Search Results - Florence Dastot‐Le Moal

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  1. 1
    Review and update of mutations causing Waardenburg syndrome

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

    Published 2010
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  2. 2
    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease by V. Cacheux, Florence Dastot‐Le Moal, H Kääriäinen, Nadège Bondurand, Risto Rintala, Brigitte Boissier, Megan J. Wilson, David Mowat, M. Goossens

    Published 2001
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  3. 3
    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 by Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger, Olivier Camand, Marie‐Laure Sobrier, Florence Dastot‐Le Moal, Philippe Duquesnoy, Marc Abitbol, Paul Czernichow, Serge Amselem

    Published 2001
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  4. 4
    Mutations in<i>GAS8</i>, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

    Mutations in<i>GAS8</i>, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization by Ludovic Jeanson, Lucie Thomas, Bruno Copin, A. Coste, Isabelle Sermet‐Gaudelus, Florence Dastot‐Le Moal, Philippe Duquesnoy, Guy Montantin, Nathalie Collot, S. Tissier, Jean‐François Papon, Annick Clément, Bruno Louis, Estelle Escudier, Serge Amselem, Marie Legendre

    Published 2016
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  5. 5
    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i>

    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> by Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens

    Published 2003
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  6. 6
    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 by 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

    Published 2007
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  7. 7
    Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

    Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia by Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot‐Le Moal, Guy Montantin, Ludovic Jeanson, Aline Tamalet, Jean‐François Papon, Jean‐Pierre Siffroi, Nathalie Rives, Valérie Mitchell, J. de Blic, A. Coste, Annick Clément, Denise Escalier, Aminata Touré, Estelle Escudier, Serge Amselem

    Published 2012
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  8. 8
    RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

    RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes by Ludovic Jeanson, Bruno Copin, Jean‐François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Jacques Cadranel, Harriet Corvol, A. Coste, Julie Désir, Anissa Souayah, Esther Kott, Nathalie Collot, S. Tissier, Bruno Louis, Aline Tamalet, J. de Blic, Annick Clément, Estelle Escudier, Serge Amselem, Marie Legendre

    Published 2015
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  9. 9
    Germline<i>SFTPA1</i>mutation in familial idiopathic interstitial pneumonia and lung cancer

    Germline<i>SFTPA1</i>mutation in familial idiopathic interstitial pneumonia and lung cancer by Nadia Nathan, Violaine Giraud, C. Picard, Hilario Nunès, Florence Dastot‐Le Moal, Bruno Copin, Laurie Galeron, Alice De Ligniville, Nathalie Kuziner, Martine Reynaud‐Gaubert, Dominique Valeyre, Louis‐Jean Couderc, Thierry Chinet, Raphaël Borie, Bruno Crestani, Maud Simansour, Valérie Nau, S. Tissier, Philippe Duquesnoy, Lamisse Mansour‐Hendili, Marie Legendre, Caroline Kannengiesser, Aurore Coulomb‐L'Herminé, Laurent Gouya, Serge Amselem, Annick Clément

    Published 2016
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  10. 10
    Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

    Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility by Elma El Khouri, Lucie Thomas, Ludovic Jeanson, Émilie Béquignon, Benoit Vallette, Philippe Duquesnoy, Guy Montantin, Bruno Copin, Florence Dastot‐Le Moal, Sylvain Blanchon, Jean‐François Papon, Patrick Lorès, Li Yuan, Nathalie Collot, S. Tissier, Catherine Faucon, Gérard Gâcon, Catherine Patrat, Jean Philippe Wolf, Emmanuel Dulioust, Bruno Crestani, Estelle Escudier, A. Coste, Marie Legendre, Aminata Touré, Serge Amselem

    Published 2016
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  11. 11
    Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

    Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects by Esther Kott, Marie Legendre, Bruno Copin, Jean‐François Papon, Florence Dastot‐Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, J. Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Hubert Journel, J. Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, A. Coste, Annick Clément, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem

    Published 2013
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  12. 12
    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects by Emma Hilton, Jennifer J. Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro NISHIO, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony T. Moore, David Fitzpatrick, Johannes R. Lemke, Florence Fellmann, François‐Guillaume Debray, Florence Dastot-Le-Moal, Marion Gérard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloès, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly N. Hay, Kim Jenny, Kathreen Johnston, Michael J. Lyons, John W. Belmont, Leslie G. Biesecker, Irina Giurgea, Graeme Black

    Published 2009
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  13. 13
    Functional assessment and phenotypic heterogeneity of <i>SFTPA1</i> and <i>SFTPA2</i> mutations in interstitial lung diseases and lung cancer

    Functional assessment and phenotypic heterogeneity of <i>SFTPA1</i> and <i>SFTPA2</i> mutations in interstitial lung diseases and lung cancer by Marie Legendre, Afifaa Butt, Raphaël Borie, Marie‐Pierre Debray, Diane Bouvry, Emilie Filhol-Blin, Tifenn Desroziers, Valérie Nau, Bruno Copin, Florence Dastot‐Le Moal, Mélanie Héry, Philippe Duquesnoy, Nathalie Allou, Anne Bergeron, Julien Bermudez, Aurélie Cazes, Anne‐Laure Chéné, Vincent Cottin, Bruno Crestani, Jean‐Charles Dalphin, Christine Dombret, Bérénice Doray, Clairelyne Dupin, Violaine Giraud, Anne Gondouin, Laurent Gouya, Dominique Israëł-Biet, Caroline Kannengiesser, A. Le Borgne, Sylvie Leroy, Élisabeth Longchampt, Gwenaël Lorillon, Hilario Nunès, C. Picard, Martine Reynaud‐Gaubert, Julie Traclet, Paul De Vuyst, Aurore Coulomb‐L'Herminé, Annick Clément, Serge Amselem, Nadia Nathan

    Published 2020
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