SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome
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Published in PLoS genetics (01.08.2012)
Published in PLoS genetics (01.08.2012)
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Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
Busiah, Kanetee, MD, Drunat, Séverine, PharmD, Vaivre-Douret, Laurence, Prof, Bonnefond, Amélie, PhD, Simon, Albane, MD, Flechtner, Isabelle, MD, Gérard, Bénédicte, PharmD, Pouvreau, Nathalie, MSc, Elie, Caroline, MD, Nimri, Revital, MD, Vries, Liat De, MD, Tubiana-Rufi, Nadia, MD, Metz, Chantal, MD, Bertrand, Anne-Marie, MD, Nivot-Adamiak, Sylvie, MD, de Kerdanet, Marc, MD, Stuckens, Chantal, MD, Jennane, Farida, MD, Souchon, Pierre-François, MD, Tallec, Claire Le, MD, Désirée, Christelle, MSc, Pereira, Sabrina, MSc, Dechaume, Aurélie, MSc, Robert, Jean-Jacques, Prof, Phillip, Moshe, Prof, Scharfmann, Raphaël, PhD, Czernichow, Paul, Prof, Froguel, Philippe, Prof, Vaxillaire, Martine, PharmD, Polak, Michel, Prof, Cavé, Hélène, Prof
Published in The lancet. Diabetes & endocrinology (01.11.2013)
Published in The lancet. Diabetes & endocrinology (01.11.2013)
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Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1
HUBERT, Edwige-Ludiwyne, TEISSIER, Raphaël, FERNANDES-ROSA, Fábio L, FAY, Michel, RAFESTIN-OBLIN, Marie-Edith, JEUNEMAITRE, Xavier, METZ, Chantal, ESCOUBET, Brigitte, ZENNARO, Maria-Christina
Published in Journal of the American Society of Nephrology (01.11.2011)
Published in Journal of the American Society of Nephrology (01.11.2011)
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The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
Marcos, Séverine, Sarfati, Julie, Leroy, Chrystel, Fouveaut, Corinne, Parent, Philippe, Metz, Chantal, Wolczynski, Slawomir, Gérard, Marion, Bieth, Eric, Kurtz, François, Verier-Mine, Odile, Perrin, Laurence, Archambeaud, Françoise, Cabrol, Sylvie, Rodien, Patrice, Hove, Hanne, Prescott, Trine, Lacombe, Didier, Christin-Maitre, Sophie, Touraine, Philippe, Hieronimus, Sylvie, Dewailly, Didier, Young, Jacques, Pugeat, Michel, Hardelin, Jean-Pierre, Dodé, Catherine
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Subtle Health Impairment and Socioeducational Attainment in Young Adult Patients with Congenital Hypothyroidism Diagnosed by Neonatal Screening: A Longitudinal Population-Based Cohort Study
Léger, Juliane, Ecosse, Emmanuel, Roussey, Michel, Lanoë, Jean Louis, Larroque, Béatrice, the French Congenital Hypothyroidism Study Group
Published in The journal of clinical endocrinology and metabolism (01.06.2011)
Published in The journal of clinical endocrinology and metabolism (01.06.2011)
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A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis
Abasq-Thomas, Claire, Schmitt, Sébastien, Brenaut, Emilie, Metz, Chantal, Chiesa, Jean, Misery, Laurent
Published in Acta dermato-venereologica (23.08.2016)
Published in Acta dermato-venereologica (23.08.2016)
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Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study
Balazard, F, Le Fur, S, Valtat, S, Valleron, A J, Bougnères, P, Thevenieau, Dominique, Chatel, Corinne Fourmy, Desailloud, Rachel, Bony-Trifunovic, Hélène, Ducluzeau, Pierre-Henri, Coutant, Régis, Caudrelier, Sophie, Pambou, Armelle, Dubosclard, Emmanuelle, Joubert, Florence, Jan, Philippe, Marcoux, Estelle, Bertrand, Anne-Marie, Mignot, Brigitte, Penformis, Alfred, Stuckens, Chantal, Piquemal, Régis, Barat, Pascal, Rigalleau, Vincent, Stheneur, Chantal, Fournier, Sylviane, Kerlan, Véronique, Metz, Chantal, Fargeot-Espaliat, Anne, Reznic, Yves, Gueorguieva, Iva, Monier, Arnaud, Gajdos, Vincent, Terral, Daniel, Vervel, Christine, Bendifallah, Djamel, Signor, Candace Ben, Dervaux, Daniel, Benmahammed, Abdelkader, Loeuille, Guy-André, Popelard, Françoise, Guillou, Agnès, Benhamou, Pierre-Yves, Khoury, Jamil, Brossier, Jean-Pierre, Bassil, Joachim, Clavel, Sylvaine, Le Luyer, Bernard, Bougnères, Pierre, Labay, Françoise, Guemas, Isabelle, Weill, Jacques, Cappoen, Jean-Pierre, Nadalon, Sylvie, Lienhardt-Roussie, Anne, Paoli, Anne, Kerouedan, Claudie, Yollin, Edwige, Nicolino, Marc, Simonin, Gilbert, Cohen, Jacques, Atlan, Catherine, Tamboura, Agnès, Dubourg, Hervé, Pignol, Marie-Laure, Talon, Philippe, Jellimann, Stéphanie, Chaillous, Lucy, Baron, Sabine, Bortoluzzi, Marie-Noëlle, Baechler, Elisabeth, Salet, Randa, Zelinsky-Gurung, Ariane, Dallavale, Fabienne, Larger, Etienne, Laloi-Michelin, Marie, Gautier, Jean-François, Guérin, Bénédicte, Oilleau, Laure, Pantalone, Laetitia, Lukas, Céline, Guilhem, Isabelle, De Kerdanet, Marc, Wielickzo, Marie-Claire, Priou-Guesdon, Mélanie, Richard, Odile, Kurtz, François, Laisney, Norbert, Ancelle, Déborah, Parlier, Guilhem, Boniface, Catherine, Bockel, Dominique Paris, Dufillot, Denis, Razafimahefa, Berthe, Gourdy, Pierre, Lecomte, Pierre, Pepin-Donat, Myriam, Combes-Moukhovsky, Marie-Emmanuelle, Zymmermann, Brigitte, Dumont, Anne Gourdin Et Catherine
Published in BMC public health (29.09.2016)
Published in BMC public health (29.09.2016)
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Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Dumeige, Laurence, Chatelais, Livie, Bouvattier, Claire, De Kerdanet, Marc, Hyon, Capucine, Esteva, Blandine, Samara-Boustani, Dinane, Zenaty, Delphine, Nicolino, Marc, Baron, Sabine, Metz-Blond, Chantal, Naud-Saudreau, Catherine, Dupuis, Clémentine, Léger, Juliane, Siffroi, Jean-Pierre, Donadille, Bruno, Christin-Maitre, Sophie, Carel, Jean-Claude, Coutant, Regis, Martinerie, Laetitia
Published in European journal of endocrinology (01.09.2018)
Published in European journal of endocrinology (01.09.2018)
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