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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

Mingardo, Enrico ; Beaman, Glenda ; Grote, Philip ; Nordenskjöld, Agneta ; Newman, William ; Woolf, Adrian S. ; Eckstein, Markus ; Hilger, Alina C. ; Dworschak, Gabriel C. ; Rösch, Wolfgang ; Ebert, Anne-Karolin ; Stein, Raimund ; Brusco, Alfredo ; Di Grazia, Massimo ; Tamer, Ali ; Torres, Federico M. ; Hernandez, Jose L. ; Erben, Philipp ; Maj, Carlo ; Olmos, Jose M. ; Riancho, Jose A. ; Valero, Carmen ; Hostettler, Isabel C. ; Houlden, Henry ; Werring, David J. ; Schumacher, Johannes ; Gehlen, Jan ; Giel, Ann-Sophie ; Buerfent, Benedikt C. ; Arkani, Samara ; Åkesson, Elisabeth ; Rotstein, Emilia ; Ludwig, Michael ; Holmdahl, Gundela ; Giorgio, Elisa ; Berettini, Alfredo ; Keene, David ; Cervellione, Raimondo M. ; Younsi, Nina ; Ortlieb, Melissa ; Oswald, Josef ; Haid, Bernhard ; Promm, Martin ; Neissner, Claudia ; Hirsch, Karin ; Stehr, Maximilian ; Schäfer, Frank-Mattias ; Schmiedeke, Eberhard ; Boemers, Thomas M. ; van Rooij, Iris A. L. M. ; Feitz, Wouter F. J. ; Marcelis, Carlo L. M. ; Lacher, Martin ; Nelson, Jana ; Ure, Benno ; Fortmann, Caroline ; Gale, Daniel P. ; Chan, Melanie M. Y. ; Ludwig, Kerstin U. ; Nöthen, Markus M. ; Heilmann, Stefanie ; Zwink, Nadine ; Jenetzky, Ekkehart ; Odermatt, Benjamin ; Knapp, Michael ; Reutter, Heiko



Abstract

Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association ...

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