Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies von Ashton, E, Legrand, A, Benoit, V, Roncelin, I, Venisse, A, Zennaro, MC, Jeunemaitre, X, Iancu, D, van't Hoff, W, Walsh, SB, Godefroid, N, Rotthier, A, Del Favero, J, Devuyst, O, Schaefer, F, Jenkins, L, Kleta, R, Dahan, K, Vargas-Poussou, R, Bockenhauer, D

Volltext bestellen

Spectre clinique et génétique du syndrome de Bartter de type 3 von Seys, E., Andrini, O., Mansour-Hendili, L., Roncelin, I., Simian, C., Jeunemaitre, X., Teulon, J., Blanchard, A., Vargas-Poussou, R.

Volltext

Mise en place du diagnostic moléculaire de tubulopathies rénales héréditaires par un panel NGS von Vargas-Poussou, R., Lepottier, N., Roncelin, I., Simian, C., Venisse, A., Boccio, V., Legrand, A., Garcia-Castaño, A., Zennaro, M.-C., Jeunemaitre, X.

Volltext

Assessing complement blockade in patients with paroxysmal nocturnal hemoglobinuria receiving eculizumab von Peffault de Latour, Régis, Fremeaux-Bacchi, Véronique, Porcher, Raphaël, Xhaard, Aliénor, Rosain, Jérémie, Castaneda, Diana Cadena, Vieira-Martins, Paula, Roncelin, Stéphane, Rodriguez-Otero, Paula, Plessier, Aurélie, Sicre de Fontbrune, Flore, Abbes, Sarah, Robin, Marie, Socié, Gérard

Volltext

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome von 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

Volltext

Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria von Prata, Pedro Henrique, Galimard, Jacques-Emmanuel, Sicre de Fontbrune, Flore, Duval, Anna, Vieira Martins, Paula, Roncelin, Stephane, Debureaux, Pierre-Édouard, Lepretre, Anne-Claire, Larcher, Lise, Birsen, Rudy, Benhamou, Ygal, Soulier, Jean, Socié, Gérard, Fremeaux-Bacchi, Véronique, Peffault de Latour, Régis

Volltext

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1 von 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, 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

Volltext

To set up ISO 15189 accreditation: A challenge for a reference laboratory for complement exploration? von Dragon-Durey, Marie-Agnes, Senant, Marie, Bellery, Fabienne, Poulain, Nelly, Garay, Lydie, Roncelin, Stephane, Bordereau, Pauline, Sissy, Carine El, Fremeaux-Bacchi, Veronique

Volltext

Complement deficiencies and human diseases von Rosain, Jérémie, Ngo, Stéphanie, Bordereau, Pauline, Poulain, Nelly, Roncelin, Stéphane, Vieira Martins, Paula, Dragon-Durey, Marie-Agnès, Frémeaux-Bacchi, Véronique

Volltext

Soluble interleukin-2 receptor and metalloproteinase-9 expression in head and neck cancer: prognostic value and analysis of their relationships von El Houda Agueznay, N, Badoual, C, Hans, S, Gey, A, Vingert, B, Peyrard, S, Quintin-Colonna, F, Ravel, P, Bruneval, P, Roncelin, S, Lelongt, B, Bertoglio, J, Fridman, W.H, Brasnu, D, Tartour, E

Volltext

A Decrease of Regulatory T Cells Correlates With Overall Survival After Stmitinib-based Antiangiogenic Therapy in Metastatic Renal Cancer Patients von Adotevi, O, Pere, H, Ravel, P, Haicheur, N, Badoual, C, Merillon, N, Medioni, J, Peyrard, S, Roncelin, S, Verkarre, V, Mejean, A, Fridman, W H, Oudard, S, Tartour, E

Volltext