Search Results - Nadège Gigot

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  1. 1
    Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

    Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma by Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean‐Baptiste Rivière, Julien Thévenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Christel Thauvin, Abdelaziz Sefiani, P. Vabres, Laurence Faivre

    Published 2014
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  2. 2
    Cohen syndrome is associated with major glycosylation defects

    Cohen syndrome is associated with major glycosylation defects by Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet

    Published 2013
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  3. 3
    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation by Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, Vicente Herranz‐Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St‐Onge, Ange‐Line Bruel, Julien Thévenon, Susana González-Granero, Caroline Alby, Arnold Münnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean‐Baptiste Rivière, Tania Attié‐Bitach, José Manuel García‐Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury

    Published 2014
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  4. 4
    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability by Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon, Yannis Duffourd, Judith St‐Onge, Pascal Chambon, Jean‐Baptiste Rivière, Christel Thauvin‐Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clémence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Caldérari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean‐Michel Pinoit, Antoine Rosier, Alice Masurel‐Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier‐Veber, Dominique Campion, Laurence Faivre, Thomas Bourgeron

    Published 2015
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  5. 5
    In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

    In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome by Virginie Carmignac, Julien Thevenon, Lesley C. Adès, Bert Callewaert, Sophie Julia, Christel Thauvin‐Robinet, Lucie Gueneau, Jean‐Benoît Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne H. Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, P. Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sánchez del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod‐Béroud, Christophe Béroud, Jeanne Amiel, Valérie Cormier‐Daire, Jean‐Baptiste Rivière, Cathérine Boileau, Anne De Paepe, Laurence Faivre

    Published 2012
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  6. 6
    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes by Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    Published 2017
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    Revisão
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