Einträge von Bockenhauer, Detlef auf dem Publikationsserver

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.

Thompson, Dorothy A. , Feather, Sally, Stanescu, Horia C., Freudenthal, Bernard , Zdebik, Anselm A., Warth, Richard , Ognjanovic, Milos, Hulton, Sally A., Wassmer, Evangeline, van't Hoff, William, Russell‐Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert und Bockenhauer, Detlef (2011) Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. The Journal of Physiology 589 (7), S. 1681-1689. Volltext nicht vorhanden.

Bandulik, Sascha, Schmidt, Katharina, Bockenhauer, Detlef , Zdebik, Anselm A., Humberg, Evelyn, Kleta, Robert, Warth, Richard und Reichold, Markus (2011) The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflügers Archiv - European Journal of Physiology 461 (4), S. 423-435. Volltext nicht vorhanden.

Reichold, Markus, Zdebik, Anselm A., Lieberer, Evelyn, Rapedius, Markus, Schmidt, Katharina, Bandulik, Sascha, Sterner, Christina, Tegtmeier, Ines, Penton, David, Baukrowitz, Thomas, Hulton, Sally-Anne, Witzgall, Ralph , Ben-Zeev, Bruria, Howie, Alexander J., Kleta, Robert, Bockenhauer, Detlef und Warth, Richard (2010) KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proceedings of the National Academy of Sciences 107 (32), S. 14490-14495. Volltext nicht vorhanden.

Bockenhauer, Detlef , Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy , Cross, J. Helen, van't Hoff, William, Al Masri, Omar, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike , Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio , Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard , Sheridan, Eamonn und Kleta, Robert (2009) Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations. New England Journal of Medicine 360 (19), S. 1960-1970. Volltext nicht vorhanden.

Kleta, Robert, Romeo, Elisa, Ristic, Zorica, Ohura, Toshihiro, Stuart, Caroline, Arcos-Burgos, Mauricio , Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M , Inoue, Sumiko, Matsuura, Norio, Helip-Wooley, Amanda, Bockenhauer, Detlef , Warth, Richard , Bernardini, Isa, Visser, Gepke, Eggermann, Thomas, Lee, Philip, Chairoungdua, Arthit, Jutabha, Promsuk, Babu, Ellappan, Nilwarangkoon, Sirinun, Anzai, Naohiko, Kanai, Yoshikatsu, Verrey, Francois , Gahl, William A und Koizumi, Akio (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nature Genetics 36 (9), S. 999-1002. Volltext nicht vorhanden.