检索结果 - Valérie Drouin‐Garraud

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  1. 1
    Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

    Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome 由 Nathalie Boutet, Yves‐Jean Bignon, Valérie Drouin‐Garraud, Pierre Sarda, Michel Longy, Didier Lacombe, Philippe Gorry

    出版 2003
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  2. 2
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome 由 Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    出版 2007
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  3. 3
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype 由 Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    出版 2014
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  4. 4
    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip 由 M. Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau, Sylvain Baulande, Denis Pierron, Didier Lacombe, F Duriez, Christine Francannet, T. Mom, Hubert Journel, Hélène Catros, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Hélène Dollfus, Marie‐Madeleine Eliot, Laurence Faivre, C. Duvillard, Rémy Couderc, Éréa-Noël Garabédian, Christine Petit, Delphine Feldmann, Françoise Denoyelle

    出版 2007
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  5. 5
    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations 由 Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gérard, Juliane Léger, Valérie Drouin‐Garraud, Hervé Lefèbvre, Michel Polak, Jean‐Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolás de Roux, Nelly Pitteloud

    出版 2014
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  6. 6
    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations 由 Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, N. Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, F Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Éréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle

    出版 2006
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  7. 7
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease 由 Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    出版 2010
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  8. 8
    Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

    Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation 由 Audrey Guilmatre, Christèle Dubourg, A.L. Mosca, Solenn Legallic, Alice Goldenberg, Valérie Drouin‐Garraud, Valérie Layet, Antoine Rosier, Sylvain Briault, Frédérique Bonnet‐Brilhault, Frédéric Laumonnier, Sylvie Odent, G. Le Vacon, Géraldine Joly‐Helas, Véronique David, Claude Bendavid, Jean‐Michel Pinoit, Céline Henry, Caterina Impallomeni, Eva Germanò, Gaetano Tortorella, Gabriella Di Rosa, Catherine Barthélémy, Christian Andrés, Laurence Faivre, Thierry Frébourg, Pascale Saugier‐Veber, Dominique Campion

    出版 2009
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  9. 9
    TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

    TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella 由 Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield, Guillaume Thouvenin, A. Coste, Bruno Louis, Claire Szymanski, Émilie Béquignon, Jean‐François Papon, Manon Castelli, Michel Lemullois, X. Dhalluin, Valérie Drouin‐Garraud, Guy Montantin, S. Tissier, Philippe Duquesnoy, Bruno Copin, Florence Dastot, Sandrine Couvet, Anne‐Laure Barbotin, Catherine Faucon, Isabelle Honoré, Bernard Maître, Nicole Beydon, Aline Tamalet, Nathalie Rives, France Koll, Estelle Escudier, Anne‐Marie Tassin, Aminata Touré, Valérie Mitchell, Serge Amselem, Marie Legendre

    出版 2020
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  10. 10
    Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

    Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia 由 Slimane Allali, Carine Le Goff, I. Pressac-Diebold, G. Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F. Brady, Yanick J. Crow, Koenraad Devriendt, Valérie Drouin‐Garraud, Elisabeth Flori, D. Genevieve, R Hennekam, Jane A. Hurst, Deborah Krakow, M Le Merrer, Klaske D. Lichtenbelt, Sally Ann Lynch, Stanislas Lyonnet, K D MacDermot, Sahar Mansour, André Mégarbané, Helena G. Dos Santos, M. Splitt, Andrea Superti‐Furga, Sheila Unger, Denise Williams, A Munnich, Valérie Cormier‐Daire

    出版 2011
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  11. 11
    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome 由 Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns

    出版 2012
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  12. 12
    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome

    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome 由 Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin–Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus

    出版 2009
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  13. 13
    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis 由 Crystel Bonnet, M’hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, M. Parodi, Magali Niasme-Grare, Diana Zélénika, Marc Delépine, Delphine Feldmann, Laurence Jonard, A. Amraoui, Dominique Weil, Bruno Delobel, C. Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Jacqueline Vigneron, B. Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, T. Mom, Didier Lacombe, F Duriez, Valérie Drouin‐Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José‐Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle

    出版 2011
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  14. 14
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing 由 Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    出版 2014
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  15. 15
    Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

    Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study 由 Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

    出版 2016
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  16. 16
    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases 由 Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz

    出版 2014
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  17. 17
    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects 由 Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki

    出版 2013
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  18. 18
    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy 由 Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte

    出版 2012
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