Not logged inPlasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease
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 .png)
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SaveGenotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathyKubanek, Milos; Binova, Jana; Piherova, Lenka; Krebsova, Alice; Kotrc, Martin; Hartmannova, Hana; Hodanova, Katerina; Musalkova, Dita; Stranecky, Viktor; Palecek, Tomas; Chaloupka, Anna; Grochova, Ilga; Krejci, Jan; Petrkova, Jana; Melenovsky, Vojtech; Kmoch, Stanislav; Kautzner, Josef Share Save A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial FibrosisElhassan, 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 Share Save Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKDJorge, 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 Share Save A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosisSikora, Jakub; Kmochova, Tereza; Musalkova, Dita; Pohludka, Michal; Prikryl, Petr; Hartmannova, Hana; Hodanova, Katerina; Treslova, Helena; Noskova, Lenka; Mrazova, Lenka; Stranecky, Viktor; Lunova, Mariia; Jirsa, Milan; Honsova, Eva; Dasari, Surendra; McPhail, Ellen D.; Leung, Nelson; Zivna, Martina; Bleyer, Anthony J.; Rychlik, Ivan; Rysava, Romana; Kmoch, Stanislav Share Save Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for reninSicking, Mark; Zivna, Martina; Bhadra, Pratiti; Baresova, Veronika; Tirincsi, Andrea; Hadzibeganovic, Drazena; Hodanova, Katerina; Vyletal, Petr; Sovova, Jana; Jedlickova, Ivana; Jung, Martin; Bell, Thomas; Helms, Volkhard; Bleyer, Anthony J.; Kmoch, Stanislav; Cavalie, Adolfo; Lang, Sven Share Save Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ InvolvementBuglioni, Alessia; Hasadsri, Linda; Nasr, Samih H.; Hogan, Marie C.; Moyer, Ann M.; Siddique, Khurrum; Kidd, Kendrah; Kmoch, Stanislav; Hodanova, Katerina; Bleyer, Anthony J.; Alexander, Mariam P. Share Save Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 MutationsVylet'al, Petr; Kidd, Kendrah; Ainsworth, Hannah C.; Springer, Drahomira; Vrbacka, Alena; Pristoupilova, Anna; Hughey, Rebecca P.; Alper, Seth L.; Lennon, Niall; Harrison, Steven; Harden, Maegan; Robins, Victoria; Taylor, Abbigail; Martin, Lauren; Howard, Katrice; Bitar, Ibrahim; Langefeld, Carl D.; Baresova, Veronika; Hartmannova, Hana; Hodanova, Katerina; Zima, Tomas; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J. Share Save An 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 Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD MutationsKidd, Kendrah; Vylet'al, Petr; Schaeffer, Celine; Olinger, Eric; Zivna, Martina; Hodanova, Katerina; Robins, Victoria; Johnson, Emily; Taylor, Abbigail; Martin, Lauren; Izzi, Claudia; Jorge, Sofia C.; Calado, Joaquim; Torres, Rosa J.; Lhotta, Karl; Steubl, Dominik; Gale, Daniel P.; Gast, Christine; Gombos, Eva; Ainsworth, Hannah C.; Chen, Ying Maggie; Almeida, Jorge Reis; Souza, Cintia Fernandes de; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J.; Murray, Susan L.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Votruba, Miroslav; Vrbacka, Alena; Amoroso, Antonio; Gianchino, Daniela; Caridi, Gianluca; Ghiggeri, Gian Marco; Divers, Jasmin; Scolari, Francesco; Devuyst, Olivier; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1Olinger, Eric; Hofmann, Patrick; Kidd, Kendrah; Dufour, Ines; Belge, Hendrica; Schaeffer, Celine; Kipp, Anne; Bonny, Olivier; Deltas, Constantinos; Demoulin, Nathalie; Fehr, Thomas; Fuster, Daniel G.; Gale, Daniel P.; Goffin, Eric; Hodanova, Katerina; Huynh-Do, Uyen; Kistler, Andreas; Morelle, Johann; Papagregoriou, Gregory; Pirson, Yves; Sandford, Richard; Sayer, John A.; Torra, Roser; Venzin, Christina; Venzin, Reto; Vogt, Bruno; Zivna, Martina; Greka, Anna; Dahan, Karin; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J., Sr.; Devuyst, Olivier Share Save Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencingJedlickova, Ivana; Cadieux-Dion, Maxime; Pristoupilova, Anna; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Baresova, Veronika; Hulkova, Helena; Sikora, Jakub; Noskova, Lenka; Musalkova, Dita; Vyletal, Petr; Sovova, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav Share Save Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor; Pristoupilova, Anna; Baresova, Veronika; Jedlickova, Ivana; Zivna, Martina; Sovova, Jana; Hulkova, Helena; Robins, Vicki; Vrbacky, Marek; Pecina, Petr; Kaplanova, Vilma; Houstek, Josef; Mracek, Tomas; Thibeault, Yves; Bleyer, Anthony J.; Kmoch, Stanislav Share Save Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaBolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; Van Hemelrijk, Christine; Schepers, Dorien; Vandeweyer, Geert; Hoischen, Alexander; Huyghe, Jeroen R.; Raes, Ann; Matthys, Erve; Sys, Emiel; Azou, Myriam; Gubler, Marie-Claire; Praet, Marleen; Van Camp, Guy; McFadden, Kelsey; Pediaditakis, Igor; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; Kidd, Kendrah; Bleyer, Anthony J.; Spong, Richard S.; Vande Walle, Johan; Mortier, Geert; Brunner, Han; Van Laer, Lut; Kmoch, Stanislav; Katsanis, Nicholas; Loeys, Bart L. Share Save Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Davidson, Alice E.; Liskova, Petra; Evans, Cerys J.; Dudakova, Lubica; Noskova, Lenka; Pontikos, Nikolas; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Kozmik, Zbynek; Levis, Hannah J.; Idigo, Nwamaka; Sasai, Noriaki; Maher, Geoffrey J.; Bellingham, James; Veli, Neyme; Ebenezer, Neil D.; Cheetham, Michael E.; Daniels, Julie T.; Thaung, Caroline M. H.; Jirsova, Katerina; Plagnol, Vincent; Filipec, Martin; Kmoch, Stanislav; Tuft, Stephen J.; Hardcastle, Alison J. Share Save Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessKmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I. M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stranecky, V.; Hartmannova, H.; Pristoupilova, A.; Hodanova, K.; Piherova, L.; Kuchar, L.; Baxova, A.; Chen, R.; Barsottini, O. G. P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J. L.; Sampson, J. R.; Chinnery, P.; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J. L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R. K. Share Save Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1Bleyer, Anthony J.; Kmoch, Stanislav; Antignac, Corinne; Robins, Vicki; Kidd, Kendrah; Kelsoe, John R.; Hladik, Gerald; Klemmer, Philip; Knohl, Stephen J.; Scheinman, Steven J.; Nam Vo; Santi, Ann; Harris, Alese; Canaday, Omar; Weller, Nelson; Hulick, Peter J.; Vogel, Kristen; Rahbari-Oskoui, Frederick F.; Tuazon, Jennifer; Deltas, Constantinos; Somers, Douglas; Megarbane, Andre; Kimmel, Paul L.; Sperati, C. John; Orr-Urtreger, Avi; Ben-Shachar, Shay; Waugh, David A.; McGinn, Stella; Bleyer, Anthony J., Jr.; Hodanova, Katerina; Vylet'al, Petr; Zivna, Martina; Hart, Thomas C.; Hart, P. Suzanne Share Save Mutations in ANTXR1 Cause GAPO SyndromeStranecky, Viktor; Hoischen, Alexander; Hartmannova, Hana; Zaki, Maha S.; Chaudhary, Amit; Zudaire, Enrique; Noskova, Lenka; Baresova, Veronika; Pristoupilova, Anna; Hodanova, Katerina; Sovova, Jana; Hulkova, Helena; Piherova, Lenka; Hehir-Kwa, Jayne Y.; de Silva, Deepthi; Senanayake, Manouri P.; Farrag, Sameh; Zeman, Jiri; Martasek, Pavel; Baxova, Alice; Afifi, Hanan H.; St Croix, Brad; Brunner, Han G.; Temtamy, Samia; Kmoch, Stanislav Share Save Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58VEhling, Rainer; Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Hodanova, Katerina; Benke, Thomas; Kovacs, Gabor G.; Stroebel, Thomas; Niedermueller, Ulrike; Wagner, Michaela; Nachbauer, Wolfgang; Janecke, Andreas; Budka, Herbert; Boesch, Sylvia; Kmoch, Stanislav 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 
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