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Displaying 12 results.
    • Journal article
    Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
    Schlingmann, Karl P. Renigunta, Aparna Hoorn, Ewout J. Forst, Anna-Lena Renigunta, Vijay Atanasov, Velko Mahendran, Sinthura Barakat, Tahsin Stefan Gillion, Valentine[UCL] Godefroid, Nathalie[UCL] 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[UCL] Vargas-Poussou, Rosa Warth, Richard Zdebik, Anselm A. Konrad, Martin (2021) Journal of the American Society of Nephrology — Vol. 32, no. 6, p. 1498-1512 (2021)
    • Journal article
    Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
    Gross, Oliver Licht, Christoph Anders, Hans J Hoppe, Bernd Beck, Bodo Tönshoff, Burkhard Höcker, Britta Wygoda, Simone Ehrich, Jochen H H Pape, Lars Konrad, Martin Rascher, Wolfgang Dötsch, Jörg Müller-Wiefel, Dirk E Hoyer, Peter Knebelmann, Bertrand Pirson, Yves[UCL] Grunfeld, Jean-Pierre Niaudet, Patrick Cochat, Pierre Heidet, Laurence Lebbah, Said Torra, Roser Friede, Tim Lange, Katharina Müller, Gerhard A Weber, Manfred (2012) Kidney international — Vol. 81, no. 5, p. 494-501 (2012)
    • Journal article
    The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
    Bassanese, Giulia Wlodkowski, Tanja Servais, Aude Heidet, Laurence Roccatello, Dario Emma, Francesco Levtchenko, Elena Ariceta, Gema Bacchetta, Justine Capasso, Giovambattista Jankauskiene, Augustina Miglinas, Marius Ferraro, Pietro Manuel Montini, Giovanni Oh, Jun Decramer, Stephane Levart, Tanja Kersnik Wetzels, Jack Cornelissen, Elisabeth Devuyst, Olivier[UCL] Zurowska, Aleksandra Pape, Lars Buescher, Anja Haffner, Dieter Marcun Varda, Natasa Ghiggeri, Gian Marco Remuzzi, Giuseppe Konrad, Martin Longo, Germana Bockenhauer, Detlef Awan, Atif Andersone, Ilze Groothoff, Jaap W. Schaefer, Franz (2021) Orphanet Journal of Rare Diseases — Vol. 16, no. 1, p. 251 [1-15] (2021)
    • Journal article
    Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes
    Corre, Tanguy Arjona, Francisco J. Hayward, Caroline Youhanna, Sonia de Baaij, Jeroen H.F. Belge, Hendrica Nägele, Nadine Debaix, Huguette Blanchard, Maxime G. Traglia, Michela Harris, Sarah E. Ulivi, Sheila Rueedi, Rico Lamparter, David Macé, Aurélien Sala, Cinzia Lenarduzzi, Stefania Ponte, Belen Pruijm, Menno Ackermann, Daniel Ehret, Georg Baptista, Daniela Polasek, Ozren Rudan, Igor Hurd, Toby W. Hastie, Nicholas D. Vitart, Veronique Waeber, Geràrd Kutalik, Zoltán Bergmann, Sven Vargas-Poussou, Rosa Konrad, Martin Gasparini, Paolo Deary, Ian J. Starr, John M. Toniolo, Daniela Vollenweider, Peter Hoenderop, Joost G.J. Bindels, René J.M. Bochud, Murielle Devuyst, Olivier[UCL] (2017) Journal of the American Society of Nephrology — Vol. 29, no.1, p. 335-348 (2017)
    • Journal article
    mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
    Schlingmann, Karl P. Jouret, François Shen, Kuang Nigam, Anukrati Arjona, Francisco J. Dafinger, Claudia Houillier, Pascal Jones, Deborah P. Kleinerüschkamp, Felix Oh, Jun Godefroid, Nathalie[UCL] Eltan, Mehmet Güran, Tülay Burtey, Stéphane Parotte, Marie-Christine König, Jens Braun, Alina Bos, Caro Ibars Serra, Maria Rehmann, Holger Zwartkruis, Fried J.T. Renkema, Kirsten Y. Klingel, Karin Schulze-Bahr, Eric Schermer, Bernhard Bergmann, Carsten Altmüller, Janine Thiele, Holger Beck, Bodo B. Dahan, Karin[UCL] Sabatini, David Liebau, Max C. Vargas-Poussou, Rosa Knoers, Nine V.A.M. Konrad, Martin de Baaij, Jeroen H.F. (2021) Journal of the American Society of Nephrology — Vol. 32, no. 11, p. 2885-2899 (2021)
    • Journal article
    Refining kidney survival in 383 genetically characterized patients with nephronophthisis
    König, Jens Christian Karsay, Rebeka Gerß, Joachim Schlingmann, Karl-Peter Dahmer-Heath, Mareike Telgmann, Anna-Katharina Kollmann, Sabine Ariceta, Gema Gillion, Valentine[UCL] Bockenhauer, Detlef Bertholet-Thomas, Aurélia Mastrangelo, Antonio Boyer, Olivia Lilien, Marc Decramer, Stéphane Schanstra, Joost Pohl, Martin Schild, Raphael Weber, Stefanie Hoefele, Julia Drube, Jens Cetiner, Metin Hansen, Matthias Thumfart, Julia Tönshoff, Burghardt Habbig, Sandra Liebau, Max Christoph Bald, Martin Bergmann, Carsten Pennekamp, Petra Konrad, Martin (2022) Kidney international reports — Vol. 7, no. 9, p. 2016-2028 (2022)
    • Journal article
    Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
    Blanchard, Anne Bockenhauer, Detlef Bolignano, Davide Calò, Lorenzo A. Cosyns, Etienne Devuyst, Olivier[UCL] Ellison, David H. Karet Frankl, Fiona E. Knoers, Nine V.A.M. Konrad, Martin Lin, Shih-Hua Vargas-Poussou, Rosa (2017) Kidney International — Vol. 91, no.1, p. 24-33 (2017)
    • Journal article
    Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study
    Verploegen, Maartje F A Vargas-Poussou, Rosa Walsh, Stephen B Alpay, Harika Amouzegar, Atefeh Ariceta, Gema Atmis, Bahriye Bacchetta, Justine Bárány, Peter Baron, Stéphanie Bayrakci, Umut Selda Belge, Hendrica Besouw, Martine Blanchard, Anne Bökenkamp, Arend Boyer, Olivia Burgmaier, Kathrin Calò, Lorenzo A Decramer, Stéphane Devuyst, Olivier[UCL] van Dyck, Maria Ferraro, Pietro Manuel Fila, Marc Francisco, Telma Ghiggeri, Gian Marco Gondra, Leire Guarino, Stefano Hooman, Nakysa Hoorn, Ewout J Houillier, Pascal Kamperis, Konstantinos Kari, Jameela A Konrad, Martin Levtchenko, Elena Lucchetti, Laura Lugani, Francesca Marzuillo, Pierluigi Mohidin, Barian Neuhaus, Thomas J Osman, Abdaldafae Papizh, Svetlana Perelló, Manel Rookmaaker, Maarten B Conti, Valerie Said Santos, Fernando Sawaf, Ghalia Serdaroglu, Erkin Szczepanska, Maria Taroni, Francesca Topaloglu, Rezan Trepiccione, Francesco Vidal, Enrico Wan, Elizabeth R Weber, Lutz Yildirim, Zeynep Yuruk Yüksel, Selçuk Zlatanova, Galia Bockenhauer, Detlef Emma, Francesco Nijenhuis, Tom (2022) Nephrology, dialysis, transplantation — Vol. 37, no. 12, p. 2474-2486 (2022)
    • Journal article
    Treatment and long-term outcome in primary nephrogenic diabetes insipidus
    Lopez-Garcia, Sergio C Downie, Mallory L Kim, Ji Soo Boyer, Olivia Walsh, Stephen B Nijenhuis, Tom Papizh, Svetlana Yadav, Pallavi Reynolds, Ben C Decramer, Stéphane Besouw, Martine Perelló Carrascosa, Manel La Scola, Claudio Trepiccione, Francesco Ariceta, Gema Hummel, Aurélie Dossier, Claire Sayer, John A Konrad, Martin Keijzer-Veen, Mandy G Awan, Atif Basu, Biswanath Chauveau, Dominique Madariaga, Leire Koster-Kamphuis, Linda Furlano, Mónica Zacchia, Miriam Marzuillo, Pierluigi Tse, Yincent Dursun, Ismail Pinarbasi, Ayse Seda Tramma, Despoina Hoorn, Ewout J Gokce, Ibrahim Nicholls, Kathleen Eid, Loai A Sartz, Lisa Riordan, Michael Hooman, Nakysa Printza, Nikoleta Bonny, Olivier Arango Sancho, Pedro Schild, Raphael Sinha, Rajiv Guarino, Stefano Martinez Jimenez, Victor Rodríguez Peña, Lidia Belge, Hendrica Devuyst, Olivier[UCL] Wlodkowski, Tanja Emma, Francesco Levtchenko, Elena Knoers, Nine V A M Bichet, Daniel G Schaefer, Franz Kleta, Robert Wasilewska, Anna Longo, Germana Espinosa, Laura Miglinas, Marius Stroescu, Ramona Huseynova, Shafa Stabouli, Stella Sathyanarayana, Vijaya Andronesi, Andreea G Hahn, Deirdre Sharma, Deepak Petrosyan, Edita Frangou, Eleni Mohebbi, Nilufar Dinçel, Nida Temizkan Braconnier, Philippe Gilbert, Rodney D Sambo, Adamu Tasic, Velibor Henne, Thomas Bockenhauer, Detlef (2020) Nephrology Dialysis Transplantation — (2020)
    • Journal article
    Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
    Devane, John Ott, Elisabeth Olinger, Eric[UCL] Epting, Daniel Decker, Eva Friedrich, Anja Bachmann, Nadine Renschler, Gina Eisenberger, Tobias Briem-Richter, Andrea Grabhorn, Enke Freya Powell, Laura Wilson, Ian J Rice, Sarah J Miles, Colin G Wood, Katrina Genomics England Research Consortium Trivedi, Palak Hirschfield, Gideon Pietrobattista, Andrea Wohler, Elizabeth Mezina, Anya Sobreira, Nara Agolini, Emanuele Maggiore, Giuseppe Dahmer-Heath, Mareike Yilmaz, Ali Boerries, Melanie Metzger, Patrick Schell, Christoph Grünewald, Inga Konrad, Martin König, Jens Schlevogt, Bernhard Sayer, John A Bergmann, Carsten (2022) American journal of human genetics — Vol. 109, no.5, p. 928-943 (2022)
    • Journal article
    Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
    Aymé, Ségolène Bockenhauer, Detlef Day, Simon Devuyst, Olivier[UCL] Guay-Woodford, Lisa M. Ingelfinger, Julie R. Klein, Jon B. Knoers, Nine V.A.M. Perrone, Ronald D. Roberts, Julia Schaefer, Franz Torres, Vicente E. Cheung, Michael Wheeler, David C. Winkelmayer, Wolfgang C. Angelis, Aris Antignac, Corinne Bae, Kyongtae Bergmann, Carsten Bleyer, Anthony J. Bos, Marjolein Budde, Klemens Bull, Katherine Chauveau, Dominique Cnaan, Avital Cornel, Martina Cosyns, Etienne de la Fosse, Jane Ding, Jie Gear, Susie Goodship, Timothy H.J. Goodyer, Paul Gross, Oliver Harr, Nicole Harris, Peter C. Harris, Tess Höfele, Julia Hogan, Marie C. Hoorn, Ewout Horie, Shigeo Kashtan, Clifford E. Kerecuk, Larissa Kleta, Robert Konrad, Martin Langman, Craig B. Mariz, Segundo McKerracher, Gayle Nieuwenhoven, Annet Odland, Dwight Olinger, Eric Ortiz, Alberto Pei, York Pirson, Yves[UCL] Rayner, Brian L. Remuzzi, Giuseppe Renault, Daniel Salomon, Rémi Servais, Aude Smith, Richard J. Soliman, Neveen A. Stengel, Bénédicte Storm, Marjolein Torra, Roser van't Hoff, William Vargas-Poussou, Rosa Vroom, Elizabeth Wanner, Christoph Yap, Hui-Kim (2017) Kidney International — Vol. 92, p. 796-808 (2017)
    • Journal article
    Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome
    Riveira-Munoz, Eva[UCL] Devuyst, Olivier[UCL] Belge, Hendrica[UCL] Jeck, Nikola Strompf, Laurence Vargas-Poussou, Rosa Jeunemaître, Xavier Blanchard, Anne Knoers, Nine V. Konrad, Martin[UCL] Dahan, Karin[UCL] (2008) Nephrology, Dialysis, Transplantation — Vol. 23, no. 10, p. 3120-3125 (2008)