检索结果 - Catherine Dodé

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  1. 1
    PROK2/PROKR2 Signaling and Kallmann Syndrome

    PROK2/PROKR2 Signaling and Kallmann Syndrome 由 Catherine Dodé, Philippe Rondard

    出版 2013
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  2. 2
    The Complex Genetics of Kallmann Syndrome: <i>KAL1, FGFR1, FGF8, PROKR2, PROK2</i>, et al.

    The Complex Genetics of Kallmann Syndrome: <i>KAL1, FGFR1, FGF8, PROKR2, PROK2</i>, et al. 由 Jean-Pierre Hardelin, Catherine Dodé

    出版 2008
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  3. 3
    Kallmann syndrome

    Kallmann syndrome 由 Catherine Dodé, Jean‐Pierre Hardelin

    出版 2008
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  4. 4
    Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS)

    Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS) 由 S Jacobelli, M. Andre, Johnston Alexandra, Catherine Dodé, T. Papo

    出版 2006
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  5. 5
    Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

    Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene 由 N. Ravet, S. Rouaghe, Catherine Dodé, J. Bienvenu, Jérôme Stirnemann, Pierre Lévy, Marc Delpech, G Grateau

    出版 2006
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  6. 6
    Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

    Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice 由 Séverine Marcos, Carine Monnier, Xavier Rovira, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean‐Pierre Hardelin

    出版 2017
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  7. 7
    Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

    Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions 由 Luís Teixeira, Fabien Guimiot, Catherine Dodé, Catherine Fallet‐Bianco, Robert P. Millar, Anne‐Lise Delezoide, Jean‐Pierre Hardelin

    出版 2010
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  8. 8
    PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

    PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity 由 Carine Monnier, Catherine Dodé, Ludovic Fabre, Luís Teixeira, Gilles Labesse, Jean‐Philippe Pin, Jean‐Pierre Hardelin, Philippe Rondard

    出版 2008
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  9. 9
    X Chromosome-Linked Kallmann Syndrome: Clinical Heterogeneity in Three Siblings Carrying an Intragenic Deletion of the<i>KAL-1</i>Gene

    X Chromosome-Linked Kallmann Syndrome: Clinical Heterogeneity in Three Siblings Carrying an Intragenic Deletion of the<i>KAL-1</i>Gene 由 Nathalie Massin, Christophe Pécheux, Corinne Eloit, Jean-Louis Bensimon, Julie Galey, Frédérique Kuttenn, Jean‐Pierre Hardelin, Catherine Dodé, Philippe Touraine

    出版 2003
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  10. 10
    Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations

    Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations 由 Sylvie Salenave, Philippe Chanson, H. Bry, Michel Pugeat, Sylvie Cabrol, Jean‐Claude Carel, Arnaud Murat, Pierre Lecomte, Sylvie Brailly, Jean‐Pierre Hardelin, Catherine Dodé, Jacques Young

    出版 2007
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  11. 11
    Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

    Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency 由 Sarah Eskenazi, Anne Bachelot, Justine Hugon‐Rodin, Geneviève Plu‐Bureau, Anne Gompel, Sophie Catteau-Jonard, Denise Molina‐Gomes, Didier Dewailly, Catherine Dodé, Sophie Christin‐Maître, Philippe Touraine

    出版 2021
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  12. 12
    MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications

    MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic... 由 Cécile Cazeneuve, Tamara Sarkisian, Christophe Pécheux, M Dervichian, Brigitte Nédelec, Philippe Reinert, A. Ayvazyan, Jean‐Claude Kouyoumdjian, Hasmik Ajrapetyan, Marc Delpech, Michel Goossens, Catherine Dodé, Gilles Grateau, Serge Amselem

    出版 1999
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  13. 13
    New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression

    New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression 由 Justine Bouilly, Florence Roucher‐Boulez, Anne Gompel, Hélène Bry‐Gauillard, K. Azibi, Chérif Beldjord, Catherine Dodé, Jérôme Bouligand, A. Mantel, A.C. Hécart, Brigitte Delemer, Jacques Young, Nadine Binart

    出版 2014
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  14. 14
    Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

    Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency 由 Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, K. Azibi, Jérôme Fagart, Anne Fèvre, Anne‐Laure Todeschini, Reiner A. Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart

    出版 2016
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  15. 15
    Impaired FGF signaling contributes to cleft lip and palate

    Impaired FGF signaling contributes to cleft lip and palate 由 Bridget Riley‐Gillis, M. Adela Mansilla, Jinghong Ma, Sandra Daack‐Hirsch, Brion S. Maher, Lisa M. Raffensperger, Erilynn T. Russo, Alexandre R. Vieira, Catherine Dodé, Moosa Mohammadi, Mary L. Marazita, Jeffrey C. Murray

    出版 2007
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  16. 16
    Infevers: An evolving mutation database for auto-inflammatory syndromes

    Infevers: An evolving mutation database for auto-inflammatory syndromes 由 Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal M. Hoffman, Catherine Dodé, Nitza G. Shoham, Ebun Aganna, Jean‐Pierre Hugot, Carol A. Wise, Hans R. Waterham, D. Pugnére, Jacques Demaille, Cyril Sarrauste de Menthière

    出版 2004
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  17. 17
    European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

    European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment 由 Ulrich Boehm, Pierre-Marc Bouloux, Mehul Dattani, Nicolás de Roux, Catherine Dodé, Leo Dunkel, Andrew Dwyer, Paolo Giacobini, Jean-Pierre Hardelin, Anders Juul, Mohamad Maghnie, Nelly Pitteloud, Vincent Prévot, Taneli Raivio, Manuel Tena‐Sempere, Richard Quinton, Jacques Young

    出版 2015
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  18. 18
    Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

    Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2 由 Catherine Dodé, Luís Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Sławomir Wołczyński, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin

    出版 2006
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  19. 19
    New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

    New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes 由 Catherine Dodé, Nathalie Le Dû, Laurence Cuisset, Frank Letourneur, Jean‐Marie Berthelot, G Vaudour, A Meyrier, Richard A. Watts, G.I. David Scott, Anne Nicholls, B. Granel, Camille Françès, F Garcier, Patrick Edery, S. Boulinguez, Jean-Paul Domergues, Marc Delpech, Gilles Grateau

    出版 2002
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  20. 20
    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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