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, Waffenschmidt, Lea, Fazaal, Julia, Breuer, Katinka, Hilger, Alina C., Dworschak, Gabriel C., Mingardo, Enrico, Rösch, Wolfgang, Hofmann, Aybike, Neissner, Claudia, Ebert, Anne-Karolin, Stein, Raimund, Younsi, Nina, Hirsch-Koch, Karin, Schmiedeke, Eberhard, Zwink, Nadine, Jenetzky, Ekkehart, Thiele, Holger, Ludwig, Kerstin U.
und Reutter, Heiko
(2023)
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Biomolecules 13 (7), S. 1117.
Volltext nicht vorhanden.
, Waffenschmidt, Lea, Schierbaum, Luca, Bendixen, Charlotte, Heilmann-Heimbach, Stefanie
, Sivalingam, Sugirthan, Buness, Andreas, Schwarzer, Nicole, Boemers, Thomas M., Schmiedeke, Eberhard, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Weih, Sandra, Gielen, Helen Maya, Hosie, Stuart, Kabs, Carmen, Palta, Markus, Märzheuser, Stefanie, Bode, Lena Marie, Lacher, Martin, Schäfer, Frank-Mattias, Stehr, Maximilian, Knorr, Christian, Ure, Benno, Kleine, Katharina, Rolle, Udo, Zaniew, Marcin, Phillip, Grote, Zwink, Nadine, Jenetzky, Ekkehart, Reutter, Heiko und Hilger, Alina C.
(2023)
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
European Journal of Human Genetics 31 (1), S. 105-111.
Volltext nicht vorhanden.
, 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 und Reutter, Heiko
(2022)
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Communications Biology 5 (1).
Volltext nicht vorhanden.
, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip
, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger
, Ludwig, Michael, Schweizer, Ulrich
, Woolf, Adrian S.
, Odermatt, Benjamin und Reutter, Heiko
(2020)
SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
Frontiers in Cell and Developmental Biology 8.
Volltext nicht vorhanden.
, Stein, Raimund, Hölscher, Alice C., Lacher, Martin, Fortmann, Caroline, Obermayr, Florian, Fisch, Margit, Mortazawi, Kiarasch, Schmiedeke, Eberhard, Promm, Martin, Hirsch, Karin, Schäfer, Frank-Mattias und Rösch, Wolfgang H.
(2020)
Treatment Strategies and Outcome of the Exstrophy–Epispadias Complex in Germany: Data From the German CURE-Net.
Frontiers in Pediatrics 8.
Volltext nicht vorhanden.
, Pennimpede, Tracie, Wittler, Lars, Brockschmidt, Felix F., Ebert, Anne-Karolin, Bartels, Enrika, Rösch, Wolfgang, Boemers, Thomas M., Hirsch, Karin, Schmiedeke, Eberhard, Meesters, Christian, Becker, Tim, Stein, Raimund, Utsch, Boris, Mangold, Elisabeth, Nordenskjöld, Agneta, Barker, Gillian, Kockum, Christina Clementsson, Zwink, Nadine, Holmdahl, Gundula, Läckgren, Göran, Jenetzky, Ekkehart, Feitz, Wouter F.J., Marcelis, Carlo, Wijers, Charlotte H.W., Van Rooij, Iris A.L.M., Gearhart, John P., Herrmann, Bernhard G., Ludwig, Michael, Boyadjiev, Simeon A., Nöthen, Markus M. und Mattheisen, Manuel
(2014)
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Human Molecular Genetics 23 (20), S. 5536-5544.
Volltext nicht vorhanden.
und Ebert, Anne-Karoline
(2013)
Assisted Reproductive Techniques and Risk of Exstrophy-Epispadias Complex: A German Case-Control Study.
Journal of Urology 189 (4), S. 1524-1529.
Volltext nicht vorhanden.
, Müller, Martin, Detlefsen, Birte, Zwink, Nadine, Rogenhofer, Sebastian, Gobet, Rita, Beckers, Goedele M.A.
, Bökenkamp, Arend, Kajbafzadeh, Abdol-Mohammad, Jaureguizar, Enrique, Draaken, Markus
, Lakshmanan, Yegappan, Gearhart, John P., Ludwig, Michael, Nöthen, Markus M. und Jenetzky, Ekkehart
(2011)
Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe.
The Journal of Pediatrics 159 (5), 825-831.e1.
Volltext nicht vorhanden.
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