檢索結果 - David Geneviève

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  1. 1
    Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies

    Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies 由 Mouna Barat‐Houari, Guillaume Sarrabay, Vincent Gâtinois, Aurélie Fabre, Bruno Dumont, David Geneviève, Isabelle Touitou

    出版 2015
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  2. 2
    Genome-wide Expression Profiling Implicates a MAST3-Regulated Gene Set in Colonic Mucosal Inflammation of Ulcerative Colitis Patients

    Genome-wide Expression Profiling Implicates a MAST3-Regulated Gene Set in Colonic Mucosal Inflammation of Ulcerative Colitis Patients 由 Labbé, Catherine, Boucher, Gabrielle, Foisy, Sylvain, Alikashani, Azadeh, Nkwimi, Herbert, David, Geneviève, Beaudoin, Mélissa, Goyette, Philippe, Charron, Guy, Xavier, Ramnik J., Rioux, John D.

    出版 2011
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  3. 3
    The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome 由 Nicole Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Connie Schrander‐Stumpel, Damien Sanlaville, David Geneviève, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, J P Fryns, Joris Vermeesch

    出版 2007
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  4. 4
    IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine production

    IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine production 由 Pauline Escobar, Céline Bouclier, Julien Serret, Ivan Bièche, Madly Brigitte, Andrés Caicedo, Elodie Sanchez, Sophie Vacher, Marie‐Luce Vignais, Philippe Bourin, David Geneviève, Franck Molina, Christian Jørgensen, Gwendal Lazennec

    出版 2015
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  5. 5
    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome 由 Élise Schaefer, Corinne Collet, David Geneviève, Marie Vincent, Dietmar Lohmann, Elodie Sanchez, Chantal Bolender, Marie‐Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel Van Maldergem, Bérénice Doray

    出版 2014
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  6. 6
    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties 由 David Geneviève, Damien Sanlaville, Laurence Faivre, Marie‐Laure Kottler, Marguerite Jambou, Philippe Gosset, Dinane Boustani-Samara, Graziella Pinto, Catherine Ozilou, Geneviève Abéguilé, Arnold Munnich, Serge Romana, O Raoul, Valérie Cormier‐Daire, Michel Vekemans

    出版 2005
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  7. 7
    Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

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

    出版 2000
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  8. 8
    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 由 Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Geneviève, Olivier Goulet, Jean‐Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa‐Lyonnet

    出版 2006
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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 由 Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    出版 2009
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  10. 10
    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 由 Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier‐Daire, Hilde Van Esch, Jean‐Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven

    出版 2006
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  11. 11
    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans 由 Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel

    出版 2011
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  12. 12
    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 由 Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson, Xavier H. Jaglin, Catherine Fallet‐Bianco, Rima Nabbout, Laëtitia Castelnau-Ptakhine, Agathe Roubertie, Tania Attié‐Bitach, Isabelle Desguerre, David Geneviève, Christine Barnérias, Boris Keren, Nicolas Lebrun, Nathalie Boddaert, Férechté Encha‐Razavi, Jamel Chelly

    出版 2010
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  13. 13
    No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families

    No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families 由 Marion Imbert‐Bouteille, Carole Corsini, Marie‐Christine Picot, Lucas Mizrahy, Sandrine Akouete, Hélèna Huguet, Frédéric Thomas, David Geneviève, Patrice Taourel, Marc Ychou, Virginie Galibert, Chloé Rideau, Karen Baudry, Tatiana Kogut Kubiak, Isabelle Coupier, Rémy Hobeika, Yvette Macary, Alain Tolédano, Jérôme Solassol, Antoine Maalouf, Jean‐Pierre Daurès, Pascal Pujol

    出版 2021
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  14. 14
    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes 由 Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie‐Ange Delrue, Joris Andrieux, Laurence Perrin‐Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda, David Geneviève

    出版 2013
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  15. 15
    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy 由 Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy

    出版 2004
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  16. 16
    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience 由 Mélanie Rama, Claire Duflos, Isabelle Melki, D. Bessis, A. Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Geneviève, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel‐Moranne, N. Tieulié, Jonathan London, Florence Uettwiller, Sophie Georgin‐Lavialle, Alexandre Bélot, Isabelle Koné‐Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay

    出版 2018
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  17. 17
    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome 由 Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attié‐Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier‐Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, E. Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kévin Yauy, David Geneviève, Roman Hossein Khonsari, Nicolas Garcelon

    出版 2024
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  18. 18
    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy 由 Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth E. Palmer, Michael Field, Jackie Boyle, David Chitayat, William D. Gaillard, Eric H. Kossoff, Marjolaine Willems, David Geneviève, Frédéric Tran Mau‐Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel‐Paulet, Amélie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky‐Silver, Tally Lerman‐Sagie

    出版 2016
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  19. 19
    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice 由 Aia Elise Jønch, Élise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R. Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurélie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne‐Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke S. Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch‐Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont

    出版 2019
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  20. 20
    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 由 Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau‐Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gâtinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean‐François Deleuze, Robert Olaso, Walton Nephi, Hermann‐Josef Lüdecke, Joanne Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean‐Baptiste Rivière, Jean Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève

    出版 2019
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