Výsledky vyhledávání - Florence Dastot

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  1. 1
    Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene<sup>1</sup>

    Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene<sup>1</sup> Autor Irène Netchine, Philippe Talon, Florence Dastot, F. Vitaux, Michel Goossens, Serge Amselem

    Vydáno 1998
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  2. 2
    Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

    Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. Autor Florence Dastot, Marie‐Laure Sobrier, Philippe Duquesnoy, Bénédicte Duriez, M Goossens, Serge Amselem

    Vydáno 1996
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  3. 3
    Review and update of mutations causing Waardenburg syndrome

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

    Vydáno 2010
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    Revisão
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  4. 4
    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 Autor V. Cacheux, Florence Dastot‐Le Moal, H Kääriäinen, Nadège Bondurand, Risto Rintala, Brigitte Boissier, Megan J. Wilson, David Mowat, M. Goossens

    Vydáno 2001
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  5. 5
    A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

    A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activit... Autor Philippe Duquesnoy, Marie‐Laure Sobrier, Bénédicte Duriez, Florence Dastot, C R Buchanan, Martin O. Savage, Michael A. Preece, Constantin T. Craescu, Y. Blouquit, Michel Goossens

    Vydáno 1994
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  6. 6
    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 Autor 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

    Vydáno 2001
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  7. 7
    Phenotype: Genotype Relationships in Growth Hormone Insensitivity Syndrome1

    Phenotype: Genotype Relationships in Growth Hormone Insensitivity Syndrome1 Autor Katie A. Woods, Florence Dastot, Michael A. Preece, Adrian Clark, Marie-Catherine Postel-Vinay, Pierre Chatelain, Michael B. Ranke, Ron G. Rosenfeld, Serge Amselem, Martin O. Savage

    Vydáno 1997
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  8. 8
    Human Prop‐1: cloning, mapping, genomic structure

    Human Prop‐1: cloning, mapping, genomic structure Autor Philippe Duquesnoy, Anne Roy, Florence Dastot, Isis Ghali, Cécile Teinturier, Irène Netchine, Valère Cacheux, Mona Hafez, Nermine Salah, Jean‐Louis Chaussain, Michel Goossens, Pierre Bougnères, Serge Amselem

    Vydáno 1998
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  9. 9
    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 Autor Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J. A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge

    Vydáno 2001
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  10. 10
    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 Autor 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

    Vydáno 2016
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  11. 11
    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> Autor 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

    Vydáno 2003
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  12. 12
    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 Autor 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

    Vydáno 2007
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  13. 13
    Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

    Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia Autor Marie Legendre, Sylvain Blanchon, Bruno Copin, Philippe Duquesnoy, Guy Montantin, Esther Kott, Florence Dastot, L. Jeanson, Marine Cachanado, Alexandra Rousseau, Jean‐François Papon, Aline Tamalet, AM Vojtek, Denise Escalier, A. Coste, J. de Blic, A. Clément, Estelle Escudier, Serge Amselem

    Vydáno 2012
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  14. 14
    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 Autor 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

    Vydáno 2012
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  15. 15
    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 Autor 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

    Vydáno 2015
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  16. 16
    Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

    Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia Autor Marjorie Whitfield, Lucie Thomas, Émilie Béquignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, S. Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot‐Bastaraud, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean‐Pierre Siffroi, Jean‐François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre

    Vydáno 2019
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  17. 17
    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 Autor 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

    Vydáno 2016
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  18. 18
    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 Autor 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

    Vydáno 2016
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  19. 19
    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 Autor 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

    Vydáno 2013
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  20. 20
    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 Autor 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

    Vydáno 2020
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