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Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis 单分子实时测序用于MUC1可变数目串联重复序列变异以改善常染色体显性肾小管间质性肾脏疾病的诊断 Vrbacka, Alena; Pristoupilova, Anna; Kidd, Kendrah O.; Janousek, Vaclav; Radina, Martin; Vyletal, Petr; Bitar, Ibrahim; Stranecky, Viktor; Steiner-Mrazova, Lenka; Treslova, Helena; Sovova, Jana; Hodanova, Katerina; Hartmannova, Hana; Musalkova, Dita; Svojsova, Klara; Kmochova, Tereza; Baresova, Veronika; Bleyer, Heidi; Taylor, Abby; Martin, Lauren; Sanchez, Antonio; Rysava, Romana; Lajtmanova, Innet; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Jorge, Sofia; Lopes, Jose Antonio; Rodrigues, Marcia; Elhassan, Elhussein; Clince, Michelle; Rowan, Colm; Conlon, Peter; Teltsh, Omri; Cavalleri, Gianpiero L.; Blumenstiel, Brendan; Toledo, Diana; DiStefano, Marina; DeFelice, Matthew; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav 分享 收藏
Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease 与常染色体显性遗传性肾小管间质性肾病CKD分期相关的血浆代谢物 Musalkova, Dita; Radina, Martin; Kidd, Kendrah; Hartmannova, Hana; Treslova, Helena; Hodanova, Katerina; Vyletal, Petr; Vrbacka, Alena; Votruba, Miroslav; Sanchez, Antonio; Martin, Lauren; Taylor, Abbigail; Kim, Alice; Kulhava, Lucie Rudl; Hricko, Jiri; Cajka, Tomas; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav 分享 收藏
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Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies 基因型-表型相关性及遗传性TRPC6足细胞病变的临床结局 McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J. 分享 收藏
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Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada 在加拿大慢性肾病患者的诊断途径中实施肾脏遗传服务 Schott, Clara; Arnaldi, Monica; Baker, Cadence; Wang, Jian; Mcintyre, Adam D.; Colaiacovo, Samantha; Relouw, Sydney; Offerni, Gabriela Almada; Campagnolo, Carla; Nynatten, Logan R. Van; Pourtousi, Ava; Drago-Catalfo, Alexa; Lebedeva, Victoria; Chiu, Michael; Cowan, Andrea; Filler, Guido; Gunaratnam, Lakshman; House, Andrew A.; Huang, Susan; Iyer, Hariharan; Jain, Arsh K.; Jevnikar, Anthony M.; Lotfy, Khaled; Moist, Louise; Rehman, Faisal; Roshanov, Pavel S.; Sharma, Ajay P.; Weir, Matthew A.; Kidd, Kendrah; Bleyer, Anthony J.; Hegele, Robert A.; Connaughton, Dervla M. 分享 收藏
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina 分享 收藏
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection 描述一种新的简单且具有成本效益的分子测试，可以简化MUC1变体检测 Fages, Victor; Bourre, Florentin; Larrue, Romain; Wenzel, Andrea; Gibier, Jean-Baptiste; Bonte, Fabrice; Dhaenens, Claire -Marie; Kidd, Kendrah; Kmoch, Stanislav; Bleyer, Anthony; Glowacki, Francois; Grunewald, Olivier 分享 收藏
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis Kmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, Viktor; Robins, Victoria C.; Taylor, Abbigail; Martin, Lauren; Rivas-Chavez, Ana; Payne, Riley; Bleyer, Heidi A.; Williams, Adrienne; Rennke, Helmut G.; Weins, Astrid; Short, Patrick J.; Agrawal, Varun; Storsley, Leroy J.; Waikar, Sushrut S.; McPhail, Ellen D.; Dasari, Surendra; Leung, Nelson; Hewlett, Tom; Yorke, Jake; Gaston, Daniel; Geldenhuys, Laurette; Samuels, Mark; Levine, Adam P.; West, Michael; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav 分享 收藏
Precision nephrotoxicity testing using 3D in vitro models Yu, Pengfei; Zhu, Hainan; Bosholm, Carol Christine; Beiner, Daniella; Duan, Zhongping; Shetty, Avinash K.; Mou, Steve S.; Kramer, Philip Adam; Barroso, Luis F.; Liu, Hongbing; Cheng, Kun; Ihnat, Michael; Gorris, Matthew A.; Aloi, Joseph A.; Woldemichael, Jobira A.; Bleyer, Anthony; Zhang, Yuanyuan 分享 收藏
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family de Haan, Amber; van Eerde, Albertien M.; Eijgelsheim, Mark; Rump, Patrick; van der Zwaag, Bert; Hennekam, Eric; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J.; Kidd, Kendrah; Vogt, Liffert; Knoers, Nine V. A. M.; de Borst, Martin H. 分享 收藏
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD Jorge, Sofia; Kidd, Kendrah; Vylet'al, Petr; Nogueira, Estela; Martin, Lauren; Howard, Katrice; Baresova, Veronika; Hodanova, Katerina; Hnizda, Ales; Moldovan, Oana; Silveira, Catarina; Coutinho, Ana Margarida; Lopes, Jose Antonio; Bleyer, Anthony J.; Kmoch, Stanislav; Zivna, Martina 分享 收藏
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022 Musalkova, Dita; Piherova, Lenka; Kwasny, Ondrej; Dindova, Zuzana; Stancik, Lubor; Hartmannova, Hana; Slama, Otomar; Peckova, Petra; Pargac, Josef; Minarik, Gabriel; Zima, Tomas; Bleyer, Anthony J.; Radina, Martin; Pohludka, Michal; Kmoch, Stanislav 分享 收藏
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys Airik, Merlin; Arbore, Haley; Childs, Elizabeth; Huynh, Amy B.; Phua, Yu Leng; Chen, Chi Wei; Aird, Katherine; Bharathi, Sivakama; Zhang, Bob; Conlon, Peter; Kmoch, Stanislav; Kidd, Kendrah; Bleyer, Anthony J.; Vockley, Jerry; Goetzman, Eric; Wipf, Peter; Airik, Rannar 分享 收藏
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis Al-bataineh, Mohammad M.; Kinlough, Carol L.; Marciszyn, Allison; Lam, Tracey; Ye, Lorena; Kidd, Kendrah; Maggiore, Joseph C.; Poland, Paul A.; Kmoch, Stanislav; Bleyer, Anthony; Bain, Daniel J.; Montalbetti, Nicolas; Kleyman, Thomas R.; Hughey, Rebecca P.; Ray, Evan C. 分享 收藏
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