Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

por van de Grift, Tim C., Rapp, Marion, Holmdahl, Gundela, Duranteau, Lise, Nordenskjold, Agneta
Publicado 2021

A qualitative content analysis of the experience of hypospadias care: The importance of owning your own narrative

por Phillips, Lottie, Dennermalm, Nicklas, Örtqvist, Lisa, Engberg, Hedvig, Holmdahl, Gundela, Fossum, Magdalena, Möller, Anders, Nordenskjöld, Agneta
Publicado 2023

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

por Nordenskjöld, Agneta, Arkani, Samara, Pettersson, Maria, Winberg, Johanna, Cao, Jia, Fossum, Magdalena, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Lundin, Johanna
Publicado 2022

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

por Arkani, Samara, Cao, Jia, Lundin, Johanna, Nilsson, Daniel, Källman, Thomas, Barker, Gillian, Holmdahl, Gundela, Clementsson Kockum, Christina, Matsson, Hans, Nordenskjöld, Agneta
Publicado 2018

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

por Lundin, Johanna, Markljung, Ellen, Baranowska Körberg, Izabella, Hofmeister, Wolfgang, Cao, Jia, Nilsson, Daniel, Holmdahl, Gundela, Barker, Gillian, Anderberg, Magnus, Vukojević, Vladana, Lindstrand, Anna, Nordenskjöld, Agneta
Publicado 2019

How the First Year of COVID-19 Affected Elective Pediatric Urology Patients: A Longitudinal Study Based on Waiting Lists and Surveys From 10 European Centers

por Juul, Nikolai, Cazals, Aurélie, Hofmann, Aybike, Amesty, Virginia, Verkauskas, Gilvydas, Dobrowolska-Glazar, Barbara, Holmdahl, Gundela, Escolino, Maria, Birraux, Jacques, Kovacs, Tamas, Kalfa, Nicolas, Fossum, Magdalena
Publicado 2022

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

por Zhang, Rong, Knapp, Michael, Suzuki, Kentaro, Kajioka, Daiki, Schmidt, Johanna M., Winkler, Jonas, Yilmaz, Öznur, Pleschka, Michael, Cao, Jia, Kockum, Christina Clementson, Barker, Gillian, Holmdahl, Gundela, Beaman, Glenda, Keene, David, Woolf, Adrian S., Cervellione, Raimondo M., Cheng, Wei, Wilkins, Simon, Gearhart, John P., Sirchia, Fabio, Di Grazia, Massimo, Ebert, Anne-Karolin, Rösch, Wolfgang, Ellinger, Jörg, Jenetzky, Ekkehart, Zwink, Nadine, Feitz, Wout F., Marcelis, Carlo, Schumacher, Johannes, Martinón-Torres, Federico, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Heilmann-Heimbach, Stefanie, Barth, Sandra, Boyadjiev, Simeon A., Brusco, Alfredo, Ludwig, Michael, Newman, William, Nordenskjöld, Agneta, Yamada, Gen, Odermatt, Benjamin, Reutter, Heiko
Publicado 2017

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

por Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Öznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjöld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Rösch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Bökenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, Reutter, Heiko
Publicado 2020

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

por 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
Publicado 2022