Search Results - Geneviève, David

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  1. 1
    Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

    Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay by 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

    Published 2012
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  2. 2
    Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

    Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability by 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

    Published 2014
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  3. 3
    Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

    Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling by 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

    Published 2014
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  4. 4
    Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

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

    Published 2019
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  5. 5
    Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives

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

    Published 2018
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  6. 6
    The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome by 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

    Published 2007
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  7. 7
    The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome by 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

    Published 2009
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  8. 8
    Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

    Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever by 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

    Published 2000
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  9. 9
    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

    DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III by 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

    Published 2009
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  10. 10
    Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

    Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes by 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

    Published 2006
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  11. 11
    Reply to Salviati et al.

    Reply to Salviati et al. by 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

    Published 2006
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  12. 12
    Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation

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

    Published 2022
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  13. 13
    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome by 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

    Published 2006
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  14. 14
    Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

    Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia by 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

    Published 2011
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  15. 15
    Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

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

    Published 2011
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  16. 16
    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects by 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

    Published 2010
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  17. 17
    TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin

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

    Published 2017
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  18. 18
    Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

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

    Published 2019
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  19. 19
    Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

    Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability by 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

    Published 2014
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  20. 20
    Anatomical and functional abnormalities on MRI in kabuki syndrome

    Anatomical and functional abnormalities on MRI in kabuki syndrome by 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

    Published 2018
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