Resultados de procura - Sylvie Rossignol

  • Mostrando 1 - 14 Resultados de 14
Limitar resultados
  1. 1
    The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

    The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region por Sylvie Rossignol, Virginie Steunou, Céline Chalas, Antoine Kerjean, Muriel Rigolet, E. Viégas-Pèquignot, Pierre Jouannet, Yves Le Bouc, Christine Gicquel

    Publicado 2006
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  2. 2
    BOLD signal responses to controlled hypercapnia in human spinal cord

    BOLD signal responses to controlled hypercapnia in human spinal cord por Julien Cohen‐Adad, Claudine Gauthier, J.C. Brooks, Marat Slessarev, Jay Han, Joseph A. Fisher, Sylvie Rossignol, Richard D. Hoge

    Publicado 2010
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  3. 3
    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome por Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux

    Publicado 2004
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  4. 4
    Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

    Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylatio... por Salah Azzi, Sylvie Rossignol, Virginie Steunou, Theo Sas, Nathalie Thibaud, Fabienne Danton, Maryline Le Jule, Claudine Heinrichs, Sylvie Cabrol, Christine Gicquel, Yves Le Bouc, Irène Netchine

    Publicado 2009
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  5. 5
    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders

    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders por Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart, Marie‐Laure Sobrier, Éloïse Giabicani, Virginie Steunou, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine

    Publicado 2019
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  6. 6
    Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

    Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders por Julie Demars, Mansur E Shmela, Sylvie Rossignol, Jun Okabe, Irène Netchine, Salah Azzi, Sylvie Cabrol, Cédric Le Caignec, Albert David, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    Publicado 2009
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  7. 7
    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects por Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur E Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    Publicado 2011
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  8. 8
    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... por Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    Publicado 2014
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  9. 9
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences por Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    Publicado 2017
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  10. 10
    11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

    11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlatio... por Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg, Salah Azzi, Alexandra Rousseau, Laurence Périn, Muriel Houang, Virginie Steunou, Blandine Esteva, Nathalie Thibaud, Marie-Charles Raux Demay, Fabienne Danton, Elżbieta Petriczko, Anne‐Marie Bertrand, Claudine Heinrichs, Jean‐Claude Carel, Guy‐André Loeuille, Graziella Pinto, Marie‐Line Jacquemont, Christine Gicquel, Sylvie Cabrol, Yves Le Bouc

    Publicado 2007
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  11. 11
    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization por Frédéric Brioude, Irène Netchine, Françoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert‐Bellanger, Lydie Bürglen, Fabienne Giuliano, Jean‐Luc Alessandri, Valérie Cormier‐Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Bérénice Doray, Alain Verloès, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol

    Publicado 2015
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  12. 12
    Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

    Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations por Hélène Dollfus, Marc R. Liliën, Pietro Maffei, Alain Verloès, Jean Muller, Giacomo Maria Bacci, Metin Cetiner, Erica L T van den Akker, Monika Grudzinska Pechhacker, Francesco Testa, Didier Lacombe, Marijn Stokman, Francesca Simonelli, Aurélie Gouronc, Amélie Gavard, Mieke M. van Haelst, Jens Koenig, Sylvie Rossignol, Carsten Bergmann, Miriam Zacchia, Bart P. Leroy, Héléna Mosbah, Albertien M. van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou, Diana Valverde

    Publicado 2024
    Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:
  13. 13
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome por Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    Publicado 2018
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  14. 14
    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement por Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher

    Publicado 2018
    Ligazón do recurso Ligazón do recurso
    Revisão
    Engadir a favoritos
    Gardado en:

Ferramentas de procura: