Search Results - "Kurtz, Francois"

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients by Maimoun, Laurent, Philibert, Pascal, Cammas, Benoit, Audran, Françoise, Bouchard, Philippe, Fenichel, Patrick, Cartigny, Maryse, Pienkowski, Catherine, Polak, Michel, Skordis, Nicos, Mazen, Inas, Ocal, Gonul, Berberoglu, Merih, Reynaud, Rachel, Baumann, Clarisse, Cabrol, Sylvie, Simon, Dominique, Kayemba-Kay's, Kabangu, De Kerdanet, Marc, Kurtz, François, Leheup, Bruno, Heinrichs, Claudine, Tenoutasse, Sylvie, Van Vliet, Guy, Grüters, Annette, Eunice, Marumudi, Ammini, Ariachery C, Hafez, Mona, Hochberg, Ze'ev, Einaudi, Sylvia, Al Mawlawi, Horia, del Valle Nuñez, Cristóbal J, Servant, Nadège, Lumbroso, Serge, Paris, Françoise, Sultan, Charles

“…In this cohort of 55 patients with 5α-reductase deficiency, we demonstrate a wide spectrum of phenotypes and biological profiles, whatever their geographical…”
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The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients by 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

“…Context: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital…”
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Is there an optimal strategy for real‐time continuous glucose monitoring in pediatrics? A 12‐month French multi‐center, prospective, controlled randomized trial (Start‐In!) by Guilmin‐Crépon, Sophie, Carel, Jean‐Claude, Schroedt, Julien, Sulmont, Véronique, Salmon, Anne‐Sophie, Le Tallec, Claire, Coutant, Régis, Dalla‐Vale, Fabienne, Stuckens, Chantal, Bony‐Trifunovic, Hélène, Crosnier, Hélène, Kurtz, François, Kaguelidou, Florentia, Le Jeannic, Anaïs, Durand‐Zaleski, Isabelle, Couque, Nathalie, Alberti, Corinne, Tubiana‐Rufi, Nadia

“…Aim To compare the efficacy of three strategies for real‐time continuous glucose monitoring (RT‐CGM) over 12 months in children and adolescents with type 1…”
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Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling by Köhler, Birgit, Lumbroso, Serge, Leger, Juliane, Audran, Francoise, Grau, Enric Sarret, Kurtz, Francois, Pinto, Graziella, Salerno, Mariacarolina, Semitcheva, Tatiana, Czernichow, Paul, Sultan, Charles

“…Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with…”
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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness by Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege

“…Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major…”
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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 by 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, Olivier, Frédérique, Gueorguieva, Iva, Monier, Arnaud, Radet, Catherine, 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

“…The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet…”
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Androgen insensitivity syndrome: Somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling by KÖHLER, Birgit, LUMBROSO, Serge, SULTAN, Charles, LEGER, Juliane, AUDRAN, Francoise, GRAU, Enric Sarret, KURTZ, Francois, PINTO, Graziella, SALERNO, Mariacarolina, SEMITCHEVA, Tatiana, CZERNICHOW, Paul

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