检索结果 - Estelle Talouarn

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  1. 1
    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus

    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus 由 C. David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian Rice, Blaise Didry‐Barca, L. Maisonneuve, Luís Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, C. Paul, G. R. Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader‐Meunier, Joseph A. Marsh, Jean‐Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie‐Louise Frémond, Jonathan Bohlen, Alice Lepelley

    出版 2024
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  2. 2
    Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

    Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children 由 Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Rémi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordán, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurélie Bisiaux, Wei‐Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilgüvar, Shrikant Mane, Carlos Flores, Yu Zhang, Andrés A. Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada‐Vélez, Francesca Pala, Tomi Lazarov, Romain Lévy, Anna‐Lena Neehus, Jérémie Rosain, Jessica N. Peel, Yi‐Hao Chan, Marie‐Paule Morin, Rosa Pino, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victòria Fumadó, Marta L. DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez‐Tur, Shuibing Chen, Todd Evans, Frédéric Geissmann, Pierre Lebon, Susan R. Weiss, Damien Bonnet, Xavier Duval, Qiang Pan‐Hammarström, Anna M. Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Vanessa Sancho‐Shimizu, Clifford L. Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi D. Notarangelo, Vivien Béziat, Rebeca Pérez de Diego, Carlos Rodríguez‐Gallego, Helen C. Su, Richard P. Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keleş, Élie Haddad, Laurent Abel, Alexandre Bélot, Lluı́s Quintana-Murci, Charles M. Rice, Robert H. Silverman

    出版 2022
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  3. 3
    X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

    X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 由 Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilgüvar, Yu Zhang, Anna‐Lena Neehus, Masato Ogishi, Simon J. Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler‐Palacín, Roger Colobrán, Andrea Martín-Nalda, Jacques G. Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabıyık, Tayfun Özçelık, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, José Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G. Bustos, Andrés A. Arias, Guillaume Morelle, Christèle Kyheng, Jesús Troya, Laura Planas‐Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luís M. Allende, Carlos Rodríguez‐Gallego, Carlos Flores, Óscar Cabrera-Marante, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keleş, Gökhan Aytekіn, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, Smith Rjh, Anna-Carin Norlin, Tessa M. Campbell, Laura Covill, Lennart Hammarström, Qiang Pan‐Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan, Clifton L. Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert L. Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Shen‐Ying Zhang, Vivien Béziat, Richard P. Lifton, Paul Bastard, Luigi D. Notarangelo, Laurent Abel

    出版 2021
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  4. 4
    Human genetic and immunological determinants of critical COVID-19 pneumonia

    Human genetic and immunological determinants of critical COVID-19 pneumonia 由 Qian Zhang, Paul Bastard, Adem Karbuz, Adrian Gervais, Ahmad Abou Tayoun, Alessandro Aiuti, Alexandre Bélot, Alexandre Bolze, Alexandre Gaudet, Анастасія Бондаренко, Zhiyong Liu, András N. Spaan, Andrea Guennoun, Andrés A. Arias, Anna M. Planas, Anna Šedivá, Anna Shcherbina, Anna‐Lena Neehus, Anne Puel, Antoine Froidure, Antonio Novelli, Aslınur Özkaya Parlakay, Aurora Pujol, Aysun Yahşi, Belgi̇n Gülhan, Benedetta Bigio, Bertrand Boisson, Beth A. Drolet, Carlos A. Arango-Franco, Carlos Flores, Carlos Rodríguez‐Gallego, Carolina Prando, Catherine M. Biggs, Charles‐Édouard Luyt, Clifton L. Dalgard, Cliona O’Farrelly, Daniela Matuozzo, David Dalmau, David S. Perlin, Davood Mansouri, Diederik van de Beek, Donald C. Vinh, Elena Domínguez‐Garrido, Elena W.Y. Hsieh, Emine Hafize Erdeniz, Emmanuelle Jouanguy, Esra Şevketoğlu, Estelle Talouarn, Eugenia Quirós-Roldán, Evangelos Andreakos, Eystein S. Husebye, Fahad Alsohime, Filomeen Haerynck, Giorgio Casari, Giuseppe Novelli, Gökhan Aytekіn, Guillaume Morelle, Gülsüm Alkan, Gülsüm İclal Bayhan, Hagit Baris Feldman, Helen C. Su, Horst von Bernuth, Igor Resnick, Ingrid G. Bustos, Isabelle Meyts, Isabelle Migeotte, Ivan Tancevski, Jacinta Bustamante, Jacques Fellay, Jamila El Baghdadi, Javier Martínez‐Picado, Jean‐Laurent Casanova, Jérémie Rosain, Jérémy Manry, Jie Chen, John Christodoulou, Jonathan Bohlen, José Luis Franco, Juan Li, Juan‐Manuel Anaya, Julián Rojas, YE Junqiang, K. M. Furkan Uddin, Kadriye Kart Yaşar, Kai Kisand, Keisuke Okamoto, Khalil Chaïbi, Kristina Mironska, László Maródi, Laurent Abel, Laurent Rénia, Lazaro Lorenzo, Lennart Hammarström, Lisa F. P. Ng, Lluís Quintana‐Murci, Lucía Victoria Erazo-Borrás, Luigi D. Notarangelo, Luis Felipe Reyes, Luís M. Allende, Luisa Imberti

    出版 2022
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  5. 5
    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 由 Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Peng Zhang, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luís M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean‐François Deleuze, Robert L. Nussbaum

    出版 2022
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  6. 6
    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 由 Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud

    出版 2023
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  7. 7
    Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 由 Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luís M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud

    出版 2024
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  8. 8
    Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 由 Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luís M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud

    出版 2023
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  9. 9
    Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

    Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C) 由 Evangelos Bellos, David Santillo, Pierre Vantourout, Heather Jackson, Amédine Duret, Henry J. Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel J. Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria Wright, Diego Estrada‐Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antônio Condino‐Neto, YL Lau, Esmeralda Núñez Cuadros, Julie Toubiana, M.S. Holanda Peña, Frédéric Rieux‐Laucat, Charles‐Édouard Luyt, Filomeen Haerynck, Jean‐Louis Mège, Samya Chakravorty, Élie Haddad, Marie‐Paule Morin, Özge Metin Akcan, Sevgi Keleş, Melike Emiroğlu, Gülsüm Alkan, Şadiye Kübra Tüter Öz, Şefika Elmas Bozdemir, Guillaume Morelle, Алла Волоха, Yasemin Kendir Demirkol, Betül Sözeri, Taner Çoşkuner, Aysun Yahşi, Belgi̇n Gülhan, Saliha Kanık Yüksek, Gülsüm İclal Bayhan, Aslınur Özkaya Parlakay, Osman Yeşilbaş, Nevin Hatipoğlu, Tayfun Özçelık, Alexandre Bélot, Emilie Chopin, Vincent Barlogis, Esra Şevketoğlu, Mehmet Emin Menentoğlu, Zeynep Gökçe Gayretli Aydın, Markéta Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskyy, Анастасія Бондаренко, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, Alessandro Aiuti, Laia Alsina, Evangelos Andreakos, Ana de Andrés Martín, Catherine M. Biggs, A. Borghesi, Amed Aziz Bousfiha, Daniel Blázquez‐Gamero, Petter Brodin, Giorgio Casari, Antônio Condino‐Neto, Jacques Fellay, Carlos Flores, Guy Gorochov, Emine Hafize Erdeniz, Lennart Hammarström, Y. García, Adem Karbuz, Adam Klocperk, Paloma Lapuente-Suanzes, YL Lau, C.-B. Leung, Davood Mansouri, Trine H. Mogensen, Lisa F. P. Ng, Antonio Novelli, Giuseppe Novelli, Keisuke Okamoto, Satoshi Okada, Qiang Pan‐Hammarström

    出版 2024
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