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Displaying 17 results.
    • Journal article
    The rhesus protein RhCG : a new perspective in ammonium transport and distal urinary acidification.
    Wagner, Carsten A Devuyst, Olivier[UCL] Belge, Hendrica[UCL] Bourgeois, Soline Houillier, Pascal (2011) Kidney international — Vol. 79, no. 2, p. 154-161 (2011)
    • 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
    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
    Haploinsufficiency of the ammonia transporter Rhcg predisposes to chronic acidosis: Rhcg is critical for apical and basolateral ammonia transport in the mouse collecting duct
    Bourgeois, Soline Bounoure, Lisa Christensen, Erik I. Ramakrishnan, Suresh K. Houillier, Pascal Devuyst, Olivier[UCL] Wagner, Carsten A. (2012) Journal of Biological Chemistry — Vol. 288, no. 8, p. 5518-5529 (2012)
    • Journal article
    Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
    Jaureguiberry, Graciana De la Dure-Molla, Muriel Parry, David Quentric, Mickael Himmerkus, Nina Koike, Toshiyasu Poulter, James Klootwijk, Enriko Robinette, Steven L Howie, Alexander J Patel, Vaksha Figueres, Marie-Lucile Stanescu, Horia C Issler, Naomi Nicholson, Jeremy K Bockenhauer, Detlef Laing, Christopher Walsh, Stephen B McCredie, David A Povey, Sue Asselin, Audrey Picard, Arnaud Coulomb, Aurore Medlar, Alan J Bailleul-Forestier, Isabelle Verloes, Alain Le Caignec, Cedric Roussey, Gwenaelle Guiol, Julien Isidor, Bertrand Logan, Clare Shore, Roger Johnson, Colin Inglehearn, Christopher Al-Bahlani, Suhaila Schmittbuhl, Matthieu Clauss, François Huckert, Mathilde Laugel, Virginie Ginglinger, Emmanuelle Pajarola, Sandra Spartà, Giuseppina Bartholdi, Deborah Rauch, Anita Addor, Marie-Claude Yamaguti, Paulo M Safatle, Heloisa P Acevedo, Ana Carolina Martelli-Júnior, Hercílio dos Santos Netos, Pedro E Coletta, Ricardo D Gruessel, Sandra Sandmann, Carolin Ruehmann, Denise Langman, Craig B Scheinman, Steven J Ozdemir-Ozenen, Didem Hart, Thomas C Hart, P Suzanne Neugebauer, Ute Schlatter, Eberhard Houillier, Pascal Gahl, William A Vikkula, Miikka Bloch-Zupan, Agnès Bleich, Markus Kitagawa, Hiroshi Unwin, Robert J Mighell, Alan Berdal, Ariane Kleta, Robert (2012) Nephron. Physiology — Vol. 122, no.1-2, p. 1-6 (2012)
    • 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
    A role for Rhesus factor Rhcg in renal ammonium excretion and male fertility
    Biver, Sophie Belge, Hendrica[UCL] Bourgeois, Soline Van Vooren, Pascale Nowik, Marta Scohy, Sophie Houillier, Pascal Szpirer, Josiane Szpirer, Claude Wagner, Carsten A. Devuyst, Olivier[UCL] Marini, Anna Maria (2008) Nature : international weekly journal of science — Vol. 456, no. 7220, p. 339-343 (2008)
    • Journal article
    Limitations of non-corrected and albumin-corrected total calcium concentrations in CKD patients - Reply
    Froissart, Marc Houillier, Pascal Labriola, Laura[UCL] Wallemacq, Pierre[UCL] Jadoul, Michel[UCL] (2009) Nephrology, Dialysis, Transplantation — Vol. 24, no. 7, p. 2291-2292 (2009)
    • 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
    The excretion of uromodulin is modulated by the calcium-sensing receptor
    Tokonami, Natsuko Olinger, Eric Debaix, Huguette Houillier, Pascal Devuyst, Olivier[UCL] (2018) Kidney International — Vol. 94, no.5, p. 882-886 (2018)
    • Journal article
    Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.
    Corre, Tanguy Olinger, Eric Harris, Sarah E Traglia, Michela Ulivi, Sheila Lenarduzzi, Stefania Belge, Hendrica[UCL] Youhanna, Sonia Tokonami, Natsuko Bonny, Olivier Houillier, Pascal Polasek, Ozren Deary, Ian J Starr, John M Toniolo, Daniela Gasparini, Paolo Vollenweider, Peter Hayward, Caroline Bochud, Murielle Devuyst, Olivier[UCL] (2017) Pflügers Archiv - European journal of physiology — Vol. 469, no. 1, p. 91-103 (2017)
    • Journal article
    Claudins: a tale of interactions in the thick ascending limb
    Olinger, Eric Houillier, Pascal Devuyst, Olivier[UCL] (2018) Kidney International — Vol. 93, no.3, p. 535-537 (2018)
    • 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
    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
    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
    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
    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)