Evaluation of the Effectiveness of Therapy for Anxiety in Williams Beuren Syndrome Using a Smartphone App: Protocol for a Single-Case Experiment

por Lehman, Natacha, Trouillet, Raphaël, Genevieve, David
Publicado 2023

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA

por Coutelle, Romain, Boedec, Morgane, Vermeulen, Karlijn, Kummeling, Joost, Koolen, David A., Kleefstra, Tjitske, Fournier, Camille, Colin, Florent, Strehle, Axelle, Geneviève, David, Burger, Pauline, Mandel, Jean-Louis
Publicado 2022

Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

por Baide‐Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie‐Claire, François‐Heude, Marie‐Céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe
Publicado 2023

IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine production

por Escobar, Pauline, Bouclier, Céline, Serret, Julien, Bièche, Ivan, Brigitte, Madly, Caicedo, Andres, Sanchez, Elodie, Vacher, Sophie, Vignais, Marie-Luce, Bourin, Philippe, Geneviève, David, Molina, Franck, Jorgensen, Christian, Lazennec, Gwendal
Publicado 2015

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

por Yauy, Kevin, Schneider, Anouck, Ng, Bee Ling, Gaillard, Jean-Baptiste, Sati, Satish, Coubes, Christine, Wells, Constance, Tournaire, Magali, Guignard, Thomas, Bouret, Pauline, Geneviève, David, Puechberty, Jacques, Pellestor, Franck, Gatinois, Vincent
Publicado 2019

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives

por Vande Perre, Pierre, Toledano, Daniel, Corsini, Carole, Escriba, Elsa, Laporte, Marine, Bertet, Helena, Yauy, Kevin, Toledano, Alain, Galibert, Virginie, Baudry, Karen, Clotet, Lucie, Million, Elodie, Picot, Marie‐Christine, Geneviève, David, Pujol, Pascal
Publicado 2018

Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation

por Pujol, Pascal, Yauy, Kevin, Coffy, Amandine, Duforet-Frebourg, Nicolas, Gabteni, Sana, Daurès, Jean-Pierre, Penault Llorca, Frédérique, Thomas, Frédéric, Hughes, Kevin, Turnbull, Clare, Galibert, Virginie, Rideau, Chloé, Corsini, Carole, Collet, Laetitia, You, Benoit, Geneviève, David, Philippe, Nicolas
Publicado 2022

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

por de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Ventura, Andrea, Amiel, Jeanne
Publicado 2011

TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin

por Khalifa, Olfa, Balandraud, Nathalie, Lambert, Nathalie, Auger, Isabelle, Roudier, Jean, Sénéchal, Audrey, Geneviève, David, Picard, Christophe, Lefranc, Gérard, Touitou, Isabelle, Mrenda, Bakridine M'Madi, Benedito, Cécilia, Pardoux, Etienne, Gagez, Anne-Laure, Pers, Yves-Marie, Jorgensen, Christian, Mahjoub, Touhami, Apparailly, Florence
Publicado 2017

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

por Gatinois, Vincent, Bigi, Nicole, Mousty, Eve, Chiesa, Jean, Musizzano, Yuri, Schneider, Anouck, Lefort, Geneviève, Pinson, Lucile, Gaillard, Jean‐Baptiste, Ragon, Clémence, Perez, Marie‐Josée, Tournaire, Magali, Blanchet, Patricia, Corsini, Carole, Haquet, Emmanuelle, Callier, Patrick, Geneviève, David, Pellestor, Franck, Puechberty, Jacques
Publicado 2019

Anatomical and functional abnormalities on MRI in kabuki syndrome

por Boisgontier, Jennifer, Tacchella, Jean Marc, Lemaître, Hervé, Lehman, Natacha, Saitovitch, Ana, Gatinois, Vincent, Boursier, Guilaine, Sanchez, Elodie, Rechtman, Elza, Fillon, Ludovic, Lyonnet, Stanislas, Le Quang Sang, Kim-Hanh, Baujat, Genevieve, Rio, Marlene, Boute, Odile, Faivre, Laurence, Schaefer, Elise, Sanlaville, Damien, Zilbovicius, Monica, Grévent, David, Geneviève, David, Boddaert, Nathalie
Publicado 2018

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families

por Imbert-Bouteille, Marion, Corsini, Carole, Picot, Marie-Christine, Mizrahy, Lucas, Akouete, Sandrine, Huguet, Helena, Thomas, Frédéric, Geneviève, David, Taourel, Patrice, Ychou, Marc, Galibert, Virginie, Rideau, Chloé, Baudry, Karen, Kogut Kubiak, Tatiana, Coupier, Isabelle, Hobeika, Rémy, Macary, Yvette, Toledano, Alain, Solassol, Jérôme, Maalouf, Antoine, Daures, Jean-Pierre, Pujol, Pascal
Publicado 2021

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

por Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna
Publicado 2019

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

por Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, Faivre, Laurence
Publicado 2021

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

por Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Publicado 2019

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

por Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie
Publicado 2022

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

por Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste
Publicado 2019

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

por Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke B. G. M., Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David
Publicado 2019

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

por Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d’Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel
Publicado 2023

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

por Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Publicado 2021