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

Genetic variants predisposing to an increased risk of kidney stone disease.

导致肾结石疾病风险增加的基因变异

Lovegrove Catherine E, Goldsworthy Michelle, Haley Jeremy, Smelser Diane, Gorvin Caroline, Hannan Fadil M, Mahajan Anubha, Suri Mohnish, Sadeghi-Alavijeh Omid, Moochhala Shabbir H, Gale Daniel P, Carey David, Holmes Michael V, Furniss Dominic, Thakker Rajesh V, Howles Sarah A

Causal inference in health and disease: a review of the principles and applications of Mendelian randomization

健康与疾病中的因果推断:孟德尔随机化原理及应用综述

Lovegrove, Catherine E; Howles, Sarah A; Furniss, Dominic; Holmes, Michael V

Matched pair analysis of wide versus narrow focus during shockwave lithotripsy for urolithiasis

泌尿系结石体外冲击波碎石术中宽焦点与窄焦点配对分析

Sharp, Anna J; Lovegrove, Catherine E; Sreekumar, Roshan; Spencer, Mandy; Turney, Benjamin W; Howles, Sarah A

Urology never events in the United Kingdom: A retrospective 10-year review

英国泌尿科不良事件:一项回顾性10年研究

Loyala, Jerocin Vishani; Ang, Andrew; Down, Billy; Howles, Sarah A

Mucinous Adenocarcinoma of the Prostate With Normal Prostate-Specific Antigen Levels, Pulmonary Metastasis, and the Absence of Nodal Disease: A Case Report

前列腺特异性抗原水平正常、肺转移、无淋巴结转移的前列腺黏液腺癌:病例报告

Khokhar, Arham A; Howles, Sarah A; Leiblich, Aaron W; Samdani, Khubaib; Ahmed, Mubariz

Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations

中心性肥胖通过影响血清钙浓度增加肾结石风险

Lovegrove, Catherine E; Bešević, Jelena; Wiberg, Akira; Lacey, Ben; Littlejohns, Thomas J; Allen, Naomi E; Goldsworthy, Michelle; Kim, Jihye; Hannan, Fadil M; Curhan, Gary C; Turney, Ben W; McCarthy, Mark I; Mahajan, Anubha; Thakker, Rajesh V; Holmes, Michael V; Furniss, Dominic; Howles, Sarah A

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

利用十万基因组计划数据的负担分析发现罕见病基因关联

Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F; Jacobsen, Julius Ob; Arno, Gavin; Behr, Elijah R; Benson, Katherine A; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R; Burley, Kate; Chan, Li F; Chinnery, Patrick; Conlon, Peter; Costa, Marcos; Davidson, Alice E; Dawson, Sally J; Elhassan, Elhussein; Flanagan, Sarah E; Futema, Marta; Gale, Daniel P; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R; Hambleton, Sophie; Hicks, Amy R; Houlden, Henry; Houlston, Richard S; Howles, Sarah A; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah; Morsy, Heba; Mumford, Andrew D; Newman, William G; Neatu, Ruxandra; O'Toole, Edel A; Ong, Albert Cm; Pagnamenta, Alistair T; Rahman, Shamima; Rajan, Neil; Robinson, Peter N; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A; Shovlin, Claire L; Taylor, Jenny C; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; Turnbull, Clare; van Eerde, Albertien M; Ware, James S; Watts, Laura M; Webster, Andrew R; Westbury, Sarah K; Zheng, Sean L; Caulfield, Mark; Smedley, Damian

Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones

外显子组测序在两个肾结石家族中发现了一种线粒体ATP-Mg/Pi载体SLC25A25的致病变异。

Jabalameli, M Reza; Fitzpatrick, Fiona M; Colombo, Roberto; Howles, Sarah A; Leggatt, Gary; Walker, Valerie; Wiberg, Akira; Kunji, Edmund R S; Ennis, Sarah

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)

衔接蛋白 2σ 亚基 (AP2S1) 基因突变分析:寻找常染色体显性低钙血症 3 型 (ADH3)

Rogers, Angela; Nesbit, M Andrew; Hannan, Fadil M; Howles, Sarah A; Gorvin, Caroline M; Cranston, Treena; Allgrove, Jeremy; Bevan, John S; Bano, Gul; Brain, Caroline; Datta, Vipan; Grossman, Ashley B; Hodgson, Shirley V; Izatt, Louise; Millar-Jones, Lynne; Pearce, Simon H; Robertson, Lisa; Selby, Peter L; Shine, Brian; Snape, Katie; Warner, Justin; Thakker, Rajesh V

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

AP2S1基因突变导致家族性低钙尿性高钙血症3型

Nesbit, M Andrew; Hannan, Fadil M; Howles, Sarah A; Reed, Anita A C; Cranston, Treena; Thakker, Clare E; Gregory, Lorna; Rimmer, Andrew J; Rust, Nigel; Graham, Una; Morrison, Patrick J; Hunter, Steven J; Whyte, Michael P; McVean, Gil; Buck, David; Thakker, Rajesh V