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Affichage: 9 résultats.
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    Unraveling Human AQP5-PIP Molecular Interaction and Effect on AQP5 Salivary Glands Localization in SS Patients.
    Chivasso, Clara Nesverova, Veronika Järvå, Michael Blanchard, Anne Rose, Kristie L Öberg, Fredrik Kryh Wang, Zhen Martin, Maud Lhotellerie, Florent Zindy, Egor Teodoro Junqueira, Bruna Rayane[UCL] Leroy, Karelle Vanhollebeke, Benoit Delforge, Valérie Bolaky, Nargis Perret, Jason Soyfoo, Muhammad Shahnawaz Moscato, Stefania Baldini, Chiara Chaumont, François[UCL] Mattii, Letizia Schey, Kevin L Myal, Yvonne Törnroth-Horsefield, Susanna Delporte, Christine (2021) Cells — Vol. 10, no.8, p. 1-19 (2021)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)