt, Wiebke; Krone, Nils
发表日期：2010
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Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells

在稳定转化的中国仓鼠卵巢细胞中重建人肝细胞乙醛酸代谢途径

期刊:Biochemical Journal
影响因子:4.3
doi:10.1042/BJ20051397
Behnam, Joseph T; Williams, Emma L; Brink, Susanne; Rumsby, Gill; Danpure, Christopher J
代谢
细胞生物学
发表日期：2006
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