نتائج البحث - Tracy A. Briggs
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Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease حسب Gillian Rice, Isabelle Melki, Marie‐Louise Frémond, Tracy A. Briggs, Mathieu P. Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader‐Meunier, Alexandre Bélot, Christine Bodemer, Pierre Quartier, Yanick J. Crow
منشور في 2016Artigo -
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Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes حسب A.‐C. Bursztejn, Tracy A. Briggs, Yoandris del Toro Duany, Bryan Anderson, James O’Sullivan, Simon G. Williams, Christine Bodemer, Sylvie Fraïtag, Florian Gebhard, Bruno Leheup, I. Lemelle, Anthony Oojageer, Emmanuel Raffo, Emmanuelle Schmitt, Gillian Rice, Sun Hur, Yanick J. Crow
منشور في 2015Artigo -
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Tartrate‐Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus حسب Jie An, Tracy A. Briggs, Audrey F. Dumax-Vorzet, Marta E. Alarcón‐Riquelme, Alexandre Bélot, Michael W. Beresford, Ian N Bruce, Cláudia Carvalho, Laurence Chaperot, Johan Frostegård, Joël Plumas, Gillian Rice, Timothy J. Vyse, Alice Wiedeman, Yanick J. Crow, Keith B. Elkon
منشور في 2016Artigo -
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Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation حسب Emmanuel Martin, Norbert Minet, Anne‐Claire Boschat, Sylvia Sanquer, Steicy Sobrino, Christelle Lenoir, Jean‐Pierre de Villartay, Maria Leite‐de‐Moraes, Capucine Pïcard, Claire Soudais, Tim Bourne, Sophie Hambleton, Stephen Hughes, Robert Wynn, Tracy A. Briggs, Smita Y. Patel, Monica G. Lawrence, Alain Fischer, Peter D. Arkwright, Sylvain Latour
منشور في 2020Artigo -
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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) حسب Tracy A. Briggs, Ghada M. H. Abdel‐Salam, Maryagnes R. Balicki, Peter Baxter, Enrico Bertini, Nick Bishop, B H Browne, David Chitayat, W.K. Chong, Maha M. Eid, William Halliday, Imelda Hughes, A. Klusmann‐Koy, Mary Kurian, Ken K. Nischal, Gillian Rice, John B.P. Stephenson, R. Surtees, J F Talbot, Nasrin Tehrani, John Tolmie, Carmel Toomes, Marjo S. van der Knaap, Yanick J. Crow
منشور في 2007Artigo -
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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey حسب Tracy A. Briggs, Gillian Rice, Navid Adib, Lesley C. Adès, Stéphane Barète, Kannan Baskar, Véronique Baudouin, Ayşe Nurcan Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Güven, Sebastien Héritier, Daniela Karall, Muralidhar L. Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnès Linglart, John H. Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revençu, Sabine Scholl‐Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow
منشور في 2016Artigo -
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Detection of interferon alpha protein reveals differential levels and cellular sources in disease حسب Mathieu P. Rodero, Jérémie Decalf, Vincent Bondet, David Hunt, Gillian Rice, Scott Werneke, Sarah McGlasson, Marie‐Alexandra Alyanakian, Brigitte Bader‐Meunier, Christine Barnérias, N. Bellon, Alexandre Bélot, Christine Bodemer, Tracy A. Briggs, Isabelle Desguerre, Marie‐Louise Frémond, Marie Hully, Arn M. J. M. van den Maagdenberg, Isabelle Melki, Isabelle Meyts, Lucile Musset, Nadine Pelzer, Pierre Quartier, Gisela M. Terwindt, Joanna M. Wardlaw, Stewart Wiseman, Frédéric Rieux‐Laucat, Y Rose, Bénédicte Neven, Christina Hertel, Adrian Hayday, Matthew L. Albert, Flore Rozenberg, Yanick J. Crow, Darragh Duffy
منشور في 2017Artigo -
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Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i> حسب C.J. Duncan, Benjamin Thompson, Rui Chen, Gillian Rice, Florian Gothe, D. F. Young, Simon C. Lovell, Victoria G. Shuttleworth, Vicky Brocklebank, Bronte M. Corner, Andrew Skelton, Vincent Bondet, Jonathan Coxhead, Darragh Duffy, Cécile Fourrage, John H. Livingston, Julija Pavaine, Edmund Cheesman, Stephania Bitetti, Angela Grainger, Meghan Acres, Barbara A. Innes, Aneta Mikulášová, Ruyue Sun, Rafiqul Hussain, Ronnie Wright, Robert Wynn, Mohammed Zarhrate, Leo Zeef, Katrina Wood, Stephen Hughes, Claire L. Harris, Karin R. Engelhardt, Yanick J. Crow, Richard E. Randall, David Kavanagh, Sophie Hambleton, Tracy A. Briggs
منشور في 2019Artigo -
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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature حسب 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
منشور في 2011Artigo -
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response حسب Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise Brueton, Peter Corry, Isabelle Desguerre, Elisa Fazzi, Àngels García Cazorla, Blanca Gener, Ben C.J. Hamel, Arvid Heiberg, Matthew F. Hunter, Marjo S. van der Knaap, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Daphna Marom, Michael McDermott, William van der Merwe, Simona Orcesi, Julie Prendiville, Magnhild Rasmussen, Stavit A. Shalev, Doriette Soler, Marwan Shinawi, Ronen Spiegel, Tiong Yang Tan, Adeline Vanderver, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B. Stetson, David T. Bonthron, Yanick J. Crow
منشور في 2009Artigo -
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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease حسب Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow
منشور في 2017Artigo -
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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature حسب 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
منشور في 2012Artigo -
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease حسب Batsukh Dorjbal, Jeffrey R. Stinson, Chi A., Michael Weinreich, Bahar Miraghazadeh, Julia Maria Hartberger, Stefanie Frey-Jakobs, Stephan Weidinger, Lena Moebus, André Franke, Alejandro A. Schäffer, Alla Bulashevska, Sebastian Fuchs, Stephan Ehl, Sandhya Limaye, Peter D. Arkwright, Tracy A. Briggs, Claire Langley, Claire Bethune, Andrew Whyte, Hana Alachkar, Sergey Nejentsev, Thomas DiMaggio, Celeste Nelson, Kelly D. Stone, Martha Nason, Erica Brittain, Andrew J. Oler, Daniel Veltri, Timothy Ronan Leahy, Niall Conlon, M. Cecilia Poli, Arturo Borzutzky, Jeffrey I. Cohen, Joie Davis, Michele P. Lambert, Neil Romberg, Kathleen E. Sullivan, Kenneth Paris, Alexandra F. Freeman, Laura Lucas, Shanmuganathan Chandrakasan, Sinisa Savic, Sophie Hambleton, Smita Y. Patel, Michael B. Jordan, Amy Theos, Jeffrey D. Lebensburger, T. Prescott Atkinson, Troy R. Torgerson, Iván K. Chinn, Joshua D. Milner, Bodo Grimbacher, Matthew Cook, Andrew L. Snow
منشور في 2018Artigo -
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function حسب Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow
منشور في 2020Artigo -
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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts حسب Alexandre Bélot, Gillian Rice, Ommar Omarjee, Quentin Rouchon, Eve Smith, Marion Moreews, Maud Tusseau, Cécile Frachette, Raphael Bournhonesque, Nicole M. Thielens, Christine Gaboriaud, Isabelle Rouvet, Emilie Chopin, Akihiro Hoshino, Sylvain Latour, Bruno Ranchin, Rolando Cimaz, Paula Romagnani, Christophe Malcus, Nicole Fabien, Marie-Nathalie Kolopp Sarda, Behrouz Kassaï, Jean‐Christophe Lega, Stéphane Decramer, Pauline Abou-Jaoudé, Ian N Bruce, Thomas Simonet, Claire Bardel, Pierre Antoine Rollat‐Farnier, Sébastien Viel, Héloïse Reumaux, James O’Sullivan, Thierry Walzer, Anne‐Laure Mathieu, Gaëlle Marenne, Thomas Ludwig, Emmanuelle Génin, Jamie M. Ellingford, Brigitte Bader-Meunier, Tracy A. Briggs, Michael W. Beresford, Yanick J. Crow, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Emmanuelle Génin, Jean‐Charles Lambert, Richard Redon, Emma Allain-Launay, Brigitte Bader‐Meunier, Alexandre Bélot, Kenza Bouayed, Stéphane Burtey, Aurélia Carbasse, Stéphane Decramer, V. Despert, O. Fain, Michel Fischbach, Hugues Flodrops, Caroline Galeotti, Eric Hachulla, Yves Hatchuel, J.F. Kleinmann, Isabelle Koné‐Paut, Aurélia Lanteri, I. Lemelle, Hélène Maillard, François Maurier, Ulrich Meinzer, Isabelle Melki, S. Morell‐Dubois, Anne Pagnier, Maryam Piram, Bruno Ranchin, Héloïse Reumaux, Charlotte Samaille, Jean Sibilia, Olivia Weill, Eslam Al-Abadi, Kate Armon, Kathryn Bailey, Michael W. Beresford, Mary Brennan, Coziana Ciurtin, Janet Gardner‐Medwin, Kirsty Haslam, Daniel Hawley, Alice Leahy, Valentina Leone, Devesh Mewar, Rob Moots, Clarissa Pilkington, Athimalaipet V Ramanan, Satyapal Rangaraj, Annie Ratcliffe, Philip Riley, Ethan S. Sen, Arani Sridhar, Nick Wilkinson, Fiona Wood
منشور في 2020Artigo -
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome حسب Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, M.R. Smith, Alexandre F. Carisey, Alexander Vargas‐Hernández, Manuel Silva‐Carmona, Maximilian Heeg, Anne Rensing‐Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham‐Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Özen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini‐Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric J. Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John F. Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, M. Rees, Helen C. Su, Sami L. Bahna, Safa Barış, Lisa M. Bartnikas, Amy Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew Cook, Mukesh Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, A. Gauthier, Andrew R. Gennery, José Gonçalo Marques, F. Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen‐Kosma, Hal M. Hoffman, Luis Ignacio González‐Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj Patel, Tamara C. Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Dinur Schejter, Christine M. Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich
منشور في 2022Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Medicine
Immunology
Disease
Internal medicine
Interferon
Mutation
Phenotype
Antibody
Autoimmunity
Immune system
Cancer research
Genotype
Interferon type I
Pathology
Autoimmune disease
Biochemistry
Pathogenesis
RNA
Systemic lupus erythematosus
Acid phosphatase
Allele
Cohort
Compound heterozygosity
Context (archaeology)
Coronavirus disease 2019 (COVID-19)
Endocrinology
Enzyme