检索结果 - Geneviève, David

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay 由 Amouroux, Cyril, Vincent, Marie, Blanchet, Patricia, Puechberty, Jacques, Schneider, Anouck, Chaze, Anne Marie, Girard, Manon, Tournaire, Magali, Jorgensen, Christian, Morin, Denis, Sarda, Pierre, Lefort, Geneviève, Geneviève, David

获取全文 获取全文 获取全文

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability 由 Vincent, Marie, Collet, Corinne, Verloes, Alain, Lambert, Laetitia, Herlin, Christian, Blanchet, Catherine, Sanchez, Elodie, Drunat, Séverine, Vigneron, Jacqueline, Laplanche, Jean-Louis, Puechberty, Jacques, Sarda, Pierre, Geneviève, David

获取全文 获取全文 获取全文

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling 由 Corsini, Carole, Gencik, Martin, Willems, Marjolaine, Decker, Eva, Sanchez, Elodie, Puechberty, Jacques, Schneider, Anouck, Girard, Manon, Edery, Patrick, Bretonnes, Patricia, Cottalorda, Jérôme, Lefort, Geneviève, Jeandel, Claire, Sarda, Pierre, Genevieve, David

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

The C20orf133 gene is disrupted in a patient with Kabuki syndrome 由 Maas, Nicole M C, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander‐Stumpel, Constance T R M, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean‐Pierre, Vermeesch, Joris R

获取全文 获取全文 获取全文

The C20orf133 gene is disrupted in a patient with Kabuki syndrome 由 Maas, Nicole M C, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander-Stumpel, Constance T R M, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean-Pierre, Vermeesch, Joris R

获取全文 获取全文 获取全文

Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever 由 Cazeneuve, Cécile, Ajrapetyan, Hasmik, Papin, Stéphanie, Roudot-Thoraval, Françoise, Geneviève, David, Mndjoyan, Elizaveta, Papazian, Marina, Sarkisian, Ashot, Babloyan, Ara, Boissier, Brigitte, Duquesnoy, Philippe, Kouyoumdjian, Jean-Claude, Girodon-Boulandet, Emmanuelle, Grateau, Gilles, Sarkisian, Tamara, Amselem, Serge

获取全文 获取全文

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III 由 Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

获取全文 获取全文 获取全文

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes 由 Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine de, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique

获取全文 获取全文

Reply to Salviati et al. 由 Sanlaville, Damien, Delnatte, Capucine, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, de Blois, Marie-Christine, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique

获取全文

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

获取全文 获取全文 获取全文

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome 由 Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans

获取全文 获取全文

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia 由 Cognet, Marie, Nougayrede, Agnés, Malan, Valérie, Callier, Patrick, Cretolle, Celia, Faivre, Laurence, Genevieve, David, Goldenberg, Alice, Heron, Delphine, Mercier, Sandra, Philip, Nicole, Sigaudy, Sabine, Verloes, Alain, Sarnacki, Sabine, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas, Etchevers, Heather, Amiel, Jeanne, Pontual, Loïc de

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects 由 Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability 由 Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David

获取全文 获取全文 获取全文

Anatomical and functional abnormalities on MRI in kabuki syndrome 由 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

获取全文 获取全文 获取全文