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Displaying 15 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
    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
    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
    Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
    Knoers, Nine Antignac, Corinne Bergmann, Carsten Dahan, Karin[UCL] Giglio, Sabrina Heidet, Laurence Lipska-Ziętkiewicz, Beata S Noris, Marina Remuzzi, Giuseppe Vargas-Poussou, Rosa Schaefer, Franz (2022) Nephrology, dialysis, transplantation — Vol. 37, no. 2, p. 239-254 (2022)
    • Journal article
    Observations of a large Dent disease cohort.
    Blanchard, Anne Curis, Emmanuel Guyon-Roger, Tiphaine Kahila, Diana Treard, Cyrielle Baudouin, Véronique Bérard, Etienne Champion, Gérard Cochat, Pierre Dubourg, Julie de la Faille, Renaud Devuyst, Olivier[UCL] Deschenes, Georges Fischbach, Michel Harambat, Jérôme Houillier, Pascal Karras, Alexandre Knebelmann, Bertrand Lavocat, Marie-Pierre Loirat, Chantal Merieau, Elodie Niaudet, Patrick Nobili, François Novo, Robert Salomon, Rémi Ulinski, Tim Jeunemaître, Xavier Vargas-Poussou, Rosa (2016) Kidney International — Vol. 90, no. 2, p. 430-439 (2016)
    • Journal article
    Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
    Ashton, Emma J. Legrand, Anne Benoit, Valerie Roncelin, Isabelle Venisse, Annabelle Zennaro, Maria-Christina Jeunemaitre, Xavier Iancu, Daniela van’t Hoff, William G. Walsh, Stephen B. Godefroid, Nathalie[UCL] Rotthier, Annelies Del Favero, Jurgen Devuyst, Olivier[UCL] Schaefer, Franz Jenkins, Lucy A. Kleta, Robert Dahan, Karin[UCL] Vargas-Poussou, Rosa Bockenhauer, Detlef (2018) Kidney international — Vol. 93, no. 4, p. 961-967 (2018)
    • Journal article
    Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study
    Blanchard, Anne Vallet, Marion Dubourg, Laurence Hureaux, Marguerite Allard, Julien Haymann, Jean-Philippe de la Faille, Renaud Arnoux, Armelle Dinut, Aurelie Bergerot, Damien Becker, Pierre-Hadrien Courand, Pierre-Yves Baron, Stéphanie Houillier, Pascal Tack, Ivan Devuyst, Olivier[UCL] Jeunemaitre, Xavier Azizi, Michel Vargas-Poussou, Rosa (2019) Journal of the American Society of Nephrology — Vol. 30, no. 8, p. 1534-1545 (2019)
    • Journal article
    Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
    Hadj-Rabia, Smail Brideau, Gaelle Al-Sarraj, Yasser Maroun, Rachid C Figueres, Marie-Lucile Leclerc-Mercier, Stéphanie Olinger, Eric Baron, Stéphanie Chaussain, Catherine Nochy, Dominique Taha, Rowaida Z Knebelmann, Bertrand Joshi, Vandana Curmi, Patrick A Kambouris, Marios Vargas-Poussou, Rosa Bodemer, Christine Devuyst, Olivier[UCL] Houillier, Pascal El-Shanti, Hatem (2017) Genetics in Medicine — Vol. 20, no.2, p. 190-201 (2017)
    • Journal article
    High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults
    Hureaux, Marguerite Ashton, Emma Dahan, Karin[UCL] Houillier, Pascal Blanchard, Anne Cormier, Catherine Koumakis, Eugenie Iancu, Daniela Belge, Hendrica Hilbert, Pascale Rotthier, Annelies Del Favero, Jurgen Schaefer, Franz Kleta, Robert Bockenhauer, Detlef Jeunemaitre, Xavier Devuyst, Olivier[UCL] Walsh, Stephen B. Vargas-Poussou, Rosa (2019) Kidney International — Vol. 96, no. 6, p. 1408-1416 (2019)
    • 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
    Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
    Mansour-Hendili, Lamisse Blanchard, Anne Le Pottier, Nelly Roncelin, Isabelle Lourdel, Stéphane Treard, Cyrielle González, Wendy Vergara-Jaque, Ariela Morin, Gilles Colin, Estelle Holder-Espinasse, Muriel Bacchetta, Justine Baudouin, Véronique Benoit, Stéphane Bérard, Etienne Bourdat-Michel, Guylhène Bouchireb, Karim Burtey, Stéphane Cailliez, Mathilde Cardon, Gérard Cartery, Claire Champion, Gerard Chauveau, Dominique Cochat, Pierre Dahan, Karin De la Faille, Renaud Debray, François-Guillaume Dehoux, Laurenne Deschenes, Georges Desport, Estelle Devuyst, Olivier[UCL] Dieguez, Stella Emma, Francesco Fischbach, Michel Fouque, Denis Fourcade, Jacques François, Hélène Gilbert-Dussardier, Brigitte Hannedouche, Thierry Houillier, Pascal Izzedine, Hassan Janner, Marco Karras, Alexandre Knebelmann, Bertrand Lavocat, Marie-Pierre Lemoine, Sandrine Leroy, Valérie Loirat, Chantal Macher, Marie-Alice Martin-Coignard, Dominique Morin, Denis Niaudet, Patrick Nivet, Hubert Nobili, François Novo, Robert Faivre, Laurence Rigothier, Claire Roussey-Kesler, Gwenaëlle Salomon, Remi Schleich, Andreas Sellier-Leclerc, Anne-Laure Soulami, Kenza Tiple, Aurélien Ulinski, Tim Vanhille, Philippe Van Regemorter, Nicole Jeunemaître, Xavier Vargas-Poussou, Rosa (2015) Human Mutation — Vol. 36, no. 8, p. 743-752 (2015)
    • Journal article
    Spectrum of mutations in Gitelman syndrome
    Vargas-Poussou, Rosa Dahan, Karin[UCL] Kahila, Diana Venisse, Annabelle Riveira Munoz, Eva[UCL] Debaix, Huguette[UCL] Grisart, Bernard Bridoux, Franck Unwin, Robert Moulin, Bruno Haymann, Jean-Philippe Vantyghem, Marie-Christine Rigothier, Claire Dussol, Bertrand Godin, Michel Nivet, Hubert Dubourg, Laurence Tack, Ivan Gimenez-Roqueplo, Anne-Paule Houillier, Pascal Blanchard, Anne Devuyst, Olivier[UCL] Jeunemaitre, Xavier (2011) Journal of the American Society of Nephrology — Vol. 22, no. 4, p. 693-703 (2011)
    • 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)