Risultati della ricerca - Catherine Naud-Saudreau

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  1. 1
    Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

    Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation di Patrick Aubourg, Stéphane Blanche, Isabelle Jambaqué, F. Rocchiccioli, G. Kalifa, Catherine Naud-Saudreau, Marie-Odile Rolland, Mariane Debré, Jean‐Louis Chaussain, C Griscelli, Alain Fischer, Pierre-François Bougnères

    Pubblicazione 1990
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  2. 2
    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib di Stéphanie Maupetit‐Mehouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, François Feillet, Jean‐Claude Carel, D. Simon, H. Bihan, Vincent Gajdos, Eglantine Ferrand Devouge, S. Shenoy, P. Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart

    Pubblicazione 2010
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  3. 3
    NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects

    NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects di Florence Roucher‐Boulez, Delphine Mallet-Motak, Dinane Samara‐Boustani, Houweyda Jilani, Asmahane Ladjouze, Pierre‐François Souchon, Dominique Simon, Sylvie Nivot, Claudine Heinrichs, Maryline Ronze, Xavier Bertagna, L. Groisne, Bruno Leheup, Catherine Naud-Saudreau, G Blondin, Christine Lefèvre, Laetitia Lemarchand, Yves Morel

    Pubblicazione 2016
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  4. 4
    Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

    Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up? di Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc de Kerdanet, Capucine Hyon, Blandine Esteva, Dinane Samara‐Boustani, Delphine Zénaty, Marc Nicolino, S. Baron, Chantal Metz-Blond, Catherine Naud-Saudreau, Clémentine Dupuis, Juliane Léger, Jean‐Pierre Siffroi, Bruno Donadille, Sophie Christin‐Maître, Jean‐Claude Carel, R. Coutant, Lætitia Martinerie

    Pubblicazione 2018
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  5. 5
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome di Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    Pubblicazione 2018
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