42 results on '"Jouret, Béatrice"'
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2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
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Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
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- 2023
- Full Text
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3. Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
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Delagrange, Marine, Rousseau, Vanessa, Cessans, Catie, Pienkowski, Catherine, Oliver, Isabelle, Jouret, Béatrice, Cartault, Audrey, Diene, Gwenaelle, Tauber, Maithé, Salles, Jean-Pierre, Yart, Armelle, and Edouard, Thomas
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- 2021
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4. Collaborateurs
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Abderrhamani, Amar, primary, Achamrah, Najate, additional, Allès, Benjamin, additional, Alligier, Maud, additional, Amouyal, Chloé, additional, André, Sébastien, additional, Andreelli, Fabrizio, additional, Antuna-Puente, Barbara, additional, Apfeldorfer, Gérard, additional, Arienzo, Roberto, additional, Arnulf, Isabelle, additional, Aron-Wisnewski, Judith, additional, Aubry, Estelle, additional, Avignon, Antoine, additional, Bachelot, Anne, additional, Barat, Pascal, additional, Barouki, Robert, additional, Bastard, Jean-Philippe, additional, Bastin, Marie, additional, Batisse, Thibaut, additional, Bauduceau, Bernard, additional, Bauters, Catherine, additional, Lassen, Pierre Bel, additional, Bellicha, Alice, additional, Bergouignan, Audrey, additional, Bienvenot, Rebecca, additional, Böhme, Philip, additional, Bonnefond, Amélie, additional, Bordier, Lyse, additional, Boirie, Yves, additional, Borel, Anne-Laure, additional, Bouchard, Philippe, additional, Bouillot, Jean-Luc, additional, Boutron-Ruault, Marie-Christine, additional, Brot-Laroche, Édith, additional, Caiazzo, Robert, additional, Carette, Claire, additional, Carriere, Caroline, additional, Carriere-Pazat, Audrey, additional, Casteilla, Louis, additional, Cassuto, Dominique-Adèle, additional, Charles, Marie-Aline, additional, Chapelot, Didier, additional, Charreire, Hélène, additional, Chevalier, Nicolas, additional, Chevallier, Jean-Marc, additional, Ciangura, Cécile, additional, Clément, Karine, additional, Coëffier, Moïse, additional, Cornet, Philippe, additional, Cortet, Christine, additional, Coupaye, Muriel, additional, Czernichow, Sébastien, additional, Dargent, Jérôme, additional, Delzenne, Nathalie, additional, Deruelle, Philippe, additional, Desport, Jean-Claude, additional, Desseigne, Magalie, additional, Detournay, Bruno, additional, Dharancy, Sébastien, additional, Disse, Emmanuel, additional, Donadille, Bruno, additional, Douillard, Claire, additional, Dubern, Béatrice, additional, Dubreuil, Sophie, additional, Duclos, Martine, additional, Duez, Hélène, additional, Dunoyer, Sophie, additional, Dupont, Charlotte, additional, Durlach, Vincent, additional, Durrer-Schutz, Dominique, additional, Duverne, Sophie, additional, Eburdery, Harold, additional, Espiard, Stéphanie, additional, Esser, Nathalie, additional, Everard, Amandine, additional, Faucher, Pauline, additional, Fayemendy, Philippe, additional, Fellahi, Soraya, additional, Fève, Bruno, additional, Fillon, Alicia, additional, Folope, Vanessa, additional, Fontanille, Isabelle, additional, Frelut, Marie-Laure, additional, Froguel, Philippe, additional, Gaborit, Bénédicte, additional, Gatta-Cherifi, Blandine, additional, Guillet, Christelle, additional, Grange, Laurent, additional, Grangeard, Catherine, additional, Gueorguieva, Iva, additional, Halimi, Serge, additional, Hanaire, Hélène, additional, Heide, Solveig, additional, Heude, Barbara, additional, Iceta, Sylvain, additional, Janmaat, Sonja, additional, Jéru, Isabelle, additional, Jésus, Pierre, additional, Joly, Anne-Sophie, additional, Jouret, Béatrice, additional, Julia, Chantal, additional, Julien-Sweerts, Sabrina, additional, Kim, Min Ji, additional, Ladsous, Miriam, additional, Lalau, Jean-Daniel, additional, Langin, Dominique, additional, Lascols, Olivier, additional, Lassailly, Guillaume, additional, de La Serre, Claire, additional, Laville, Martine, additional, Laye, Sophie, additional, Lecerf, Jean-Michel, additional, Leturque, Armelle, additional, Lévy, Rachel, additional, Lienard, Yasmine, additional, Losserand, Guillaume, additional, Maghroudi, Aïcha, additional, Magnan, Christophe, additional, Marcelin, Geneviève, additional, Marciniak, Camille, additional, Marre, Philippe, additional, Marty, Lucile, additional, Mathurin, Philippe, additional, Matta, Joane, additional, Mencia-Huerta, Matthieu, additional, Michaud, Andréanne, additional, Miramont, Vincent, additional, Mocquot, Caroline, additional, Monnery-Patris, Sandrine, additional, Montastier, Émilie, additional, Morigny, Pauline, additional, Mosbah, Héléna, additional, Negro, Nathalie, additional, Neyrinck, Audrey, additional, Oppert, Jean-Michel, additional, Daoud, Naïma Oukhouya, additional, Pacini, Filippo, additional, Paccou, Julien, additional, Paquot, Nicolas, additional, Pattou, François, additional, Péron-Le Lay, Soazig, additional, Peuteuil, Pierre, additional, Poghosyan, Tigran, additional, Poitou, Christine, additional, Poulain, Jean-Pierre, additional, Pourcher, Guillaume, additional, Quilliot, Didier, additional, Raison, Jocelyne, additional, Raucoules-Aimé, Marc, additional, Ribes, Gérard, additional, Rigal, Nathalie, additional, Ritz, Patrick, additional, Rives-Lange, Claire, additional, Riviere, Pauline, additional, Robert, Maud, additional, Rodriguez, Julie, additional, Romon, Monique, additional, Rose, Cindy, additional, Rozier, Romain, additional, de Saint Pol, Thibault, additional, Sanguignol, Frédéric, additional, Scheen, André, additional, Schlienger, Jean-Louis, additional, Sermondade, Nathalie, additional, Sebti, Yasmine, additional, Simon, Chantal, additional, Tappy, Luc, additional, Tauber, Maïté, additional, Thibault, Hélène, additional, Thivel, David, additional, Valet, Philippe, additional, Vantyghem, Marie-Christine, additional, Vatier, Camille, additional, Verges, Bruno, additional, Verkindt, Hélène, additional, Vialettes, Bernard, additional, Vigouroux, Corinne, additional, Walrand, Stéphane, additional, Waysfeld, Bernard, additional, Zammouri, Jamila, additional, Zermati, Jean-Philippe, additional, Ziegler, Olivier, additional, and Zucker, Jean-Daniel, additional
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- 2021
- Full Text
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5. Weight changes in overweight children enrolled in a therapeutic education program
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Chollet, Christine, primary, Gauvin, Julie, additional, Rubio, Didier, additional, Fleury, Corinne, additional, Fatras, Jean-Yves, additional, Tauber, Maïthé, additional, and Jouret, Béatrice, additional
- Published
- 2023
- Full Text
- View/download PDF
6. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
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Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
- Abstract
Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
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- 2023
7. Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults
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Nannette, Gaëlle, primary, Bar, Céline, additional, Diene, Gwenaëlle, additional, Pienkowski, Catherine, additional, Oliver-Petit, Isabelle, additional, Jouret, Béatrice, additional, Cartault, Audrey, additional, Porquet-Bordes, Valérie, additional, Salles, Jean-Pierre, additional, Grunenwald, Solange, additional, Edouard, Thomas, additional, Molinas, Catherine, additional, and Tauber, Maithé, additional
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- 2022
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8. Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.
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Nannette, Gaëlle, Bar, Céline, Diene, Gwenaëlle, Pienkowski, Catherine, Oliver-Petit, Isabelle, Jouret, Béatrice, Cartault, Audrey, Porquet-Bordes, Valérie, Salles, Jean-Pierre, Grunenwald, Solange, Edouard, Thomas, Molinas, Catherine, and Tauber, Maithé
- Subjects
OBESITY ,YOUNG adults ,PHENOTYPES - Abstract
Context: Pituitary stalk interruption syndrome (PSIS) is rare in the pediatric population. It combines ectopic posterior pituitary stalk interruption and anterior pituitary hypoplasia with hormonal deficiencies. The phenotype is highly heterogeneous and obesity/overweight seems to be underreported in the literature. Objective: To identify patients with PSIS and obesity or overweight, describe their phenotype, and compare them with patients with PSIS without overweight/obesity. Methods: Sixty-nine children and young adults with PSIS in a Toulouse cohort from 1984 to 2019 were studied. We identified 25 obese or overweight patients (OB-OW group), and 44 were nonobese/overweight (NO group). Then the groups were compared. Results: All cases were sporadic. The sex ratio was 1.6. The main reason for consultation in both groups was growth retardation (61% in OB-OW group, 77% in NO group). History of neonatal hypoglycemia was more common in the OB-OW than in the NO group (57% vs 14%, P=.0008), along with extrapituitary malformations (64% vs 20%, P<0001). The incidence of caesarean section was higher in the OB-OW group (52%) than in the NO group (23%), although not significant (P= .07). Conclusion: Patients with PSIS who are obese/overweight display interesting phenotypic differences that suggest hypothalamic defects. Studies are needed that include additional information on hormonal levels, particularly regarding oxytocin and ghrelin. [ABSTRACT FROM AUTHOR]
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- 2023
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9. Sedentary Lifestyle
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Raupp, Augustin, primary, Jouret, Béatrice, additional, and Tauber, Maïthé, additional
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- 2015
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10. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
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Vuillaume, Marie-Laure, Naudion, Sophie, Banneau, Guillaume, Diene, Gwenaelle, Cartault, Audrey, Cailley, Dorothée, Bouron, Julie, Toutain, Jérôme, Bourrouillou, Georges, Vigouroux, Adeline, Bouneau, Laurence, Nacka, Fabienne, Kieffer, Isabelle, Arveiler, Benoit, Knoll-Gellida, Anja, Babin, Patrick J., Bieth, Eric, Jouret, Béatrice, Julia, Sophie, Sarda, Pierre, Geneviève, David, Faivre, Laurence, Lacombe, Didier, Barat, Pascal, Tauber, Maithé, Delrue, Marie-Ange, and Rooryck, Caroline
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- 2014
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11. Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees
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Stutzmann, Fanny, Tan, Karen, Vatin, Vincent, Dina, Christian, Jouret, Béatrice, Tichet, Jean, Balkau, Beverley, Potoczna, Natascha, Horber, Fritz, OʼRahilly, Stephen, Farooqi, I. Sadaf, Froguel, Philippe, and Meyre, David
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- 2008
12. Family Dietary Coaching to Improve Nutritional Intakes and Body Weight Control: A Randomized Controlled Trial
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Paineau, Damien L., Beaufils, François, Boulier, Alain, Cassuto, Dominique-Adèle, Chwalow, Judith, Combris, Pierre, Couet, Charles, Jouret, Béatrice, Lafay, Lionel, Laville, Martine, Mahe, Sylvain, Ricour, Claude, Romon, Monique, Simon, Chantal, Tauber, Maïté, Valensi, Paul, Chapalain, Véronique, Zourabichvili, Othar, and Bornet, Francis
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- 2008
13. Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene
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Stutzmann, Fanny, Vatin, Vincent, Cauchi, Stéphane, Morandi, Anita, Jouret, Béatrice, Landt, Olfert, Tounian, Patrick, Levy-Marchal, Claire, Buzzetti, Raffaella, Pinelli, Leonardo, Balkau, Beverley, Horber, Fritz, Bougnères, Pierre, Froguel, Philippe, and Meyre, David
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- 2007
14. Factors associated with overweight in preschool-age children in southwestern France1–3
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Jouret, Béatrice, Ahluwalia, Namanjeet, Cristini, Christelle, Dupuy, Marie, Nègre-Pages, Laurence, Grandjean, Hélène, and Tauber, Maithé
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- 2007
15. Bardet-Biedl Syndrome Gene Variants Are Associated With Both Childhood and Adult Common Obesity in French Caucasians
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Benzinou, Michael, Walley, Andrew, Lobbens, Stephan, Charles, Marie-Aline, Jouret, Béatrice, Fumeron, Frédéric, Balkau, Beverley, Meyre, David, and Froguel, Philippe
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- 2006
16. Insulin resistance and the metabolic syndrome in obese French children
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Druet, Céline, Dabbas, Myriam, Baltakse, Véronique, Payen, Catherine, Jouret, Béatrice, Baud, Christine, Chevenne, Didier, Ricour, Claude, Tauber, Maïthé, Polak, Michel, Alberti, Corinne, and Levy-Marchal, Claire
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- 2006
17. ACDC/Adiponectin Polymorphisms Are Associated With Severe Childhood and Adult Obesity
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Bouatia-Naji, Nabila, Meyre, David, Lobbens, Stéphane, Séron, Karin, Fumeron, Frédéric, Balkau, Beverley, Heude, Barbara, Jouret, Béatrice, Scherer, Philipp E., Dina, Christian, Weill, Jacques, and Froguel, Philippe
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- 2006
18. Association of Melanin-Concentrating Hormone Receptor 1 5′ Polymorphism With Early-Onset Extreme Obesity
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Bell, Christopher G., Meyre, David, Samson, Chantal, Boyle, Cliona, Lecoeur, Cécile, Tauber, Maïte, Jouret, Béatrice, Jaquet, Delphine, Levy-Marchal, Claire, Charles, Marie Aline, Weill, Jacques, Gibson, Fernando, Mein, Charles A., Froguel, Philippe, and Walley, Andrew J.
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- 2005
19. Supervised physical training in obese children: immediate and long-term results
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Garrigue, Eric, Pillard, Fabien, Jouret, Béatrice, Tauber, Maïthé, and Rivière, Daniel
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- 2005
20. Is Glutamate Decarboxylase 2 (GAD2) a Genetic Link between Low Birth Weight and Subsequent Development of Obesity in Children?
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Meyre, David, Boutin, Philippe, Tounian, Agnès, Deweirder, Marianne, Aout, Mounir, Jouret, Béatrice, Heude, Barbara, Weill, Jacques, Tauber, Maite, Tounian, Patrick, and Froguel, Philippe
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- 2005
21. Adolescents with Partial Growth Hormone (GH) Deficiency Develop Alterations of Body Composition after GH Discontinuation and Require Follow-Up
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Tauber, Maithé, Jouret, Béatrice, Cartault, Audrey, Lounis, Nadia, Gayrard, Michèle, Marcouyeux, Corinne, Pienkowski, Catherine, Oliver, Isabelle, Moulin, Pierre, Otal, Philippe, Joffre, Francis, Arnaud, Catherine, and Rochiccioli, Pierre
- Published
- 2003
22. Short‐term and long‐term positive outcomes of the multidisciplinary care implemented by the French health networks for the prevention and care of paediatric overweight and obesity
- Author
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Carriere, Caroline, primary, Thibault, Hélène, additional, Barat, Pascal, additional, Guemazi‐Kheffi, Fatiha, additional, Mellouet‐Fort, Blandine, additional, Ancillon, Laurent, additional, Bertrand, Anne‐Marie, additional, Quinart, Sylvain, additional, Guilmin‐Crépon, Sophie, additional, Arsan, Armine, additional, Lestournelle, Anne, additional, Brument, Régine, additional, Saison‐Canaple, Camille, additional, Renel, Lise, additional, Daussac, Adeline, additional, Jouret, Béatrice, additional, Negre, Véronique, additional, and Tauber, Maïthé, additional
- Published
- 2019
- Full Text
- View/download PDF
23. Truncal Distribution of Fat Mass, Metabolic Profile and Hypothalamic-Pituitary Adrenal Axis Activity in Prepubertal Obese Children
- Author
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Barat, Pascal, Gayard-Cros, Michelle, Andrew, Ruth, Corcuff, Jean-Benoît, Jouret, Béatrice, Barthe, Nicole, Perez, Paul, Germain, Christine, Tauber, Maïthé, Walker, Brian R., Mormede, Pierre, and Duclos, Martine
- Published
- 2007
24. Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency
- Author
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Moniez, Sophie, primary, Pienkowski, Catherine, additional, Lepage, Benoit, additional, Hamdi, Safouane, additional, Daudin, Myriam, additional, Oliver, Isabelle, additional, Jouret, Béatrice, additional, Cartault, Audrey, additional, Diene, Gwenaelle, additional, Verloes, Alain, additional, Cavé, Hélène, additional, Salles, Jean-Pierre, additional, Tauber, Maithé, additional, Yart, Armelle, additional, and Edouard, Thomas, additional
- Published
- 2018
- Full Text
- View/download PDF
25. Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity
- Author
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Charpentier Guillaume, Tichet Jean, Jouret Béatrice, Veslot Jacques, Proença Christine, Heude Barbara, Lecoeur Cécile, Vatin Vincent, Bouatia-Naji Nabila, Marre Michel, Balkau Beverley, Froguel Philippe, and Meyre David
- Subjects
Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background 7B2 is a regulator/activator of the prohormone convertase 2 which is involved in the processing of numerous neuropeptides, including insulin, glucagon and pro-opiomelanocortin. We have previously described a suggestive genetic linkage peak with childhood obesity on chr15q12-q14, where the 7B2 encoding gene, SGNE1 is located. The aim of this study is to analyze associations of SGNE1 genetic variation with obesity and metabolism related quantitative traits. Methods We screened SGNE1 for genetic variants in obese children and genotyped 12 frequent single nucleotide polymorphisms (SNPs). Case control analyses were performed in 1,229 obese (534 children and 695 adults), 1,535 individuals with type 2 diabetes and 1,363 controls, all French Caucasians. We also studied 4,922 participants from the D.E.S.I.R prospective population-based cohort. Results We did not find any association between SGNE1 SNPs and childhood or adult obesity. However, the 5' region SNP -1,701A>G associated with higher area under glucose curve after oral glucose tolerance test (p = 0.0005), higher HOMA-IR (p = 0.005) and lower insulinogenic index (p = 0.0003) in obese children. Similar trends were found in obese adults. SNP -1,701A>G did not associate with risk of T2D but tends to associate with incidence of type 2 diabetes (HR = 0.75 95%CI [0.55–1.01]; p = 0.06) in the prospective cohort. Conclusion SGNE1 genetic variation does not contribute to obesity and common forms of T2D but may worsen glucose intolerance and insulin resistance, especially in the background of severe and early onset obesity. Further molecular studies are required to understand the molecular bases involved in this process.
- Published
- 2007
- Full Text
- View/download PDF
26. Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation
- Author
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Bar, Céline, primary, Zadro, Charline, additional, Diene, Gwenaelle, additional, Oliver, Isabelle, additional, Pienkowski, Catherine, additional, Jouret, Béatrice, additional, Cartault, Audrey, additional, Ajaltouni, Zeina, additional, Salles, Jean-Pierre, additional, Sevely, Annick, additional, Tauber, Maithé, additional, and Edouard, Thomas, additional
- Published
- 2015
- Full Text
- View/download PDF
27. Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities
- Author
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Koufaris, Costas, primary, Papagregoriou, Gregoris, additional, Kousoulidou, Ludmila, additional, Moutafi, Maria, additional, Tauber, Maithé, additional, Jouret, Béatrice, additional, Kieffer, Isabelle, additional, Deltas, Constantinos, additional, Tanteles, George A., additional, Anastasiadou, Violetta, additional, Patsalis, Philippos C., additional, and Sismani, Carolina, additional
- Published
- 2015
- Full Text
- View/download PDF
28. Recueil de pratiques visant à harmoniser les évaluations pédagogiques des compétences de soins chez les enfants de 9–11 ans en surpoids ou obèses
- Author
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Videau, Stéphanie, primary, Bertrand, Anne-Marie, additional, Jouret, Béatrice, additional, and Gagnayre, Rémi, additional
- Published
- 2010
- Full Text
- View/download PDF
29. Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity
- Author
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Bouatia-Naji, Nabila, primary, Vatin, Vincent, additional, Lecoeur, Cécile, additional, Heude, Barbara, additional, Proença, Christine, additional, Veslot, Jacques, additional, Jouret, Béatrice, additional, Tichet, Jean, additional, Charpentier, Guillaume, additional, Marre, Michel, additional, Balkau, Beverley, additional, Froguel, Philippe, additional, and Meyre, David, additional
- Published
- 2007
- Full Text
- View/download PDF
30. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes
- Author
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Meyre, David, primary, Bouatia-Naji, Nabila, additional, Tounian, Agnès, additional, Samson, Chantal, additional, Lecoeur, Cécile, additional, Vatin, Vincent, additional, Ghoussaini, Maya, additional, Wachter, Christophe, additional, Hercberg, Serge, additional, Charpentier, Guillaume, additional, Patsch, Wolfgang, additional, Pattou, François, additional, Charles, Marie-Aline, additional, Tounian, Patrick, additional, Clément, Karine, additional, Jouret, Béatrice, additional, Weill, Jacques, additional, Maddux, Betty A, additional, Goldfine, Ira D, additional, Walley, Andrew, additional, Boutin, Philippe, additional, Dina, Christian, additional, and Froguel, Philippe, additional
- Published
- 2005
- Full Text
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31. Long-Term Evolution of Endocrine Disorders and Effect of GH Therapy in 35 Patients with Pituitary Stalk Interruption Syndrome
- Author
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Tauber, Maïthé, primary, Chevrel, Jean, additional, Diene, Gwenaelle, additional, Moulin, Pierre, additional, Jouret, Béatrice, additional, Oliver, Isabelle, additional, Pienkowski, Catherine, additional, and Sevely, Annick, additional
- Published
- 2005
- Full Text
- View/download PDF
32. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
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Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Mau-Them, Frédéric Tran, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B.A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Agathe, Jean-Madeleine de Sainte, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Maystadt, Isabelle, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Lochmüller, Hanns, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Lederer, Damien, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Heron, Delphine, Lacombe, Didier, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Maystadt, Isabelle, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Vitobello, Antonio, Vissers, Lisenka E.L.M., and Faivre, Laurence
- Abstract
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism, and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
- Published
- 2023
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33. Evaluation of Cutaneous Modifications in Seventy-Seven Growth Hormone-Deficient Children
- Author
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Conte, Françoise, primary, Diridollou, Stéphane, additional, Jouret, Béatrice, additional, Turlier, Virginie, additional, Charveron, Marie, additional, Gall, Yvon, additional, Rochiccioli, Pierre, additional, Bieth, Eric, additional, and Tauber, Maïthé, additional
- Published
- 2000
- Full Text
- View/download PDF
34. Growth Hormone (GH) Retesting and Auxological Data in 131 GH-Deficient Patients after Completion of Treatment
- Author
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Tauber, Maïthé, primary, Moulin, Pierre, additional, Pienkowski, Catherine, additional, Jouret, Béatrice, additional, and Rochiccioli, Pierre, additional
- Published
- 1997
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- View/download PDF
35. Stimulating effect of growth hormone on cytokine release in children.
- Author
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Bozzola, Mauro, De Benedetti, Fabrizio, De Amici, Mara, Jouret, Béatrice, Travaglino, Paola, Pagani, Sara, Conte, Françoise, and Tauber, Maïthé
- Published
- 2003
- Full Text
- View/download PDF
36. Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities
- Author
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Koufaris, Costas, Papagregoriou, Gregory N., Kousoulidou, Ludmila, Moutafi, Maria, Tauber, Maïthé Thérèse, Jouret, Béatrice, Kieffer, Isabelle, Constantinou-Deltas, Constantinos D., Tanteles, George A., Anastasiadou, Violetta C., Patsalis, Philippos C., Sismani, Carolina, and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
- Subjects
genetic association ,Craniofacial abnormality ,Sequence Homology ,nerve protein ,Haploinsufficiency ,gene cluster ,sonic hedgehog protein ,Craniofacial ,Alexander disease ,Learning Disorders ,genetics ,membrane protein ,chromosome 9p ,Developmental defect ,gene mutation ,Hypertelorism ,Sequence Deletion ,Genetics ,MiR-876 ,microRNA ,MiR-873 ,Learning Disabilities ,hypertelorism ,chromosome deletion ,General Medicine ,bioinformatics ,cell line ,Hedgehog signaling pathway ,neuroblastoma cell line ,unclassified drug ,priority journal ,LINGO2 protein ,Multigene Family ,sequence alignment ,Mammalia ,medicine.symptom ,signal transduction ,Signal Transduction ,skull ,microRNA 876 ,Molecular Sequence Data ,DNA sequence ,morphogenesis ,comparative genomic hybridization ,Nerve Tissue Proteins ,Biology ,Article ,Cell Line ,learning disorder ,craniofacial malformation ,medicine ,embryology ,Humans ,controlled study ,Hedgehog Proteins ,human ,Hedgehog ,multigene family ,Body Patterning ,growth, development and aging ,MIRN876 microRNA, human ,Base Sequence ,gene deletion ,MIRN873 microRNA, human ,human cell ,Skull ,Macrocephaly ,nucleotide sequence ,Erinaceidae ,sequence homology ,Sequence Analysis, DNA ,medicine.disease ,Megalencephaly ,MicroRNAs ,molecular genetics ,microRNA 873 ,Sequence Alignment ,metabolism - Abstract
MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, MIR873 and MIR876, in a patient with craniofacial abnormalities - in particular macrocephaly and hypertelorism - and learning difficulties. Subsequent analysis revealed that the microRNAs affected by this de novo microdeletion form a mammalian-lineage, neuronal tissue-enriched cluster. In addition, bioinformatic analysis and experimental data indicate that miR-873 is involved in the regulation of the Hedgehog signaling, an essential pathway involved in craniofacial patterning and differentiation. Collectively these observations are consistent with a role of the miR-873/miR-876 microRNA cluster in physiological cranial bone development and indicate that mutations affecting these microRNAs could be a rare cause of developmental defect in humans. © 2015 Elsevier B.V. 561 95 100 Cited By :5
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37. [Childhood obesity].
- Author
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Jouret B and Tauber M
- Subjects
- Child, Humans, Pediatric Obesity
- Abstract
Competing Interests: B. Jouret et M. Tauber déclarent n’avoir aucun lien d’intérêts.
- Published
- 2018
38. [Obesities do not all require the same care].
- Author
-
Jouret B and Tauber M
- Subjects
- Humans, Obesity
- Abstract
Competing Interests: B. Jouret et M. Tauber déclarent n’avoir aucun lien d’intérêts.
- Published
- 2018
39. [PRIMARY CARE INTERVENTIONS FOR PEDIATRIC OVERWEIGHT OR OBESITY].
- Author
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Jouret B and Haupp A
- Subjects
- Adolescent, Body Mass Index, Child, Child, Preschool, Evidence-Based Medicine, Follow-Up Studies, France epidemiology, Humans, Meta-Analysis as Topic, Nutrition Surveys, Overweight therapy, Pediatric Obesity diagnosis, Pediatric Obesity epidemiology, Pediatric Obesity prevention & control, Practice Guidelines as Topic, Randomized Controlled Trials as Topic, Risk Factors, Sedentary Behavior, Surveys and Questionnaires, Parents education, Patient Education as Topic, Pediatric Obesity therapy
- Abstract
Obesity is a slow progressive chronic disease, for the complications as well as efficacy of the care. A long-term success requires a comprehensive educational diagno- sis that explores the various dimensions of the child and his family, thus allowing to define the care project. Both the motivational Interviewing that is based on the technics of therapeutic patient education and the parents' implication are the key factors for the success of the care. They allow, from the assessment of competencies of parents and child to propose, according to child's situation, the best targeted management. The follow up will be step by step, in long-term concerted interdisciplinarity, with in each visit the possibility of choosing a new objective or reinforcing some objectives suitable for the child, in combination with strategies that frequently involve the parents. Negotiation between caregiver(s), the child and his family are suitable. The greatest flexibility on both sides will allow to go forward together to reach the chosen aim.
- Published
- 2015
40. [Obesity in the child].
- Author
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Tauber M and Jouret B
- Subjects
- Child, France, Humans, Physician's Role, Prejudice, Primary Prevention, Research, Obesity prevention & control
- Published
- 2010
41. [Child obesity].
- Author
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Tauber M, Jouret B, and Diene G
- Subjects
- Child, Humans, Life Style, Obesity diagnosis, Obesity etiology, Risk Factors, Obesity therapy
- Published
- 2009
42. [Obesity in children and adults].
- Author
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Jouret B and Tauber M
- Subjects
- Adult, Child, Diagnosis, Differential, Humans, Risk Factors, Obesity diagnosis, Obesity etiology, Obesity therapy
- Published
- 2004
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