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1801 results found for your search

  • Salma Kotti
    Service de recherche clinique
    Salma Kotti
  • Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

    Geneviève de Saint Basile, Alain Fischer, Fernando Sepulveda , Frédéric Guérin

    Source :

    Front Immunol

    2019 Dec 7

    Pmid / DOI:

    31787977

  • Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

    Geneviève de Saint Basile, Fernando Sepulveda

    Source :

    Proc. Natl. Acad. Sci. U.S.A.

    2019 Mar 12

    Pmid / DOI:

    30591564

  • Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.

    Fernando Sepulveda , Geneviève de Saint Basile

    Source :

    Cell Mol Gastroenterol Hepatol

    2019 Apr 29

    Pmid / DOI:

    30364784

  • Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

    Isabelle André, Marina Cavazzana, Geneviève de Saint Basile, Fernando Sepulveda

    Source :

    Blood Adv

    2019 Nov 20

    Pmid / DOI:

    29296930

  • Hemophagocytic syndrome: primary forms and predisposing conditions.

    Fernando Sepulveda , Geneviève de Saint Basile

    Source :

    Curr. Opin. Immunol.

    2018 Jul 2

    Pmid / DOI:

    28866302

  • A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.

    Gaël Ménasché, Geneviève de Saint Basile, Alain Fischer, Fernando Sepulveda

    Source :

    Hum. Mutat.

    2018 May 10

    Pmid / DOI:

    28585352

  • Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

    Fernando Sepulveda , Geneviève de Saint Basile, Alain Fischer

    Source :

    Blood

    2017 Jul 27

    Pmid / DOI:

    27222478

  • Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.

    Gaël Ménasché, Geneviève de Saint Basile, Mathieu Kurowska, Alain Fischer

    Source :

    Arterioscler. Thromb. Vasc. Biol.

    2019 Jul 8

    Pmid / DOI:

    29519941

  • Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex.

    Gaël Ménasché, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile

    Source :

    J. Cell Biol.

    2017 Jun 1

    Pmid / DOI:

    27810912

  • Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex.

    Gaël Ménasché, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile

    Source :

    Blood

    2012 Jul 12

    Pmid / DOI:

    22308290

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