檢索結果 - Véronique Pingault

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  1. 1
    News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders

    News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders 由 Nadège Bondurand, Sylvie Dufour, Véronique Pingault

    出版 2018
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  2. 2
    SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

    SOX10: 20 years of phenotypic plurality and current understanding of its developmental function 由 Véronique Pingault, Lisa Zerad, William Bertani‐Torres, Nadège Bondurand

    出版 2021
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  3. 3
    Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients

    Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients 由 Kirsten Kuhlbrodt, Claudia Schmidt, Elisabeth Sock, Véronique Pingault, Nadège Bondurand, Michel Goossens, Michael Wegner

    出版 1998
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  4. 4
    Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome

    Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome 由 Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Véronique Pingault, Nadège Bondurand

    出版 2011
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  5. 5
    Review and update of mutations causing Waardenburg syndrome

    Review and update of mutations causing Waardenburg syndrome 由 Véronique Pingault, D. Ente, Florence Dastot‐Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand

    出版 2010
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  6. 6
    MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

    MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function 由 Christine Grill, Kristín Bergsteinsdóttir, Margrét H. Ögmundsdóttir, Vivian Pogenberg, Alexander Schepsky, Matthias Wilmanns, Véronique Pingault, Eirı́kur Steingrı́msson

    出版 2013
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  7. 7
    Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease

    Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease 由 Beate Herbarth, Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt, Irm Hermans‐Borgmeyer, Aldamaria Puliti, N Lemort, M. Goossens, Michael Wegner

    出版 1998
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  8. 8
    Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations

    Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations 由 Monique Elmaleh, Clarisse Baumann, N. Noël‐Pétroff, A. Sekkal, V. Couloigner, Koenraad Devriendt, Meredith Wilson, Sandrine Marlin, G. Sebag, Véronique Pingault

    出版 2012
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  9. 9
    Expression of the <i>SOX10</i> gene during human development

    Expression of the <i>SOX10</i> gene during human development 由 Nadège Bondurand, Alexandra Kobetz, Véronique Pingault, N Lemort, Férechté Encha‐Razavi, G Couly, Derk E. Goerich, Michael Wegner, Marc Abitbol, Michel Goossens

    出版 1998
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  10. 10
    A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

    A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies 由 Nadège Bondurand, Kirsten Kuhlbrodt, Véronique Pingault, Janna Enderich, M. Sajus, Niels Tommerup, Mette Warburg, Raoul C. M. Hennekam, Andrew Read, Michael Wegner, Michel Goossens

    出版 1999
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  11. 11
    Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants

    Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants 由 William Bertani‐Torres, Karina Lezirovitz, D. Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault, Regina Célia Mingroni‐Netto

    出版 2023
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  12. 12
    ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

    ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development 由 Nadjet Gacem, Anthula Kavo, Lisa Zerad, Laurence Richard, Stéphane Mathis, Raj P. Kapur, Mélanie Parisot, Jeanne Amiel, Sylvie Dufour, Pierre de la Grange, Véronique Pingault, J.M. Vallat, Nadège Bondurand

    出版 2020
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  13. 13
    Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

    Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain 由 Renaud Touraine, Tania Attié‐Bitach, E. Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Férechté Encha‐Razavi, Anna Pelet, Joëlle Augé, A Nivelon‐Chevallier, A. M. Holschneider, Marc Munnes, Walter Doerfler, Michel Goossens, A Munnich, Michel Vekemans, Stanislas Lyonnet

    出版 2000
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  14. 14
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 由 Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault

    出版 2007
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  15. 15
    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness 由 Véronique Pingault, Virginie Bodereau, Viviane Baral, Séverine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, O. Vérier‐Mine, Christine Francannet, Delphine Dupin‐Deguine, F. Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean‐Pierre Hardelin, Catherine Dodé, Nadège Bondurand

    出版 2013
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  16. 16
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases 由 Nancy Végas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa Luiza Romanelli Tavares, Hugo Moisset, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon‐Yin Chung, Nicole Revençu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda P. Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter M. Kroisel, Tiong Yang Tan, Alex Henderson, Paulien A. Terhal, Lina Basel‐Vanagaite, A. Alkindy, Susan M. White, Maria Rita Passos‐Bueno, Véronique Pingault, Loïc de Pontual, Jeanne Amiel

    出版 2022
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  17. 17
    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 由 Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    出版 2023
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  18. 18
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 由 Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    出版 2020
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