Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer by Mégarbané, André, Piquemal, David, Rebillat, Anne-Sophie, Stora, Samantha, Pierrat, Fabien, Bruno, Roman, Noguier, Florian, Mircher, Clotilde, Ravel, Aimé, Vilaire-Meunier, Marie, Durand, Sophie, Lefranc, Gérard

Get full text

Catatonia in Down's syndrome: An under-recognized syndrome during regression by Jakubowicz, Barbara, Baptista, Axel, Ravel, Aimé, Cieuta, Cécile, Mircher, Clotilde, Cohen, David, Consoli, Angèle, Raffin, Marie

Get full text

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome by Kong, Xiao-Fei, Worley, Lisa, Rinchai, Darawan, Bondet, Vincent, Jithesh, Puthen Veettil, Goulet, Marie, Nonnotte, Emilie, Rebillat, Anne Sophie, Conte, Martine, Mircher, Clotilde, Gürtler, Nicolas, Liu, Luyan, Migaud, Mélanie, Elanbari, Mohammed, Habib, Tanwir, Ma, Cindy S., Bustamante, Jacinta, Abel, Laurent, Ravel, Aimé, Lyonnet, Stanislas, Munnich, Arnold, Duffy, Darragh, Chaussabel, Damien, Casanova, Jean-Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Puel, Anne

Get full text

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome by Mégarbané, André, Ravel, Aimé, Mircher, Clotilde, Sturtz, Franck, Grattau, Yann, Rethoré, Marie-Odile, Delabar, Jean-Maurice, Mobley, William C

Get full text

Pulmonary hemosiderosis in children with Down syndrome: a national experience by Alimi, Aurelia, Taytard, Jessica, Abou Taam, Rola, Houdouin, Véronique, Forgeron, Aude, Lubrano Lavadera, Marc, Cros, Pierrick, Gibertini, Isabelle, Derelle, Jocelyne, Deschildre, Antoine, Thumerelle, Caroline, Epaud, Ralph, Reix, Philippe, Fayon, Michael, Roullaud, Sylvie, Troussier, Françoise, Renoux, Marie-Catherine, de Blic, Jacques, Leyronnas, Sophie, Thouvenin, Guillaume, Perisson, Caroline, Ravel, Aimé, Clement, Annick, Corvol, Harriet, Nathan, Nadia

Get full text

Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis by Sacco, Silvia, Bouis, Charles, Gallard, Jennifer, Pichot, Aude, Blondiaux, Elodie, Marey, Isabelle, Dorison, Nathalie, Sturtz, Franck, Cieuta‐Walti, Cecile, Ravel, Aimé, Mircher, Clotilde

Get full text

Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinica... by Cieuta-Walti, Cécile, Cuenca-Royo, Aida, Langohr, Klaus, Rakic, Claire, López-Vílchez, Ma Ángeles, Lirio, Julián, González-Lamuño Leguina, Domingo, González, Teresa Bermejo, García, Jordi García, Roure, Maria Rimblas, Aldea-Perona, Ana, Forcano, Laura, Gomis-Gonzalez, Maria, Cés, Sebastià Videla, Lacaille, Florence, Ravel, Aimé, Mircher, Clotilde, Walti, Hervé, Janel, Nathalie, Dairou, Julien, Lévy, Marilyne, Durand, Sophie, Dierssen, Mara, Sacco, Silvia, Fornell, Rafael de la Torre, Guerrico, Ion Álvarez, Goday, Albert, Llop, Cristina, Mateus, Julián, Matilla, Iris, Esther, Menoyo, Hernández-Ligero, Lorena, Pérez, Marta, Pizarro, Neus, Principe, Alessandro, Cortesi, Anna, Gomez, Alba, Paredes, Noelia, Gomez, Cristina, Graell, Montserrat, López, Pilar, Lozano, Rosario, Medrano, Constancio, Andrade-Navarro, Maria Teresa, Daza, Gema, Garcia, Sandra, Gayán, Ma Luisa, Guerra-Colorado, Cristina, Luna, Beatriz, Maya, Enriqueta, Millan, Delia, Reina, Macarena, Amigo, María Teresa, Fernández, José Luís, García-Martínez, María, Pérez-Poyato, María del Socorro, Pozueta, Ana, Tato, Emma, Viadero, María Teresa, Akkaya, Magnolia, Falquero, Ségolène, Gambarini, Alicia

Get full text

Acute Regression in Young People with Down Syndrome by Mircher, Clotilde, Cieuta-Walti, Cécile, Marey, Isabelle, Rebillat, Anne-Sophie, Cretu, Laura, Milenko, Eliane, Conte, Martine, Sturtz, Franck, Rethore, Marie-Odile, Ravel, Aimé

Get full text

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 by El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée

Get full text

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial by Mircher, Clotilde, Sacco, Silvia, Bouis, Charles, Gallard, Jennifer, Pichot, Aude, Le Galloudec, Eric, Cieuta, Cécile, Marey, Isabelle, Greiner-Mahler, Oliver, Dorison, Nathalie, Gambarini, Alicia, Stora, Samantha, Durand, Sophie, Polak, Michel, Baruchel, André, Schlumberger, Emilie, Dewailly, Jean, Azar-Kolakez, Ahlam, Guéant-Rodriguez, Rosa-Maria, Guéant, Jean-Louis, Borderie, Didier, Bonnefont-Rousselot, Dominique, Blondiaux, Elodie, Ravel, Aimé, Sturtz, Franck G

Get full text

Growth curves for French people with Down syndrome from birth to 20 years of age by Mircher, Clotilde, Briceño, Laura G., Toulas, Jeanne, Conte, Martine, Tanguy, Marie‐Laure, Cieuta‐Walti, Cécile, Rethore, Marie‐Odile, Ravel, Aimé

Get full text

Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status by Blehaut, Henri, Mircher, Clotilde, Ravel, Aimé, Conte, Martine, de Portzamparc, Veronique, Poret, Gwendael, de Kermadec, Françoise Huon, Rethore, Marie-Odile, Sturtz, Franck G

Get full text

Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways by Ripoll, Clémentine, Rivals, Isabelle, Ait Yahya-Graison, Emilie, Dauphinot, Luce, Paly, Evelyne, Mircher, Clothilde, Ravel, Aimé, Grattau, Yann, Bléhaut, Henri, Mégarbane, André, Dembour, Guy, de Fréminville, Bénédicte, Touraine, Renaud, Créau, Nicole, Potier, Marie Claude, Delabar, Jean Maurice

Get full text

Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation by Haertle, Larissa, Müller, Tobias, Lardenoije, Roy, Maierhofer, Anna, Dittrich, Marcus, Riemens, Renzo J M, Stora, Samantha, Roche, Mathilde, Leber, Markus, Riedel-Heller, Steffi, Wagner, Michael, Scherer, Martin, Ravel, Aimé, Mircher, Clotilde, Cieuta-Walti, Cecile, Durand, Sophie, van de Hove, Daniel L A, Hoffmann, Per, Ramirez, Alfredo, Haaf, Thomas, El Hajj, Nady, Mégarbané, André

Get full text

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ by Mégarbané, André, Noguier, Florian, Stora, Samantha, Manchon, Laurent, Mircher, Clotilde, Bruno, Roman, Dorison, Nathalie, Pierrat, Fabien, Rethoré, Marie-Odile, Trentin, Bernadette, Ravel, Aimé, Morent, Marine, Lefranc, Gerard, Piquemal, David

Get full text

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? by Ravel, Aimé, Chouery, Eliane, Stora, Samantha, Jalkh, Nadine, Villard, Laurent, Temtamy, Samia, Mégarbané, André

Get full text

Anthropometric charts and congenital anomalies in newborns with Down syndrome by Mircher, Clotilde, Toulas, Jeanne, Cieuta‐Walti, Cécile, Marey, Isabelle, Conte, Martine, González Briceño, Laura, Tanguy, Marie‐Laure, Rethore, Marie‐Odile, Ravel, Aime

Get full text

Growth curves for French people with Down syndrome from birth to 20years of age by Mircher, Clotilde, Briceño, Laura G, Toulas, Jeanne, Conte, Martine, Marie‐Laure Tanguy, Cécile Cieuta‐Walti, Marie‐Odile Rethore, Ravel, Aimé

Get full text

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study by Fauroux, Brigitte, Sacco, Silvia, Couloigner, Vincent, Amaddeo, Alessandro, Ravel, Aimé, Prioux, Emmanuelle, Toulas, Jeanne, Cieuta-Walti, Cécile, Walti, Hervé, Luscan, Romain, Falquero, Ségolène, Clert, Manon, Caillaud, Marie-Anne, De Sanctis, Livio, Khirani, Sonia, Marey, Isabelle, Mircher, Clotilde

Get full text

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional studyResearch in context by Brigitte Fauroux, Silvia Sacco, Vincent Couloigner, Alessandro Amaddeo, Aimé Ravel, Emmanuelle Prioux, Jeanne Toulas, Cécile Cieuta-Walti, Hervé Walti, Romain Luscan, Ségolène Falquero, Manon Clert, Marie-Anne Caillaud, Livio De Sanctis, Sonia Khirani, Isabelle Marey, Clotilde Mircher

Get full text