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

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

以色列透析人群中 APOL1 G1 和 G2 变体的多民族患病率

Ben-Ruby Dror, Atias-Varon Danit, Kagan Maayan, Chowers Guy, Shlomovitz Omer, Slabodnik-Kaner Keren, Mano Neta, Avayou Shany, Atsmony Yariv, Levin Dana, Dotan Edo, Calderon-Margalit Ronit, Shnaider Alla, Haviv Yosef S, Birk Ohad S, Hadar Noam, Anikster Yair, Berar Yanay Noa, Chernin Gil, Kruzel-Davila Etty, Beckerman Pazit, Rozen-Zvi Benaya, Doctor Gabriel T, Stanescu Horia C, Shemer Revital, Pras Elon, Reznik-Wolf Haike, Nahum Ayelet Hashahar, Dominissini Dan, Skorecki Karl, Vivante Asaf

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome

AHI1基因的常见风险变异与儿童类固醇敏感性肾病综合征相关

Downie, Mallory L; Gupta, Sanjana; Voinescu, Catalin; Levine, Adam P; Sadeghi-Alavijeh, Omid; Dufek-Kamperis, Stephanie; Cao, Jingjing; Christian, Martin; Kari, Jameela A; Thalgahagoda, Shenal; Ranawaka, Randula; Abeyagunawardena, Asiri; Gbadegesin, Rasheed; Parekh, Rulan; Kleta, Robert; Bockenhauer, Detlef; Stanescu, Horia C; Gale, Daniel P

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

EHD1基因的创始突变表现为肾小管蛋白尿和耳聋

Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D; Stanescu, Horia C; Dumitriu, Simona; Iancu, Daniela; Tekman, Mehmet; Mozere, Monika; Jaureguiberry, Graciana; Outtandy, Priya; Russell, Claire; Forst, Anna-Lena; Sterner, Christina; Heinl, Elena-Sofia; Othmen, Helga; Tegtmeier, Ines; Reichold, Markus; Schiessl, Ina Maria; Limm, Katharina; Oefner, Peter; Witzgall, Ralph; Fu, Lifei; Theilig, Franziska; Schilling, Achim; Shuster Biton, Efrat; Kalfon, Limor; Fedida, Ayalla; Arnon-Sheleg, Elite; Ben Izhak, Ofer; Magen, Daniella; Anikster, Yair; Schulze, Holger; Ziegler, Christine; Lowe, Martin; Davies, Benjamin; Böckenhauer, Detlef; Kleta, Robert; Falik Zaccai, Tzipora C; Warth, Richard

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

膜性肾病的遗传结构及其在改善非侵入性诊断方面的潜力

Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael J; Bodria, Monica; Zanoni, Francesca; Zhang, Jun Y; Krithivasan, Priya; Mehl, Karla; Marasa, Maddalena; Khan, Atlas; Ozay, Fatih; Canetta, Pietro A; Bomback, Andrew S; Appel, Gerald B; Sanna-Cherchi, Simone; Sampson, Matthew G; Mariani, Laura H; Perkowska-Ptasinska, Agnieszka; Durlik, Magdalena; Mucha, Krzysztof; Moszczuk, Barbara; Foroncewicz, Bartosz; Pączek, Leszek; Habura, Ireneusz; Ars, Elisabet; Ballarin, Jose; Mani, Laila-Yasmin; Vogt, Bruno; Ozturk, Savas; Yildiz, Abdülmecit; Seyahi, Nurhan; Arikan, Hakki; Koc, Mehmet; Basturk, Taner; Karahan, Gonca; Akgul, Sebahat Usta; Sever, Mehmet Sukru; Zhang, Dan; Santoro, Domenico; Bonomini, Mario; Londrino, Francesco; Gesualdo, Loreto; Reiterova, Jana; Tesar, Vladimir; Izzi, Claudia; Savoldi, Silvana; Spotti, Donatella; Marcantoni, Carmelita; Messa, Piergiorgio; Galliani, Marco; Roccatello, Dario; Granata, Simona; Zaza, Gianluigi; Lugani, Francesca; Ghiggeri, GianMarco; Pisani, Isabella; Allegri, Landino; Sprangers, Ben; Park, Jin-Ho; Cho, BeLong; Kim, Yon Su; Kim, Dong Ki; Suzuki, Hitoshi; Amoroso, Antonio; Cattran, Daniel C; Fervenza, Fernando C; Pani, Antonello; Hamilton, Patrick; Harris, Shelly; Gupta, Sanjana; Cheshire, Chris; Dufek, Stephanie; Issler, Naomi; Pepper, Ruth J; Connolly, John; Powis, Stephen; Bockenhauer, Detlef; Stanescu, Horia C; Ashman, Neil; Loos, Ruth J F; Kenny, Eimear E; Wuttke, Matthias; Eckardt, Kai-Uwe; Köttgen, Anna; Hofstra, Julia M; Coenen, Marieke J H; Kiemeney, Lambertus A; Akilesh, Shreeram; Kretzler, Matthias; Beck, Lawrence H; Stengel, Benedicte; Debiec, Hanna; Ronco, Pierre; Wetzels, Jack F M; Zoledziewska, Magdalena; Cucca, Francesco; Ionita-Laza, Iuliana; Lee, Hajeong; Hoxha, Elion; Stahl, Rolf A K; Brenchley, Paul; Scolari, Francesco; Zhao, Ming-Hui; Gharavi, Ali G; Kleta, Robert; Chen, Nan; Kiryluk, Krzysztof

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

通过基因检测鉴定出与类固醇敏感性肾病综合征相关的两个新基因位点

Dufek, Stephanie; Cheshire, Chris; Levine, Adam P; Trompeter, Richard S; Issler, Naomi; Stubbs, Matthew; Mozere, Monika; Gupta, Sanjana; Klootwijk, Enriko; Patel, Vaksha; Hothi, Daljit; Waters, Aoife; Webb, Hazel; Tullus, Kjell; Jenkins, Lucy; Godinho, Lighta; Levtchenko, Elena; Wetzels, Jack; Knoers, Nine; Teeninga, Nynke; Nauta, Jeroen; Shalaby, Mohamed; Eldesoky, Sherif; Kari, Jameela A; Thalgahagoda, Shenal; Ranawaka, Randula; Abeyagunawardena, Asiri; Adeyemo, Adebowale; Kristiansen, Mark; Gbadegesin, Rasheed; Webb, Nicholas J; Gale, Daniel P; Stanescu, Horia C; Kleta, Robert; Bockenhauer, Detlef

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

甘氨酸脒基转移酶(GATM)、肾性范可尼综合征和肾衰竭

Reichold, Markus; Klootwijk, Enriko D; Reinders, Joerg; Otto, Edgar A; Milani, Mario; Broeker, Carsten; Laing, Chris; Wiesner, Julia; Devi, Sulochana; Zhou, Weibin; Schmitt, Roland; Tegtmeier, Ines; Sterner, Christina; Doellerer, Hannes; Renner, Kathrin; Oefner, Peter J; Dettmer, Katja; Simbuerger, Johann M; Witzgall, Ralph; Stanescu, Horia C; Dumitriu, Simona; Iancu, Daniela; Patel, Vaksha; Mozere, Monika; Tekman, Mehmet; Jaureguiberry, Graciana; Issler, Naomi; Kesselheim, Anne; Walsh, Stephen B; Gale, Daniel P; Howie, Alexander J; Martins, Joana R; Hall, Andrew M; Kasgharian, Michael; O'Brien, Kevin; Ferreira, Carlos R; Atwal, Paldeep S; Jain, Mahim; Hammers, Alexander; Charles-Edwards, Geoffrey; Choe, Chi-Un; Isbrandt, Dirk; Cebrian-Serrano, Alberto; Davies, Ben; Sandford, Richard N; Pugh, Christopher; Konecki, David S; Povey, Sue; Bockenhauer, Detlef; Lichter-Konecki, Uta; Gahl, William A; Unwin, Robert J; Warth, Richard; Kleta, Robert

Genetics of membranous nephropathy

膜性肾病遗传学

Gupta, Sanjana; Köttgen, Anna; Hoxha, Elion; Brenchley, Paul; Bockenhauer, Detlef; Stanescu, Horia C; Kleta, Robert

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies

膜性肾病遗传风险变异:与其他慢性肾脏病病因的关联及扩展

Sekula, Peggy; Li, Yong; Stanescu, Horia C; Wuttke, Matthias; Ekici, Arif B; Bockenhauer, Detlef; Walz, Gerd; Powis, Stephen H; Kielstein, Jan T; Brenchley, Paul; Eckardt, Kai-Uwe; Kronenberg, Florian; Kleta, Robert; Köttgen, Anna

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

基因组分析在快速准确地临床诊断复杂罕见表型方面的应用实例

Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia C; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel J; Bitner-Glindzicz, Maria

STAG3 truncating variant as the cause of primary ovarian insufficiency

STAG3截断变异是原发性卵巢功能不全的病因

Le Quesne Stabej, Polona; Williams, Hywel J; James, Chela; Tekman, Mehmet; Stanescu, Horia C; Kleta, Robert; Ocaka, Louise; Lescai, Francesco; Storr, Helen L; Bitner-Glindzicz, Maria; Bacchelli, Chiara; Conway, Gerard S