Bilaketaren emaitzak - François Nobili

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  1. 1
    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes

    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes nork Haifa Hichri, John Rendu, Nicole Monnier, Charles Coutton, Olivier Dorseuil, Rosa Vargas Poussou, Geneviève Baujat, Anne Blanchard, François Nobili, Bruno Ranchin, Michel Remesy, Rémi Salomon, Véronique Satre, Joël Lunardi

    Argitaratua 2010
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  2. 2
    C5 nephritic factors drive the biological phenotype of C3 glomerulopathies

    C5 nephritic factors drive the biological phenotype of C3 glomerulopathies nork Maria-Chiara Marinozzi, Sophie Chauvet, Moglie Le Quintrec, Morgane Mignotet, Florent Petitprez, Christophe Legendre, Mathilde Cailliez, Georges Deschênes, Michel Fischbach, Alexandre Karras, François Nobili, Christine Piétrement, Marie‐Agnès Dragon‐Durey, Fádi Fakhouri, Lubka T. Roumenina, Véronique Frémeaux‐Bacchi

    Argitaratua 2017
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  3. 3
    Complement Gene Variants and Shiga Toxin–Producing Escherichia coli–Associated Hemolytic Uremic Syndrome

    Complement Gene Variants and Shiga Toxin–Producing Escherichia coli–Associated Hemolytic Uremic Syndrome nork Véronique Frémeaux‐Bacchi, Anne‐Laure Sellier‐Leclerc, Paula Vieira‐Martins, Sophie Limou, Thérèsa Kwon, Annie Lahoche, Robert Novo, Brigitte Llanas, François Nobili, G. Roussey, Mathilde Cailliez, Tim Ulinski, Georges Deschênes, Corinne Alberti, François‐Xavier Weill, Patricia Mariani, Chantal Loirat

    Argitaratua 2019
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  4. 4
    Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

    Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome nork Anne Debost‐Legrand, Cyrielle Tréard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet‐Thomas, Françoise Broux, Bruno Daniele, Stéphane Decramer, Georges Deschênes, D. Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, G Morin, François Nobili, Christine Piétrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard, Rosa Vargas‐Poussou

    Argitaratua 2017
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  5. 5
    Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

    Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study nork Anne‐Sylvia Sacri, T. Chambaraud, Bruno Ranchin, Benoît Florkin, H. See, Stéphane Decramer, Hugues Flodrops, Tim Ulinski, Emma Allain‐Launay, Olivia Boyer, Olivier Dunand, Michel Fischbach, É. Hachulla, Christine Piétrement, P. Le Pogamp, JL Stéphan, Alexandre Bélot, Hubert Nivet, François Nobili, Loı̈c Guillevin, Pierre Quartier, Georges Deschênes, Rémi Salomon, Marie Essig, J. Harambat

    Argitaratua 2015
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  6. 6
    Observations of a large Dent disease cohort

    Observations of a large Dent disease cohort nork Anne Blanchard, Emmanuel Curis, Tiphaine Guyon-Roger, Diana Kahila, Cyrielle Tréard, Véronique Baudouin, E. Bérard, Gérard Champion, Pierre Cochat, Julie Dubourg, Renaud de la Faille, Olivier Devuyst, Georges Deschênes, Michel Fischbach, Jérôme Harambat, Pascal Houillier, Alexandre Karras, Bertrand Knebelmann, Marie‐Pierre Lavocat, Chantal Loirat, Élodie Merieau, Patrick Niaudet, François Nobili, Robert Novo, Rémi Salomon, Tim Ulinski, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou

    Argitaratua 2016
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  7. 7
    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome nork Mathieu Lemaire, Véronique Frémeaux‐Bacchi, Franz Schaefer, Murim Choi, Wai Ho Tang, Moglie Le Quintrec, Fádi Fakhouri, Sophie Taque, François Nobili, Frank Martinez, Weizhen Ji, John D. Overton, Shrikant Mane, Gudrun Nürnberg, Janine Altmüller, Hölger Thiele, Denis Morin, Georges Deschênes, Véronique Baudouin, Brigitte Llanas, Laure Collard, Mohammed Abdul Majid, Eva Šimková, Peter Nürnberg, Nathalie Rioux-Leclerc, Gilbert Moeckel, Marie‐Claire Gubler, John Hwa, Chantal Loirat, Richard P. Lifton

    Argitaratua 2013
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  8. 8
    Clinical and Genetic Spectrum of Bartter Syndrome Type 3

    Clinical and Genetic Spectrum of Bartter Syndrome Type 3 nork Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour‐Hendili, Pierre‐Yves Courand, Christophe Simian, Georges Deschênes, Thérèsa Kwon, Aurélia Bertholet‐Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, P Cozette, Jean‐Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde‐Chiche, Bertrand Knebelmann, Marie‐Pierre Lavocat, Sandrine Lemoine, D. Djeddi, Brigitte Llanas, Férielle Louillet, Élodie Merieau, Maria Mileva, Luísa Mota‐Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwénaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B. Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas‐Poussou

    Argitaratua 2017
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  9. 9
    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1

    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1 nork Lamisse Mansour‐Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Tréard, Wendy González, Ariela Vergara‐Jaque, Gilles Morin, Estelle Colin, Muriel Holder‐Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane L. Benoit, E. Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, C. Cartery, Gérard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud de la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschênes, Éstelle Desport, Olivier Devuyst, Stella M. Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Arnaud François, Brigitte Gilbert‐Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valériane Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin–Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwénaëlle Roussey-Kesler, Rémi Salomon, Andreas Schleich, A.L. Sellier-Leclerc, Kenza Soulami, A. Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou

    Argitaratua 2015
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