Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
Daruich, Alejandra, Duncan, Melinda, Robert, Matthieu P., Lagali, Neil, Semina, Elena V., Aberdam, Daniel, Ferrari, Stefano, Romano, Vito, Burin des Roziers, Cyril, Benkortebi, Rabia, De Vergnes, Nathalie, Polak, Michel, Chiambaretta, Frederic, Nischal, Ken K., Behar-Cohen, Francine, Valleix, Sophie, Bremond-Gignac, Dominique
Published in Progress in retinal and eye research (01.07.2023)
Published in Progress in retinal and eye research (01.07.2023)
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Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease
Magnani, Alessandra, MD, PhD, Brosselin, Pauline, MD, MPH, Beauté, Julien, MD, MSc, MPH, de Vergnes, Nathalie, BS, Mouy, Richard, MD, Debré, Marianne, MD, Suarez, Felipe, MD, PhD, Hermine, Olivier, MD, PhD, Lortholary, Olivier, MD, PhD, Blanche, Stéphane, MD, Fischer, Alain, MD, PhD, Mahlaoui, Nizar, MD, MSc, MPH
Published in Journal of allergy and clinical immunology (01.09.2014)
Published in Journal of allergy and clinical immunology (01.09.2014)
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Early-onset hypogammaglobulinemia: A survey of 44 patients
Brignier, Anne C., MD, Mahlaoui, Nizar, MD, Reimann, Christian, MD, PhD, Picard, Capucine, MD, PhD, Kracker, Sven, PhD, de Vergnes, Nathalie, BS, Rieux-Laucat, Frederic, MD, PhD, Frange, Pierre, MD, PhD, Suarez, Felipe, MD, PhD, Neven, Bénédicte, MD, PhD, Masseau, Agathe, MD, Aladjidi, Nathalie, MD, Donadieu, Jean, MD, PhD, Corby, Anne, MD, Bienvenu, Boris, MD, PhD, Cony-Makhoul, Pascale, MD, Fischer, Alain, MD, PhD, Cavazzana, Marina, MD, PhD, Durandy, Anne, MD, PhD
Published in Journal of allergy and clinical immunology (01.10.2015)
Published in Journal of allergy and clinical immunology (01.10.2015)
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Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
DARUICH, ALEJANDRA, ROBERT, MATTHIEU P., LEROY, CAMILLE, DE VERGNES, NATHALIE, BEUGNET, CAROLINE, MALAN, VALERIE, VALLEIX, SOPHIE, BREMOND-GIGNAC, DOMINIQUE
Published in American journal of ophthalmology (01.05.2022)
Published in American journal of ophthalmology (01.05.2022)
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Prevalence of primary immunodeficiencies in France is underestimated
Mahlaoui, Nizar, Jais, Jean-Philippe, Brosselin, Pauline, Mignot, Cecile, Beaurain, Beatrice, Brito, Carolina, Costes, Laurence, Courteille, Virginie, De Vergnes, Nathalie, Alcaïs, Alexandre, Fischer, Alain
Published in Journal of allergy and clinical immunology (01.12.2017)
Published in Journal of allergy and clinical immunology (01.12.2017)
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Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant
Bremond-Gignac, D., Robert, M., Daruich, A., Borderie, V., Chiambaretta, F., Valleix, S., Bremond-Gignac, Dominique, Borderie, Vincent, Bourges, Jean-Louis, Calvas, Patrick, Chiambaretta, Frédéric, Copin, Henri, Daien, Vincent, Labbé, Antoine, Le Bail, Béatrice, Mortemousque, Bruno, Robert, Matthieu, Rozet, Jean-Michel, Sauer, Arnaud, Valleix, Sophie, Aberdam, Daniel, Abitbol, Marc, Aidan, Nathalie, Audo, Isabelle, Bahi-Buisson, Nadia, Barbieri, Emmanuelle, Basille, Fernand, Bouet, Aurélie, Bruere, Lénaïc, Bursztyn, Joseph, Cochener-Lamard, Béatrice, Daruich-Matet, Alejandra, Denis, Danièle, Denis, Philippe, De Vergnes, Nathalie, El Maftouhi, Adil, Forbeaux Glize, Audrey, Gabison, Eric, Grundeler, Jean Philippe, Hoffart, Louis, Igla, Sophie, Jouanjan, Gaëlle, Laumonier Demory, Elsa, Leroy, Camille, Le Meur, Guylène, Mincheva, Zoia, Plat, Elisabeth, Rigal-Sastourne, Charlotte, Romana, Serge, Rousseau, Antoine, Salomon, Rémi, Steffann, Julie, Touitou, Valérie, Verloes, Alain
Published in Journal français d'ophtalmologie (01.06.2022)
Published in Journal français d'ophtalmologie (01.06.2022)
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Prevalence of Diagnosed Primary Immunodeficiencies Diseases in France: Results From the French National Registry and the CEREDIH Network
Mahlaoui, Nizar, Beauté, Julien, Dudoit, Yasmine, Hilpert, Sophie, de Vergnes, Nathalie, Obenga, Gaelle, Mignot, Loic Le, Micol, Romain, Landais, Paul, Picard, Capucine, Suarez, Felipe, Hermine, Olivier, Lecuit, Marc, Lortholary, Olivier, Donadieu, Jean, Oksenhendler, Eric, Fischer, Alain
Published in Blood (20.11.2009)
Published in Blood (20.11.2009)
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