Výsledky vyhledávání - Marcin Szynkiewicz

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  1. 1
    Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus

    Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus Autor Jane Ravenscroft, Mohnish Suri, Gillian Rice, Marcin Szynkiewicz, Yanick J. Crow

    Vydáno 2010
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  2. 2
    Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

    Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis Autor Venkateswaran Ramesh, Bruno De Bernardi, A. Stafa, Caterina Garone, Emilio Franzoni, Mario Abinun, Patrick Mitchell, Dipayan Mitra, Mark Friswell, John W. Nelson, Stavit A. Shalev, Gillian Rice, Hannah Gornall, Marcin Szynkiewicz, FRANÇOIS AYMARD, Vijeya Ganesan, Julie Prendiville, John H. Livingston, Yanick J. Crow

    Vydáno 2010
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  3. 3
    Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

    Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation Autor Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter, Anne‐Perrine Foray, Anne‐Laure Debaud, Gillian Rice, Marcin Szynkiewicz, M. T. Zabot, Isabelle Rouvet, Sanjeev S. Bhaskar, Sarah B. Daly, Jonathan E. Dickerson, Joséphine Mayer, James O’Sullivan, Laurent Juillard, Jill Urquhart, Shameem Fawdar, Anna A. Marusiak, Natalie L. Stephenson, Bohdan Waszkowycz, Michael W. Beresford, Leslie G. Biesecker, Graeme Black, Céline René, Jean‐François Eliaou, Nicole Fabien, Bruno Ranchin, Pierre Cochat, Patrick M. Gaffney, Flore Rozenberg, Pierre Lebon, Christophe Malcus, Yanick J. Crow, John Brognard, Nathalie Bonnefoy

    Vydáno 2013
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  4. 4
    Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

    Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature Autor Tracy A. Briggs, Gillian Rice, Sarah B. Daly, Jill Urquhart, Hannah Gornall, Brigitte Bader‐Meunier, Kannan Baskar, Shankar Baskar, Véronique Baudouin, Michael W. Beresford, Graeme Black, Rebecca J. Dearman, Francis de Zegher, Emily Foster, Camille Françès, Alison R. Hayman, Emma Hilton, C Job-Deslandre, Muralidhar L. Kulkarni, Martine Le Merrer, Agnès Linglart, Simon C. Lovell, Kathrin Maurer, Lucile Musset, Vincent Navarro, Capucine Pïcard, Anne Puel, Frédéric Rieux‐Laucat, Chaim M. Roifman, Sabine Scholl‐Bürgi, Nigel Smith, Marcin Szynkiewicz, Alice Wiedeman, Carine Wouters, Leo Zeef, Jean‐Laurent Casanova, Keith B. Elkon, Anthony J. Janckila, Pierre Lebon, Yanick J. Crow

    Vydáno 2011
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  5. 5
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study Autor Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    Vydáno 2013
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  6. 6
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Autor Gillian Rice, Paul R. Kasher, Gabriella Forte, Niamh Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E. Dickerson, Sanjeev S. Bhaskar, Massimiliano Zampini, Tracy A. Briggs, Emma M. Jenkinson, Carlos A. Bacino, Roberta Battini, Enrico Bertini, Paul Brogan, Louise Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del Toro, Isabelle Desguerre, Elisa Fazzi, Àngels García‐Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean‐Pierre Lin, Charles Marques Lourenço, Alison Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A. Robinson, Flore Rozenberg, Johanna Schmidt, Katharina Steindl, Tiong Yang Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H. Livingston, Pierre Lebon, Tamio Suzuki, Paul McLaughlin, Liam P. Keegan, Mary A. O’Connell, Simon C. Lovell, Yanick J. Crow

    Vydáno 2012
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  7. 7
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... Autor Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    Vydáno 2015
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