Found: 4

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  • Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
    By:
    • El Chehadeh-Djebbar, Salima;
    • Blair, Edward;
    • Holder-Espinasse, Muriel;
    • Moncla, Anne;
    • Frances, Anne-Marie;
    • Rio, Marlène;
    • Debray, François-Guillaume;
    • Rump, Patrick;
    • Masurel-Paulet, Alice;
    • Gigot, Nadège;
    • Callier, Patrick;
    • Duplomb, Laurence;
    • Aral, Bernard;
    • Huet, Frédéric;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence
    Publication type:
    Article

  • Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366
    By:
    • Limoge, Floriane;
    • Faivre, Laurence;
    • Gautier, Thomas;
    • Petit, Jean-Michel;
    • Gautier, Elodie;
    • Masson, David;
    • Jego, Gaëtan;
    • El Chehadeh-Djebbar, Salima;
    • Marle, Nathalie;
    • Carmignac, Virginie;
    • Deckert, Valérie;
    • Brindisi, Marie-Claude;
    • Edery, Patrick;
    • Ghoumid, Jamal;
    • Blair, Edward;
    • Lagrost, Laurent;
    • Thauvin-Robinet, Christel;
    • Duplomb, Laurence
    Publication type:
    Article

  • Cohen syndrome is associated with major glycosylation defects.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
    By:
    • Duplomb, Laurence;
    • Duvet, Sandrine;
    • Picot, Damien;
    • Jego, Gaëtan;
    • El Chehadeh-Djebbar, Salima;
    • Marle, Nathalie;
    • Gigot, Nadège;
    • Aral, Bernard;
    • Carmignac, Virginie;
    • Thevenon, Julien;
    • Lopez, Estelle;
    • Rivière, Jean-Baptiste;
    • Klein, André;
    • Philippe, Christophe;
    • Droin, Nathalie;
    • Blair, Edward;
    • Girodon, François;
    • Donadieu, Jean;
    • Bellanné-Chantelot, Christine;
    • Delva, Laurent
    Publication type:
    Article

  • Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

    Published in:
    Journal of Molecular Medicine, 2019, v. 97, n. 5, p. 633, doi. 10.1007/s00109-019-01754-4
    By:
    • Duplomb, Laurence;
    • Rivière, Julie;
    • Jego, Gaëtan;
    • Da Costa, Romain;
    • Hammann, Arlette;
    • Racine, Jessica;
    • Schmitt, Alain;
    • Droin, Nathalie;
    • Capron, Claude;
    • Gougerot-Pocidalo, Marie-Anne;
    • Dubrez, Laurence;
    • Aral, Bernard;
    • Lafon, Arnaud;
    • Edery, Patrick;
    • Ghoumid, Jamal;
    • Blair, Edward;
    • El Chehadeh-Djebbar, Salima;
    • Carmignac, Virginie;
    • Thevenon, Julien;
    • Guy, Julien
    Publication type:
    Article