User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 15 results.
    • Journal article
    Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome
    Fakhouri, Fadi Jablonski, Mathieu Lepercq, Jacques Blouin, Jacques Benachi, Alexandra Hourmant, Maryvonne Pirson, Yves[UCL] Dürrbach, Antoine Grünfeld, Jean-Pierre Knebelmann, Bertrand Fremeaux-Bacchi, Veronique (2008) Blood — Vol. 112, no. 12, p. 4542-4545 (2008)
    • 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
    Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
    Bollée, Guillaume Dahan, Karin[UCL] Flamant, Martin Morinière, Vincent Pawtowski, Audrey Heidet, Laurence Lacombe, Didier Devuyst, Olivier[UCL] Pirson, Yves[UCL] Antignac, Corinne Knebelmann, Bertrand (2011) Clinical Journal of the American Society of Nephrology — Vol. 6, no. 10, p. 2429-38 (2011)
    • Journal article
    Cystinuria: clinical practice recommendation.
    Servais, Aude Thomas, Kay Dello Strologo, Luca Sayer, John A Bekri, Soumeya Bertholet-Thomas, Aurelia Bultitude, Matthew Capolongo, Giovanna Cerkauskiene, Rimante Daudon, Michel Doizi, Steeve Gillion, Valentine[UCL] Gràcia-Garcia, Silvia Halbritter, Jan Heidet, Laurence van den Heijkant, Marleen Lemoine, Sandrine Knebelmann, Bertrand Emma, Francesco Levtchenko, Elena Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN (2021) Kidney international — Vol. 99, no. 1, p. 48-58 (2021)
    • Journal article
    HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial.
    Bais, Thomas Meijer, Esther Kramers, Bart J Vart, Priya Vervloet, Marc Salih, Mahdi Bammens, Bert Demoulin, Nathalie[UCL] Todorova, Polina Müller, Roman-Ulrich Halbritter, Jan Paliege, Alexander Gall, Emilie Cornec-Le Knebelmann, Bertrand Torra, Roser Ong, Albert C M Karet Frankl, Fiona E Gansevoort, Ron T (2024) Trials — Vol. 25, no.1, p. 120 (2024)
    • 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
    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
    X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
    Jais, Jean Philippe Knebelmann, Bertrand Giatras, Iannis De Marchi, Mario Rizzoni, Gianfranco Renieri, Alessandra Weber, Manfred Gross, Olivier Netzer, Kai-Olaf Flinter, Frances Pirson, Yves[UCL] Verellen, Christine[UCL] Wieslander, Jörgen Persson, Ulf Tryggvason, Karl Martin, Paula Hertz, Jens Michael Schröder, Cornelis Sanak, Marek Krejcova, Sarka Carvalho, Maria Fernanda Saus, Juan Antignac, Corinne Smeets, Hubert Gubler, Marie Claire (2000) Journal of the American Society of Nephrology — Vol. 11, no.4, p. 649-657 (2000)
    • 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
    Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice.
    Gansevoort, Ron T Arici, Mustafa Benzing, Thomas Birn, Henrik Capasso, Giovambattista Covic, Adrian Devuyst, Olivier[UCL] Drechsler, Christiane Eckardt, Kai-Uwe Emma, Francesco Knebelmann, Bertrand Le Meur, Yannick Massy, Ziad A Ong, Albert C M Ortiz, Alberto Schaefer, Franz Torra, Roser Vanholder, Raymond Więcek, Andrzej Zoccali, Carmine Van Biesen, Wim (2016) Nephrology, Dialysis, Transplantation — Vol. 31, no. 3, p. 337-348 (2016)
    • Journal article
    SGLT2-Inhibition in patients with Alport syndrome
    Boeckhaus, Jan Gale, Daniel P. Simon, James Ding, Jie Zhang, Yanqin Bergmann, Carsten Turner, A. Neil Hall, Matthew Sayer, John A. Srivastava, Shalabh Kang, Hee Gyung Cerkauskaite-Kerpauskiene, Agne Gillion, Valentine[UCL] Claes, Kathleen J. Krueger, Bastian de Fallois, Jonathan Walden, Ulrike Choi, Mira Schueler, Markus Mueller, Roman-Ulrich Todorova, Polina Hohenstein, Bernd Zeisberg, Michael Friede, Tim Knebelmann, Bertrand Halbritter, Jan Gross, Oliver (2024) Kidney International Reports — (2024)
    • Journal article
    SGLT2-Inhibition in patients with Alport syndrome
    Boeckhaus, Jan Gale, Daniel P. Simon, James Ding, Jie Zhang, Yanqin Bergmann, Carsten Turner, A. Neil Hall, Matthew Sayer, John A. Srivastava, Shalabh Kang, Hee Gyung Cerkauskaite-Kerpauskiene, Agne Gillion, Valentine[UCL] Claes, Kathleen J. Krueger, Bastian de Fallois, Jonathan Walden, Ulrike Choi, Mira Schueler, Markus Mueller, Roman-Ulrich Todorova, Polina Hohenstein, Bernd Zeisberg, Michael Friede, Tim Knebelmann, Bertrand Halbritter, Jan Gross, Oliver (2024) Kidney International Reports — (2024)
    • Journal article
    Autosomal dominant polycystic kidney disease: the changing face of clinical management.
    Ong, Albert C M Devuyst, Olivier[UCL] Knebelmann, Bertrand Walz, Gerd ERA-EDTA Working Group for Inherited Kidney Diseases (2015) The Lancet — Vol. 385, no. 9981, p. 1993-2002 (2015)
    • Journal article
    Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
    Lemoine, Hugo Raud, Loann Foulquier, François Sayer, John A Lambert, Baptiste Olinger, Eric[UCL] Lefèvre, Siriane Knebelmann, Bertrand Harris, Peter C Trouvé, Pascal Desprès, Aurore Duneau, Gabrielle Matignon, Marie Poyet, Anais Jourde-Chiche, Noémie Guerrot, Dominique Lemoine, Sandrine Seret, Guillaume Barroso-Gil, Miguel Bingham, Coralie Gilbert, Rodney Genomics England Research Consortium Genkyst Study Group Le Meur, Yannick Audrézet, Marie-Pierre Cornec-Le Gall, Emilie (2022) American journal of human genetics — Vol. 109, no.8, p. 1484-1499 (2022)