Einträge von Kleta, Robert auf dem Publikationsserver

Meindl, Katrin , Issler, Naomi, Afonso, Sara Cerqueira, Cebrian-Serrano, Alberto, Müller-Decker, Karin, Sterner, Christina, Othmen, Helga, Tegtmeier, Ines, Witzgall, Ralph , Klootwijk, Enriko D., Davies, Benjamin, Kleta, Robert und Warth, Richard (2023) A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility. Frontiers in Cell and Developmental Biology 11.

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. und Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Journal of the American Society of Nephrology 33 (4), S. 732-745.

Issler, Naomi, Afonso, Sara Cerqueira, 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 J., 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. und Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Nicht ausgewählt, Universität Regensburg. Volltext nicht vorhanden.

Warth, Richard, Forst, Anna-Lena, Reichold, Markus und Kleta, Robert (2021) Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM. Frontiers in Physiology 12 (715485), S. 1-10. (Eingereicht)

Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan , Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer , Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F. , Weber, Stefanie, Palygin, Oleg , Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard , Zdebik, Anselm A. und Konrad, Martin (2021) Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Journal of the American Society of Nephrology 32 (6), S. 1498-1512. Volltext nicht vorhanden.

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja , Holm, Rikke, Baumann, Matthias, König, Jens, Lee, Jessica J. Y., Drögemöller, Britt , Imminger, Katrin, Beck, Bodo B., Altmüller, Janine, Thiele, Holger, Waldegger, Siegfried, van’t Hoff, William, Kleta, Robert, Warth, Richard , van Karnebeek, Clara D. M., Vilsen, Bente , Bockenhauer, Detlef und Konrad, Martin (2018) Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. The American Journal of Human Genetics 103 (5), S. 808-816. Volltext nicht vorhanden.

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 und Kleta, Robert (2018) Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Journal of the American Society of Nephrology 29 (7), S. 1849-1858. Volltext nicht vorhanden.

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, Oefner, Peter J., Gronwald, Wolfram und Zacharias, Helena (2016) Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies. Nephrology Dialysis Transplantation 32 (2), S. 325-332. Volltext nicht vorhanden.

Klootwijk, Enriko D., Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven, Reinders, Jörg, Peindl, Dominika Elisabeth, Renner, Kathrin, Eberhart, Karin, Aßmann, Nadine, Oefner, Peter J., Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W., Stanescu, Horia C., Bockenhauer, Detlef, Jaureguiberry, Gracian, Courtneidge, Holly, Hall, Andrew M., Wijeyesekera, Anisha, Holmes, Elaine, Nicholson, Jeremy K., O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M., Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K., Ilya, Mohammad, Unwin, Robert J., Gahl, William A., Warth, Richard und Kleta, Robert (2014) Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome. The New England Journal of Medicine 370, S. 129-138. Volltext nicht vorhanden.