Not logged inA 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 .png)
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SaveAn international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesZivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M.; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R.; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save Share Save Share Save Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseZivna, Martina; Kidd, Kendrah; Pristoupilova, Anna; Baresova, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Vrbacka, Alena; Vylet'al, Petr; Zivny, Jan; Votruba, Miroslav; Sovova, Jana; Hulkova, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomas; Viklicky, Ondrej; Rajnochova-Bloudickova, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav Share Save Hematopoiesis in patients with mature B-cell malignancies is deregulated even in patients with undetectable bone marrow involvementMaswabi, Bokang Calvin Lenyeletse; Molinsky, Jan; Savvulidi, Filipp; Zikmund, Tomas; Prukova, Dana; Tuskova, Diana; Klanova, Magdalena; Vockova, Petra; Lateckova, Lucie; Sefc, Ludek; Zivny, Jan; Trneny, Marek; Klener, Pavel Share Save Mouse models of mantle cell lymphoma, complex changes in gene expression and phenotype of engrafted MCL cells: implications for preclinical researchKlanova, Magdalena; Soukup, Tomas; Jaksa, Radek; Molinsky, Jan; Lateckova, Lucie; Maswabi, Bokang C. L.; Prukova, Dana; Brezinova, Jana; Michalova, Kyra; Vockova, Petra; Hernandez-Ilizaliturri, Francisco; Kulvait, Vojtech; Zivny, Jan; Vokurka, Martin; Necas, Emanuel; Trneny, Marek; Klener, Pavel Share Save Share Save Share Save Share Save Share Save Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney FailureZivna, Martina; Hulkova, Helena; Matignon, Marie; Hodanova, Katerina; Vylet'al, Petr; Kalbacova, Marie; Baresova, Veronika; Sikora, Jakub; Blazkova, Hana; Zivny, Jan; Ivanek, Robert; Stranecky, Viktor; Sovova, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P. Suzanne; Hart, Thomas C.; Adams, Jeremy N.; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Guebler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J.; Kmoch, Stanislav Share Save The cultivation of human multipotent mesenchymal stromal cells in clinical grade medium for bone tissue engineeringPytlik, Robert; Stehlik, David; Soukup, Tomas; Kalbacova, Marie; Rypacek, Frantisek; Trc, Tomas; Mulinkova, Katarina; Michnova, Petra; Kideryova, Linda; Zivny, Jan; Klener, Pavel, Jr.; Vesela, Romana; Trneny, Marek; Klener, Pavel Share Save Share Save Alterations of uromodulin biology:: A common denominator of the genetically heterogeneous FJHN/MCKD syndromeVylet'al, P.; Kublova, M.; Kalbacova, M.; Hodanova, K.; Baresova, V.; Stiburkova, B.; Sikora, J.; Hulkova, H.; Zivny, J.; Majewski, J.; Simmonds, A.; Fryns, J-P; Venkat-Raman, G.; Elleder, M.; Kmoch, S. Share Save Share Save Share Save Share Save 
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