Skeletal implications and management of cystinosis: three case reports and literature review

Por Bacchetta, Justine, Greco, Marcella, Bertholet-Thomas, Aurélia, Nobili, François, Zustin, Jozef, Cochat, Pierre, Emma, Francesco, Boivin, Georges
Publicado no Bonekey Rep (2016)

Early-onset hypoparathyroidism and chronic keratitis revealing APECED

Por Mezgueldi, Ellia, Bertholet-Thomas, Aurélia, Milazzo, Solange, Morris, Michael, Bacchetta, Justine, Fabien, Nicole, Cochat, Pierre, Weetman, Anthony P, Kemp, Elizabeth Helen, Belot, Alexandre
Publicado no Clin Case Rep (2015)

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

Por Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya
Publicado no Mol Genet Genomic Med (2017)

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Por Bertholet-Thomas, Aurélia, Berthiller, Julien, Tasic, Velibor, Kassai, Behrouz, Otukesh, Hasan, Greco, Marcella, Ehrich, Jochen, de Paula Bernardes, Rejane, Deschênes, Georges, Hulton, Sally-Ann, Fischbach, Michel, Soulami, Kenza, Saeed, Bassam, Valavi, Ehsan, Cobenas, Carlos Jose, Hacihamdioglu, Bülent, Weiler, Gabrielle, Cochat, Pierre, Bacchetta, Justine
Publicado no BMC Nephrol (2017)

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

Por Legrand, Anne, Treard, Cyrielle, Roncelin, Isabelle, Dreux, Sophie, Bertholet-Thomas, Aurélia, Broux, Françoise, Bruno, Daniele, Decramer, Stéphane, Deschenes, Georges, Djeddi, Djamal, Guigonis, Vincent, Jay, Nadine, Khalifeh, Tackwa, Llanas, Brigitte, Morin, Denis, Morin, Gilles, Nobili, François, Pietrement, Christine, Ryckewaert, Amélie, Salomon, Rémi, Vrillon, Isabelle, Blanchard, Anne, Vargas-Poussou, Rosa
Publicado no Clin J Am Soc Nephrol (2018)

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Por Seys, Elsa, Andrini, Olga, Keck, Mathilde, Mansour-Hendili, Lamisse, Courand, Pierre-Yves, Simian, Christophe, Deschenes, Georges, Kwon, Theresa, Bertholet-Thomas, Aurélia, Bobrie, Guillaume, Borde, Jean Sébastien, Bourdat-Michel, Guylhène, Decramer, Stéphane, Cailliez, Mathilde, Krug, Pauline, Cozette, Paul, Delbet, Jean Daniel, Dubourg, Laurence, Chaveau, Dominique, Fila, Marc, Jourde-Chiche, Noémie, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Djeddi, Djamal, Llanas, Brigitte, Louillet, Ferielle, Merieau, Elodie, Mileva, Maria, Mota-Vieira, Luisa, Mousson, Christiane, Nobili, François, Novo, Robert, Roussey-Kesler, Gwenaëlle, Vrillon, Isabelle, Walsh, Stephen B., Teulon, Jacques, Blanchard, Anne, Vargas-Poussou, Rosa
Publicado no J Am Soc Nephrol (2017)