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Kidney international, 2013-06, Vol.83 (6), p.1052-1064
2013
Link zum Volltext
American journal of human genetics, 2017-11, Vol.101 (5), p.803-814
- De Tomasi, Lara
- David, Pierre
- Humbert, Camille
- Silbermann, Flora
- Arrondel, Christelle
- Tores, Frédéric
- Fouquet, Stéphane
- Desgrange, Audrey
- Niel, Olivier
- Bole-Feysot, Christine
- Nitschké, Patrick
- Roume, Joëlle
- Cordier, Marie-Pierre
- Pietrement, Christine
- Isidor, Bertrand
- Khau Van Kien, Philippe
- Gonzales, Marie
- Saint-Frison, Marie-Hélène
- Martinovic, Jelena
- Novo, Robert
- Piard, Juliette
- Cabrol, Christelle
- Verma, Ishwar C.
- Puri, Ratna
- Journel, Hubert
- Aziza, Jacqueline
- Gavard, Laurent
- Said-Menthon, Marie-Hélène
- Heidet, Laurence
- Saunier, Sophie
- Jeanpierre, Cécile
2017
Link zum Volltext
The New England journal of medicine, 2011-12, Vol.365 (25), p.2377-2388
- Boyer, Olivia
- Nevo, Fabien
- Plaisier, Emmanuelle
- Funalot, Benoit
- Gribouval, Olivier
- Benoit, Geneviève
- Cong, Evelyne Huynh
- Arrondel, Christelle
- Tête, Marie-Josèphe
- Montjean, Rodrick
- Richard, Laurence
- Karras, Alexandre
- Pouteil-Noble, Claire
- Balafrej, Leila
- Bonnardeaux, Alain
- Canaud, Guillaume
- Charasse, Christophe
- Dantal, Jacques
- Deschenes, Georges
- Deteix, Patrice
- Dubourg, Odile
- Petiot, Philippe
- Pouthier, Dominique
- Leguern, Eric
- Guiochon-Mantel, Anne
- Broutin, Isabelle
- Gubler, Marie-Claire
- Saunier, Sophie
- Ronco, Pierre
- Vallat, Jean-Michel
- Alonso, Miguel Angel
- Antignac, Corinne
- Mollet, Géraldine
2011
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American journal of human genetics, 2014-12, Vol.95 (6), p.637-648
- Colin, Estelle
- Huynh Cong, Evelyne
- Mollet, Géraldine
- Guichet, Agnès
- Gribouval, Olivier
- Arrondel, Christelle
- Boyer, Olivia
- Daniel, Laurent
- Gubler, Marie-Claire
- Ekinci, Zelal
- Tsimaratos, Michel
- Chabrol, Brigitte
- Boddaert, Nathalie
- Verloes, Alain
- Chevrollier, Arnaud
- Gueguen, Naig
- Desquiret-Dumas, Valérie
- Ferré, Marc
- Procaccio, Vincent
- Richard, Laurence
- Funalot, Benoit
- Moncla, Anne
- Bonneau, Dominique
- Antignac, Corinne
2014
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The Journal of biological chemistry, 2018-03, Vol.293 (11), p.4122-4133
2018
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Nature communications, 2019-09, Vol.10 (1), p.1-13, Article 3967
- Arrondel, Christelle
- Missoury, Sophia
- Snoek, Rozemarijn
- Patat, Julie
- Menara, Giulia
- Collinet, Bruno
- Liger, Dominique
- Durand, Dominique
- Gribouval, Olivier
- Boyer, Olivia
- Buscara, Laurine
- Martin, Gaëlle
- Machuca, Eduardo
- Nevo, Fabien
- Lescop, Ewen
- Braun, Daniela A.
- Boschat, Anne-Claire
- Sanquer, Sylvia
- Guerrera, Ida Chiara
- Revy, Patrick
- Parisot, Mélanie
- Masson, Cécile
- Boddaert, Nathalie
- Charbit, Marina
- Decramer, Stéphane
- Novo, Robert
- Macher, Marie-Alice
- Ranchin, Bruno
- Bacchetta, Justine
- Laurent, Audrey
- Collardeau-Frachon, Sophie
- van Eerde, Albertien M.
- Hildebrandt, Friedhelm
- Magen, Daniella
- Antignac, Corinne
- van Tilbeurgh, Herman
- Mollet, Géraldine
2019
Link zum Volltext
PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386
- Gonçalves, Sara
- Patat, Julie
- Guida, Maria Clara
- Lachaussée, Noelle
- Arrondel, Christelle
- Helmstädter, Martin
- Boyer, Olivia
- Gribouval, Olivier
- Gubler, Marie-Claire
- Mollet, Geraldine
- Rio, Marlène
- Charbit, Marina
- Bole-Feysot, Christine
- Nitschke, Patrick
- Huber, Tobias B
- Wheeler, Patricia G
- Haynes, Devon
- Juusola, Jane
- Billette de Villemeur, Thierry
- Nava, Caroline
- Afenjar, Alexandra
- Keren, Boris
- Bodmer, Rolf
- Antignac, Corinne
- Simons, Matias
- Bellen, Hugo J.
2018
Link zum Volltext
Genetics in Medicine Open, 2024, Vol.2, p.101032
2024
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PLoS genetics, 2018-10, Vol.14 (10), p.e1007748-e1007748
- Gonçalves, Sara
- Patat, Julie
- Guida, Maria Clara
- Lachaussée, Noelle
- Arrondel, Christelle
- Helmstädter, Martin
- Boyer, Olivia
- Gribouval, Olivier
- Gubler, Marie-Claire
- Mollet, Geraldine
- Rio, Marlène
- Charbit, Marina
- Bole-Feysot, Christine
- Nitschke, Patrick
- Huber, Tobias B
- Wheeler, Patricia G
- Haynes, Devon
- Juusola, Jane
- de Villemeur, Thierry Billette
- Nava, Caroline
- Afenjar, Alexandra
- Keren, Boris
- Bodmer, Rolf
- Antignac, Corinne
- Simons, Matias
2018
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Journal of the American Society of Nephrology, 2002, Vol.13 (1), p.65-74
2002
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Kidney international, 2002-06, Vol.61 (6), p.1947-1956
- Longo, Ilaria
- Porcedda, Paola
- Mari, Francesca
- Giachino, Daniela
- Meloni, Ilaria
- Deplano, Carla
- Brusco, Alfredo
- Bosio, Maurizio
- Massella, Laura
- Lavoratti, Giancarlo
- Roccatello, Dario
- Frascá, Giovanni
- Mazzucco, Gianna
- Muda, Andrea Onetti
- Conti, Maura
- Fasciolo, Federica
- Arrondel, Christelle
- Heidet, Laurence
- Renieri, Alessandra
- De Marchi, Mario
2002
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Journal of the American Society of Nephrology, 2001-01, Vol.12 (1), p.97-106
2001
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Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2435-2443
- Cong, Evelyne Huynh
- Bizet, Albane A.
- Boyer, Olivia
- Woerner, Stéphanie
- Gribouval, Olivier
- Filhol, Emilie
- Arrondel, Christelle
- Thomas, Sophie
- Silbermann, Flora
- Canaud, Guillaume
- Hachicha, Jamil
- Ben Dhia, Nasr
- Peraldi, Marie-Noëlle
- Harzallah, Kais
- Iftene, Daouia
- Daniel, Laurent
- Willems, Marjolaine
- Noel, Laure-Hélène
- Bole-Feysot, Christine
- Nitschké, Patrick
- Gubler, Marie-Claire
- Mollet, Géraldine
- Saunier, Sophie
- Antignac, Corinne
2014
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Clinical genetics, 2023-06, Vol.103 (6), p.693-698
2023
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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
- Truant, Anne S
- 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
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Kidney international, 2021-02, Vol.99 (2), p.405-409
2021
Link zum Volltext
Nature genetics, 2014-03, Vol.46 (3), p.299-304
2014
Link zum Volltext
Kidney international, 2023-08, Vol.104 (2), p.367-377
- Boisson, Marie
- Arrondel, Christelle
- Cagnard, Nicolas
- Morinière, Vincent
- Arkoub, Zaïna Aït
- Saei, Hassan
- Heidet, Laurence
- Kachmar, Jessica
- Hummel, Aurélie
- Knebelmann, Bertrand
- Bonnet-Dupeyron, Marie-Noëlle
- Isidor, Bertrand
- Izzedine, Hassane
- Legrand, Eric
- Couarch, Philippe
- Gribouval, Olivier
- Bole-Feysot, Christine
- Parisot, Mélanie
- Nitschké, Patrick
- Antignac, Corinne
- Dorval, Guillaume
2023
Link zum Volltext
Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2435-2443
- Huynh Cong, Evelyne
- Bizet, Albane A
- Boyer, Olivia
- Woerner, Stéphanie
- Gribouval, Olivier
- Filhol, Emilie
- Arrondel, Christelle
- Thomas, Sophie
- Silbermann, Flora
- Canaud, Guillaume
- Hachicha, Jamil
- Ben Dhia, Nasr
- Peraldi, Marie-Noëlle
- Harzallah, Kais
- Iftene, Daouia
- Daniel, Laurent
- Willems, Marjolaine
- Noel, Laure-Hélène
- Bole-Feysot, Christine
- Nitschké, Patrick
- Gubler, Marie-Claire
- Mollet, Géraldine
- Saunier, Sophie
- Antignac, Corinne
2014
Link zum Volltext
Human mutation, 2022-03, Vol.43 (3), p.347-361
- Jordan, Penelope
- Dorval, Guillaume
- Arrondel, Christelle
- Morinière, Vincent
- Tournant, Carole
- Audrezet, Marie‐Pierre
- Michel‐Calemard, Laurence
- Putoux, Audrey
- Lesca, Gaethan
- Labalme, Audrey
- Whalen, Sandra
- Loeuillet, Laurence
- Martinovic, Jelena
- Attie‐Bitach, Tania
- Bessières, Bettina
- Schaefer, Elise
- Scheidecker, Sophie
- Lambert, Laetitia
- Beneteau, Claire
- Patat, Olivier
- Boute‐Benejean, Odile
- Molin, Arnaud
- Guimiot, Fabien
- Fontanarosa, Nicolas
- Nizon, Mathilde
- Lefebvre, Mathilde
- Jeanpierre, Cécile
- Saunier, Sophie
- Heidet, Laurence
2022
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Biophysical journal, 2018-02, Vol.114 (3), p.60a-60a
2018
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Pediatric nephrology (Berlin, West), 2014-07, Vol.29 (7), p.1221-1230
2014
Link zum Volltext
Biochimica et biophysica acta. Molecular basis of disease, 2018-07, Vol.1864 (7), p.2448-2457
2018
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Nephrology, dialysis, transplantation, 2016-05, Vol.31 (suppl_1), p.i353-i353
2016
Link zum Volltext
Human molecular genetics, 2010-01, Vol.19 (1), p.1-15
2010
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