Søgeresultater - Bertrand Boisson

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  1. 1
    Unexpected Protein Families Including Cell Defense Components Feature in the N-Myristoylome of a Higher Eukaryote

    Unexpected Protein Families Including Cell Defense Components Feature in the N-Myristoylome of a Higher Eukaryote af Bertrand Boisson, Carmela Giglione, Thierry Meinnel

    Udgivet 2003
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  2. 2
    Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

    Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind af Bertrand Boisson, Pierre Quartier, Jean‐Laurent Casanova

    Udgivet 2015
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  3. 3
    Genetics and clinical phenotypes in common variable immunodeficiency

    Genetics and clinical phenotypes in common variable immunodeficiency af Charlotte Cunningham‐Rundles, Jean‐Laurent Casanova, Bertrand Boisson

    Udgivet 2024
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  4. 4
    Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

    Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency af Bertrand Boisson, Anne Puel, Capucine Pïcard, Jean‐Laurent Casanova

    Udgivet 2017
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  5. 5
    Identification of eukaryotic peptide deformylases reveals universality of N-terminal protein processing mechanisms

    Identification of eukaryotic peptide deformylases reveals universality of N-terminal protein processing mechanisms af Carmela Giglione, Alexandre Serero, M. Pierre, Bertrand Boisson, Thierry Meinnel

    Udgivet 2000
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  6. 6
    Human hyper-IgE syndrome: singular or plural?

    Human hyper-IgE syndrome: singular or plural? af Qian Zhang, Bertrand Boisson, Vivien Béziat, Anne Puel, Jean‐Laurent Casanova

    Udgivet 2018
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  7. 7
    Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

    Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency af Patrick Maffucci, Charles A. Filion, Bertrand Boisson, Yuval Itan, Lei Shang, Jean‐Laurent Casanova, Charlotte Cunningham‐Rundles

    Udgivet 2016
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  8. 8
    Carboxypeptidases B of <i>Anopheles gambiae</i> as Targets for a <i>Plasmodium falciparum</i> Transmission-Blocking Vaccine

    Carboxypeptidases B of <i>Anopheles gambiae</i> as Targets for a <i>Plasmodium falciparum</i> Transmission-Blocking Vaccine af Catherine Lavazec, Christian Boudin, Renaud Lacroix, Sarah Bonnet, Abdoulaye Diop, Sabine Thiberge, Bertrand Boisson, Rachida Tahar, Catherine Bourgouin

    Udgivet 2007
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  9. 9
    PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

    PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations af Peng Zhang, Benedetta Bigio, Franck Rapaport, Shen‐Ying Zhang, Jean‐Laurent Casanova, Laurent Abel, Bertrand Boisson, Yuval Itan

    Udgivet 2018
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  10. 10
    TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO–IKK supramolecular structures

    TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO–IKK supramolecular structures af Nadine Tarantino, Jean-Yves Tinévez, Elizabeth Faris Crowell, Bertrand Boisson, Ricardo Henriques, Musa M. Mhlanga, Fabrice Agou, Alain Israël, Emmanuel Laplantine

    Udgivet 2014
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  11. 11
    A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells

    A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells af Bertrand Boisson, Yong‐Dong Wang, Amma Bosompem, S. Cindy, Apiradee Lim, Tatiana Kochetkov, Stuart G. Tangye, Jean‐Laurent Casanova, Mary Ellen Conley

    Udgivet 2013
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  12. 12
    Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

    Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants af Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B. Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean‐Laurent Casanova, Laurent Abel

    Udgivet 2015
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  13. 13
    Host Cell Traversal Is Important for Progression of the Malaria Parasite through the Dermis to the Liver

    Host Cell Traversal Is Important for Progression of the Malaria Parasite through the Dermis to the Liver af Rogério Amino, Donatella Giovannini, Sabine Thiberge, Pascale Gueirard, Bertrand Boisson, Jean‐François Dubremetz, Marie‐Christine Prévost, Tomoko Ishino, Masao Yuda, Robert Ménard

    Udgivet 2008
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  14. 14
    Clonal Conditional Mutagenesis in Malaria Parasites

    Clonal Conditional Mutagenesis in Malaria Parasites af Audrey Combe, Donatella Giovannini, Teresa G. Carvalho, Stephan S. Späth, Bertrand Boisson, Céline Loussert-Fonta, Sabine Thiberge, Céline Lacroix, Pascale Gueirard, Robert Ménard

    Udgivet 2009
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  15. 15
    LISP1 is important for the egress of<i>Plasmodium berghei</i>parasites from liver cells

    LISP1 is important for the egress of<i>Plasmodium berghei</i>parasites from liver cells af Tomoko Ishino, Bertrand Boisson, Yuki Orito, Céline Lacroix, Emmanuel Bischoff, Céline Loussert-Fonta, Chris J. Janse, Robert Ménard, Masao Yuda, Patricia Baldacci

    Udgivet 2009
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  16. 16
    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance af Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschké, Lluı́s Quintana-Murci, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova

    Udgivet 2014
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  17. 17
    An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

    An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis af Bertrand Boisson, Chenhui Wang, Vincent Pedergnana, Ling Wu, Sophie Cypowyj, M. Rybojad, Aziz Belkadi, Capucine Pïcard, Laurent Abel, Claire Fieschi, Anne Puel, Xiaoxia Li, Jean‐Laurent Casanova

    Udgivet 2013
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  18. 18
    Exome and genome sequencing for inborn errors of immunity

    Exome and genome sequencing for inborn errors of immunity af Isabelle Meyts, Barbara Bosch, Alexandre Bolze, Bertrand Boisson, Yuval Itan, Aziz Belkadi, Vincent Pedergnana, Leen Moens, Capucine Pïcard, Aurélie Cobat, Xavier Bossuyt, Laurent Abel, Jean‐Laurent Casanova

    Udgivet 2016
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  19. 19
    Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

    Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma af Minji Byun, Avinash Abhyankar, Virginie Lelarge, Sabine Plancoulaine, Ayşe Palandüz, Leyla Telhan, Bertrand Boisson, Capucine Pïcard, Scott Dewell, Connie Zhao, Emmanuelle Jouanguy, Stefan Feske, Laurent Abel, Jean‐Laurent Casanova

    Udgivet 2010
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  20. 20
    Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

    Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery af Eric Scott, Anason Halees, Yuval Itan, Emily Spencer, Yupeng He, Mostafa Abdellateef Azab, Stacey Gabriel, Aziz Belkadi, Bertrand Boisson, Laurent Abel, Andrew G. Clark, Fowzan S. Alkuraya, Jean‐Laurent Casanova, Joseph G. Gleeson

    Udgivet 2016
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