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Affichage: 11 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
    Vaccination practices in pediatric transplantation: A survey among member centers of the European reference network <scp>TransplantChild</scp>
    Donà, Daniele Bravo‐Gallego, Luz Yadira Remacha, Esteban Frauca Cananzi, Mara Gastaldi, Andrea Canizalez, Juan Torres Stéphenne, Xavier[UCL] Lacaille, Florence Lindemans, Caroline Calore, Elisabetta Galea, Nathalie Benetti, Elisa Nachbaur, Edith Sandes, Ana Rita Teixeira, Ana Ferreira, Sandra Klaudel‐Dreszler, Maja Ackermann, Oanez Boyer, Olivia Espinosa, Laura Guereta, Luis García Sciveres, Marco Fischler, Björn Schwerk, Nicolaus Neland, Mette Nicastro, Emanuele Dello Strologo, Luca Toporski, Jacek Vainumae, Inga Rascon, Jelena Urbonas, Vaidotas del Rosal, Teresa López‐Granados, Eduardo Perilongo, Giorgio Baker, Alastair Vega, Paloma Jara (2023) Pediatric Transplantation — (2023)
    • Article de périodique
    Pediatric transplantation in Europe during the COVID‐19 pandemic: early impact on activity and healthcare
    Doná, Daniele Torres Canizales, Juan Benetti, Elisa Cananzi, Mara De Corti, Federica Calore, Elisabetta Hierro, Loreto Ramos Boluda, Esther Melgosa Hijosa, Marta Garcia Guereta, Luis Pérez‐Martínez, Antonio Barrios, Maribel Costa Reis, Patricia Teixeira, Ana Lopes, Maria Francelina Kaliciński, Piotr Branchereau, Sophie Boyer, Olivia Debray, Dominque Sciveres, Marco Wennberg, Lars Fischler, Björn Barany, Peter Baker, Alastair Baumann, Ulrich Schwerk, Nicolaus Nicastro, Emanuele Candusso, Manila Toporski, Jacek Sokal, Etienne[UCL] Stéphenne, Xavier[UCL] Lindemans, Caroline Miglinas, Marius Rascon, Jelena Jara, Paloma (2020) Clinical Transplantation — Vol. 34, no. 10, p. e14063 [1-8] (2020)
    • Article de périodique
    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
    Lovric, Svjetlana Goncalves, Sara Gee, Heon Yung Oskouian, Babak Srinivas, Honnappa Choi, Won-Il Shril, Shirlee Ashraf, Shazia Tan, Weizhen Rao, Jia Airik, Merlin Schapiro, David Braun, Daniela A Sadowski, Carolin E Widmeier, Eugen Jobst-Schwan, Tilman Schmidt, Johanna Magdalena Girik, Vladimir Capitani, Guido Suh, Jung H Lachaussée, Noëlle Arrondel, Christelle Patat, Julie Gribouval, Olivier Furlano, Monica Boyer, Olivia Schmitt, Alain Vuiblet, Vincent Hashmi, Seema Wilcken, Rainer Bernier, Francois P Innes, A Micheil Parboosingh, Jillian S Lamont, Ryan E Midgley, Julian P Wright, Nicola Majewski, Jacek Zenker, Martin Schaefer, Franz Kuss, Navina Greil, Johann Giese, Thomas Schwarz, Klaus Catheline, Vilain Schanze, Denny Franke, Ingolf Sznajer, Yves[UCL] Truant, Anne-Sophie[UCL] Adams, Brigitte Désir, Julie Biemann, Ronald Pei, York Ars, Elisabet Lloberas, Nuria Madrid, Alvaro Dharnidharka, Vikas R Connolly, Anne M Willing, Marcia C Cooper, Megan A Lifton, Richard P Simons, Matias Riezman, Howard Antignac, Corinne Saba, Julie D Hildebrandt, Friedhelm (2017) Journal of Clinical Investigation — Vol. 127, no.3, p. 912-928 (2017)
    • Article de périodique
    Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
    Nalcacioglu, Hulya Dunand, Oliver Mastrangelo, Antonio Murer, Luisa Emma, Francesco Ruzgiene, Dovile Taranta-Janusz, Katarzyna Balasz-Chmielewska, Irena Miklaszewska, Monika Stanczyk, Malgorzata Sikora, Przemyslaw Kowalewska, Claudia Szczepanska, Maria Teixeira, Ana Rachisan, Andreea Papachristou, Fotios Paripović, Dušan Prikhodina, Larisa Jilani, Houweyda Bayazit, Aysun Karabay Soylu, Alper Candan, Cengiz Sever, Lale Emre, Sevinc Cicek, Neslihan Akinci, Nurver Mir, Sevgi Poyrazoğlu, Hakan M. Tabel, Yilmaz Mencarelli, Francesca Burgmaier, Kathrin Kilian, Samuel Arbeiter, Klaus Atmis, Bahriye Büscher, Anja Derichs, Ute Dursun, Ismail Duzova, Ali Eid, Loai Akram Galiano, Matthias Gessner, Michaela Gokce, Ibrahim Haeffner, Karsten Hooman, Nakysa Jankauskiene, Augustina Körber, Friederike Longo, Germana Massella, Laura Mekahli, Djalila Miloševski-Lomić, Gordana Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Burgmaier, Kathrin Kilian, Samuel Arbeiter, Klaus Atmis, Bahriye Büscher, Anja Derichs, Ute Dursun, Ismail Duzova, Ali Eid, Loai Akram Galiano, Matthias Gessner, Michaela Gokce, Ibrahim Haeffner, Karsten Hooman, Nakysa Jankauskiene, Augustina Longo, Germana Massella, Laura Mekahli, Djalila Miloševski-Lomić, Gordana Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Potemkina, Alexandra Ranguelov, Nadejda[UCL] Collard, Laure De Mul, Aurélie Feldkoetter, Markus Seeman, Tomas Zieg, Jakub Thumfart, Julia Grundmann, Franziska Buchholz, Björn Pape, Lars Gross, Oliver Patzer, Ludwig Schild, Raphael Haffner, Dieter Bernhardt, Wanja Wuehl, Elke Henn, Michael Halbritter, Jan Klaus, Günter Lechner, Felix Lange-Sperandio, Bärbel Uetz, Barbara Benz, Marcus König, Jens Staude, Hagen Wurm, Donald Bald, Martin Soliman, Neveen A. Ariceta, Gema Rodriguez, Juan David Gonzalez de la Cerda Ojeda, Francisco Harambat, Jerome Ranchin, Bruno Fila, Marc Dossier, Claire Boyer, Olivia Marlais, Matko (2021) Scientific Reports — Vol. 11, no.1, p. 1-10 (2021)
    • Article de périodique
    NPHS2 mutations in steroid-resistant nephrotic syndrome: A mutation update and the associated phenotypic spectrum
    Bouchireb, Karim Boyer, Olivia Gribouval, Olivier Nevo, Fabien Huynh-Cong, Evelyne Morinière, Vincent Campait, Raphaëlle Ars, Elisabet Brackman, Damien Dantal, Jacques Eckart, Philippe Gigante, Maddalena Lipska, Beata S. Liutkus, Aurélia Megarbane, André Mohsin, Nabil Ozaltin, Fatih Saleem, Moin A. Schaefer, Franz Soulami, Kenza Torra, Roser Garcelon, Nicolas Mollet, Géraldine Dahan, Karin[UCL] Antignac, Corinne (2014) Human Mutation — Vol. 35, no. 2, p. 178-186 (2014)
    • 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
    Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
    Burgmaier, Kathrin Brinker, Leonie Erger, Florian Beck, Bodo B Benz, Marcus R Bergmann, Carsten Boyer, Olivia Collard, Laure Dafinger, Claudia Fila, Marc Kowalewska, Claudia Lange-Sperandio, Bärbel Massella, Laura Mastrangelo, Antonio Mekahli, Djalila Miklaszewska, Monika Ortiz-Bruechle, Nadina Patzer, Ludwig Prikhodina, Larisa Ranchin, Bruno Ranguelov, Nadejda[UCL] Schild, Raphael Seeman, Tomas Sever, Lale Sikora, Przemyslaw Szczepanska, Maria Teixeira, Ana Thumfart, Julia Uetz, Barbara Weber, Lutz Thorsten Wühl, Elke Zerres, Klaus ESCAPE Study group GPN study group Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph ARegPKD consortium (2021) Kidney international — Vol. 100, no.3, p. 650-659 (2021)
    • Article de périodique
    Early and Late Factors Impacting Patient and Graft Outcome in Pediatric Liver Transplantation: Summary of an ESPGHAN Monothematic Conference.
    McLin, Valérie A Allen, Upton Boyer, Olivia Bucuvalas, John Colledan, Michele Cuturi, Maria-Cristina d'Antiga, Lorenzo Debray, Dominique Dezsofi, Antal Goyet, Jean de Ville de Dhawan, Anil Durmaz, Ozlem Falk, Christine Feng, Sandy Fischler, Björn Franchi-Abella, Stéphanie Frauca, Esteban Ganschow, Rainer Gottschalk, Stephen Hadzic, Nedim Hierro, Loreto Horslen, Simon Hubscher, Stefan Karam, Vincent Kelly, Deirdre Maecker-Kolhoff, Britta Mazariegos, George McKiernan, Patrick Melk, Anette Nobili, Valerio Ozgenç, Funda Reding, Raymond[UCL] Sciveres, Marco Sharif, Khalid Socha, Piotr Toso, Christian Vajro, Pietro Verma, Anita Wildhaber, Barbara E Baumann, Ulrich (2017) Journal of Pediatric Gastroenterology and Nutrition — Vol. 65, no. 3, p. e53-e59 (2017)
    • 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)
    • Article de périodique
    Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.
    Deesker, Lisa J Karacoban, Hazal A Metry, Elisabeth L Garrelfs, Sander F Bacchetta, Justine Boyer, Olivia Collard, Laure Devresse, Arnaud[UCL] Hayes, Wesley Hulton, Sally-Anne Martin-Higueras, Cristina Moochhala, Shabbir H Neuhaus, Thomas J Oh, Jun Prikhodina, Larisa Sikora, Przemyslaw Oosterveld, Michiel J S Groothoff, Jaap W Mandrile, Giorgia Beck, Bodo B (2024) Kidney international reports — Vol. 9, no.10, p. 3006-3015 (2024)