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Affichage: 15 résultats.
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference.
    Levey, Andrew S Eckardt, Kai-Uwe Dorman, Nijsje M Christiansen, Stacy L Hoorn, Ewout J Ingelfinger, Julie R Inker, Lesley A Levin, Adeera Mehrotra, Rajnish Palevsky, Paul M Perazella, Mark A Tong, Allison Allison, Susan J Bockenhauer, Detlef Briggs, Josephine P Bromberg, Jonathan S Davenport, Andrew Feldman, Harold I Fouque, Denis Gansevoort, Ron T Gill, John S Greene, Eddie L Hemmelgarn, Brenda R Kretzler, Matthias Lambie, Mark Lane, Pascale H Laycock, Joseph Leventhal, Shari E Mittelman, Michael Morrissey, Patricia Ostermann, Marlies Rees, Lesley Ronco, Pierre Schaefer, Franz St Clair Russell, Jennifer Vinck, Caroline Walsh, Stephen B Weiner, Daniel E Cheung, Michael Jadoul, Michel[UCL] Winkelmayer, Wolfgang C (2020) Kidney international — Vol. 97, no. 6, p. 1117-1129 (2020)
    • 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
    An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
    Emma, Francesco Hoff, William van’t Hohenfellner, Katharina Topaloglu, Rezan Greco, Marcella Ariceta, Gema Bettini, Chiara Bockenhauer, Detlef Veys, Koenraad Pape, Lars Hulton, Sally Collin, Suzanne Ozaltin, Fatih Servais, Aude Deschênes, Georges Novo, Robert Bertholet-Thomas, Aurélia Oh, Jun Cornelissen, Elisabeth Janssen, Mirian Haffner, Dieter Ravà, Lucilla Antignac, Corinne Devuyst, Olivier[UCL] Niaudet, Patrick Levtchenko, Elena (2021) Kidney International — Vol. 100, no. 5, p. 1112-1123 (2021)
    • Article de périodique
    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)
    • 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
    Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
    Hannan, Fadil M Howles, Sarah A Rogers, Angela Cranston, Treena Gorvin, Caroline M Babinsky, Valerie N Reed, Anita A Thakker, Clare E Bockenhauer, Detlef Brown, Rosalind S Connell, John M Cook, Jacqueline Darzy, Ken Ehtisham, Sarah Graham, Una Hulse, Tony Hunter, Steven J Izatt, Louise Kumar, Dhavendra McKenna, Malachi J McKnight, John A Morrison, Patrick J Mughal, M Zulf O'Halloran, Domhnall Pearce, Simon H Porteous, Mary E Rahman, Mushtaqur Richardson, Tristan Robinson, Robert Scheers, Isabelle[UCL] Siddique, Haroon Van't Hoff, William G Wang, Timothy Whyte, Michael P Nesbit, M Andrew Thakker, Rajesh V (2015) Human Molecular Genetics — Vol. 24, no.18, p. 5079-5092 (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
    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)
    • Article de périodique
    Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
    Köttgen, Anna Cornec-Le Gall, Emilie Halbritter, Jan Kiryluk, Krzysztof Mallett, Andrew J. Parekh, Rulan S. Rasouly, Hila Milo Sampson, Matthew G. Tin, Adrienne Antignac, Corinne Ars, Elisabet Bergmann, Carsten Bleyer, Anthony J. Bockenhauer, Detlef Devuyst, Olivier[UCL] Florez, Jose C. Fowler, Kevin J. Franceschini, Nora Fukagawa, Masafumi Gale, Daniel P. Gbadegesin, Rasheed A. Goldstein, David B. Grams, Morgan E. Greka, Anna Gross, Oliver Guay-Woodford, Lisa M. Harris, Peter C. Hoefele, Julia Hung, Adriana M. Knoers, Nine V.A.M. Kopp, Jeffrey B. Kretzler, Matthias Lanktree, Matthew B. Lipska-Ziętkiewicz, Beata S. Nicholls, Kathleen Nozu, Kandai Ojo, Akinlolu Parsa, Afshin Pattaro, Cristian Pei, York Pollak, Martin R. Rhee, Eugene P. Sanna-Cherchi, Simone Savige, Judy Sayer, John A. Scolari, Francesco Sedor, John R. Sim, Xueling Somlo, Stefan Susztak, Katalin Tayo, Bamidele O. Torra, Roser van Eerde, Albertien M. Weinstock, André Winkler, Cheryl A. Wuttke, Matthias Zhang, Hong King, Jennifer M. Cheung, Michael Jadoul, Michel[UCL] Winkelmayer, Wolfgang C. Gharavi, Ali G. (2022) Kidney International — Vol. 101, no. 6, p. 1126-1141 (2022)
    • Article de périodique
    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)
    • Article de périodique
    ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
    De Rechter, Stéphanie Bockenhauer, Detlef Guay-Woodford, Lisa M Liu, Isaac Mallett, Andrew J Soliman, Neveen A Sylvestre, Lucimary C Schaefer, Franz Liebau, Max C Mekahli, Djalila ADPedKD Consortium Godefroid, Nathalie[UCL] Ranguelov, Nadejda[UCL] (2019) Kidney international reports — Vol. 4, no.9, p. 1271-1284 (2019)
    • Article de périodique
    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)
    • Article de périodique
    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)