Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deathsPaul Bastard Adrian Gervais; Tom Le Voyer; Jérémie Rosain; Quentin Philippot; Jérémy Manry; Eleftherios Michailidis; Hans-Heinrich Hoffmann; Shohei Eto; Marina Garcia-Prat; Lucy Bizien; Alba Parra-Martínez; Rui Yang; Haljasmägi Liis; Mélanie Migaud; Karita Särekannu; Julia Maslovskaja; Nicolas de Prost; Yacine Tandjaoui-Lambiotte; Charles-Edouard Luyt; Blanca Amador-Borrero; Gaudet Alexandre; Julien Poissy; Pascal Morel; Pascale Richard; Fabrice Cognasse; Jesus Troya; Sophie Trouillet-Assant; Alexandre Belot; Kahina Saker; Pierre Garçon; Jacques G Rivière; Jean-Christophe Lagier; Stéphanie Gentile; Lindsey B Rosen; Elana Shaw; Tomohiro Morio; Junko Tanaka; David Dalmau; Pierre-Louis Tharaux; Damien Sene; Alain Stepanian; Bruno Megarbane; Vasiliki Triantafyllia; Arnaud Fekkar; James R Heath; José Luis Franco; Juan-Manuel Anaya; Jordi Solé-Violán; Luisa Imberti; Andrea Biondi; Paolo Bonfanti; Riccardo Castagnoli; Ottavia M Delmonte; Yu Zhang; Andrew L Snow; Steven M Holland; Catherine M Biggs; Marcela Moncada-Vélez; Andrés Augusto Arias; Lazaro Lorenzo; Soraya Boucherit; Boubacar Coulibaly; Dany Anglicheau; Anna M Planas; Filomeen Haerynck; Sotirija Duvlis; Robert L Nussbaum; Tayfun Ozcelik; Sevgi Keles; Ahmed A Bousfiha; Jalila ElBakkouri; Carolina Ramirez-Santana; Stéphane Paul; Qiang Pan-Hammarström; Lennart Hammarström; Annabelle Dupont; Alina Kurolap; Christine N Metz; Alessandro Aiuti; Giorgio Casari; Vito Lampasona; Fabio Ciceri; Lucila A Barreiros; Elena Dominguez-Garrido; Mateus Vidigal; Mayana Zatz; Diederik van de Beek; Sabina Sahanic; Ivan Tancevski; Yurii Stepanovskyy; Oksana Boyarchuk; Yoko Nukui; Miyuki Tsumura; Loreto Vidaur; Stuart G Tangye; Sonia Burrel; Darragh Duffy; Lluis Quintana-Murci; Adam Klocperk; Nelli Y Kann; Anna Shcherbina; Yu-Lung Lau; Daniel Leung; Matthieu Coulongeat; Julien Marlet; Rutger Koning; Luis Felipe Reyes; Angélique Chauvineau-Grenier; Fabienne Vene; Guillaume Monneret; Michel C Nussenzweig; Romain Arrestier; Idris Boudhabhay; Hagit Baris-Feldman; David Hagin; Joost Wauters; Isabelle Meyts; Adam H Dyer; Sean P Kennelly; Nollaig M Bourke; Rabih Halwani; Narjes Saheb Sharif-Askari; Karim Dorgham; Jérome Sallette; Souad Mehlal Sedkaoui; Suzan AlKhater; Raúl Rigo-Bonnin; Francisco Morandeira; Lucie Roussel; Donald C Vinh; Sisse Rye Ostrowski; Antonio Condino Neto; Carolina Prando; Anastasiia Bondarenko; András N Spaan; Laurent Gilardin; Jacques Fellay; Stanislas Lyonnet; Kaya Bilguvar; Richard P Lifton; Shrikant Mane; Mark S Anderson; Bertrand Boisson; Vivien Béziat; Shen-Ying Zhang; Evangelos Andreakos; Olivier Hermine; Aurora Pujol; Pärt Peterson; Trine Mogensen; Lee H Rowen; James Mond; Stéphanie Debette; Xavier de Lamballerie; Xavier Duval; France Mentré; Marie Zins; Pere Soler-Palacin; Roger Colobran; Guy Gorochov; Xavier Solanich; Sophie Susen; Javier Martinez-Picado; Didier Raoult; Marc Vasse; Peter K Gregersen; Lorenzo Piemonti; Carlos Rodríguez-Gallego; Luigi D Notarangelo; Helen C Su; Kai Kisand; Satoshi Okada; Anne Puel; Emmanuelle Jouanguy; Charles M Rice; Pierre Tiberghien; Qian Zhang; Aurélie Cobat; Laurent Abel; Jean-Laurent Casanova; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James’s Hospital SARS CoV2 Interest group; French COVID Cohort Study Group; Imagine COVID-Group; The Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank Investigators; COVID Human Genetic Effort; CONSTANCES cohort; 3C-Dijon Study; Cerba HealthCare; Etablissement du Sang study groupScience Immunology Washington v. 6, n. 62, p. 1-30, 2021Washington 2021Item não circula. Consulte sua biblioteca.(Acessar) |
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2 |
Material Type: Artigo
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From phenotyping to genotyping - bioinformatics for the busy clinicianReches, A. ; Weiss, K. ; Bazak, L. ; Baris Feldman, H. ; Maya, I.European journal of medical genetics, 2019-08, Vol.62 (8), p.103689-103689, Article 103689 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
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3 |
Material Type: Artigo
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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesGallon, Richard ; Mühlegger, Barbara ; Wenzel, Sören‐Sebastian ; Sheth, Harsh ; Hayes, Christine ; Aretz, Stefan ; Dahan, Karin ; Foulkes, William ; Kratz, Christian P. ; Ripperger, Tim ; Azizi, Amedeo A. ; Baris Feldman, Hagit ; Chong, Anne‐Laure ; Demirsoy, Ugur ; Florkin, Benoît ; Imschweiler, Thomas ; Januszkiewicz‐Lewandowska, Danuta ; Lobitz, Stephan ; Nathrath, Michaela ; Pander, Hans‐Jürgen ; Perez‐Alonso, Vanesa ; Perne, Claudia ; Ragab, Iman ; Rosenbaum, Thorsten ; Rueda, Daniel ; Seidel, Markus G. ; Suerink, Manon ; Taeubner, Julia ; Zimmermann, Stefanie‐Yvonne ; Zschocke, Johannes ; Borthwick, Gillian M. ; Burn, John ; Jackson, Michael S. ; Santibanez‐Koref, Mauro ; Wimmer, KatharinaHuman mutation, 2019-05, Vol.40 (5), p.649-655 [Periódico revisado por pares]United States: Wiley Periodicals IncTexto completo disponível |
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4 |
Material Type: Artigo
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P51 Evaluating the Patient Experience with CD55 Deficiency with Hyperactivation of Complement, Angiopathic Thrombosis, and Protein-Losing Enteropathy (CHAPLE) Disease: A Deadly Ultra-Rare Pediatric DiseaseLitcher-Kelly, L. ; Ollis, S. ; Yaworsky, A. ; Baris Feldman, H. ; Harari, O. ; Ozen, A. ; Jalbert, J.Value in health, 2023-06, Vol.26 (6), p.S11-S11 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumoniaZhang, Qian ; Matuozzo, Daniela ; Le Pen, Jérémie ; Lee, Danyel ; Moens, Leen ; Asano, Takaki ; Bohlen, Jonathan ; Liu, Zhiyong ; Moncada-Velez, Marcela ; Kendir-Demirkol, Yasemin ; Jing, Huie ; Bizien, Lucy ; Marchal, Astrid ; Abolhassani, Hassan ; Delafontaine, Selket ; Bucciol, Giorgia ; Bayhan, Gulsum Ical ; Keles, Sevgi ; Kiykim, Ayca ; Hancerli, Selda ; Haerynck, Filomeen ; Florkin, Benoit ; Hatipoglu, Nevin ; Ozcelik, Tayfun ; Morelle, Guillaume ; Zatz, Mayana ; Ng, Lisa F P ; Lye, David Chien ; Young, Barnaby Edward ; Leo, Yee-Sin ; Dalgard, Clifton L ; Lifton, Richard P ; Renia, Laurent ; Meyts, Isabelle ; Jouanguy, Emmanuelle ; Hammarström, Lennart ; Pan-Hammarström, Qiang ; Boisson, Bertrand ; Bastard, Paul ; Su, Helen C ; Boisson-Dupuis, Stéphanie ; Abel, Laurent ; Rice, Charles M ; Zhang, Shen-Ying ; Cobat, Aurélie ; Casanova, Jean-LaurentThe Journal of experimental medicine, 2022-08, Vol.219 (8) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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6 |
Material Type: Artigo
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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in childrenLee, Danyel ; Le Pen, Jérémie ; Yatim, Ahmad ; Dong, Beihua ; Aquino, Yann ; Ogishi, Masato ; Pescarmona, Rémi ; Talouarn, Estelle ; Rinchai, Darawan ; Zhang, Peng ; Perret, Magali ; Liu, Zhiyong ; Jordan, Iolanda ; Elmas Bozdemir, Sefika ; Bayhan, Gulsum Iclal ; Beaufils, Camille ; Bizien, Lucy ; Bisiaux, Aurelie ; Lei, Weite ; Hasan, Milena ; Chen, Jie ; Gaughan, Christina ; Asthana, Abhishek ; Libri, Valentina ; Luna, Joseph M ; Jaffré, Fabrice ; Hoffmann, H-Heinrich ; Michailidis, Eleftherios ; Moreews, Marion ; Seeleuthner, Yoann ; Bilguvar, Kaya ; Mane, Shrikant ; Flores, Carlos ; Zhang, Yu ; Arias, Andrés A ; Bailey, Rasheed ; Schlüter, Agatha ; Milisavljevic, Baptiste ; Bigio, Benedetta ; Le Voyer, Tom ; Materna, Marie ; Gervais, Adrian ; Moncada-Velez, Marcela ; Pala, Francesca ; Lazarov, Tomi ; Levy, Romain ; Neehus, Anna-Lena ; Rosain, Jérémie ; Peel, Jessica ; Chan, Yi-Hao ; Morin, Marie-Paule ; Pino-Ramirez, Rosa Maria ; Belkaya, Serkan ; Lorenzo, Lazaro ; Anton, Jordi ; Delafontaine, Selket ; Toubiana, Julie ; Bajolle, Fanny ; Fumadó, Victoria ; DeDiego, Marta L ; Fidouh, Nadhira ; Rozenberg, Flore ; Pérez-Tur, Jordi ; Chen, Shuibing ; Evans, Todd ; Geissmann, Frédéric ; Lebon, Pierre ; Weiss, Susan R ; Bonnet, Damien ; Duval, Xavier ; Pan-Hammarström, Qiang ; Planas, Anna M ; Meyts, Isabelle ; Pujol, Aurora ; Sancho-Shimizu, Vanessa ; Dalgard, Clifford L ; Bustamante, Jacinta ; Puel, Anne ; Boisson-Dupuis, Stéphanie ; Boisson, Bertrand ; Maniatis, Tom ; Zhang, Qian ; Bastard, Paul ; Notarangelo, Luigi ; Béziat, Vivien ; Perez de Diego, Rebeca ; Rodriguez-Gallego, Carlos ; Su, Helen C ; Lifton, Richard P ; Jouanguy, Emmanuelle ; Cobat, Aurélie ; Alsina, Laia ; Keles, Sevgi ; Haddad, Elie ; Abel, Laurent ; Belot, Alexandre ; Quintana-Murci, Lluis ; Rice, Charles M ; Silverman, Robert H ; Zhang, Shen-YingScience (American Association for the Advancement of Science), 2023-02, Vol.379 (6632), p.eabo3627-eabo3627 [Periódico revisado por pares]United States: The American Association for the Advancement of ScienceTexto completo disponível |
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7 |
Material Type: Artigo
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Autoantibodies against type I IFNs in patients with critical influenza pneumoniaZhang, Qian ; Pizzorno, Andrés ; Miorin, Lisa ; Bastard, Paul ; Gervais, Adrian ; Le Voyer, Tom ; Bizien, Lucy ; Manry, Jeremy ; Rosain, Jérémie ; Philippot, Quentin ; Goavec, Kelian ; Padey, Blandine ; Cupic, Anastasija ; Laurent, Emilie ; Saker, Kahina ; Vanker, Martti ; Särekannu, Karita ; García-Salum, Tamara ; Ferres, Marcela ; Le Corre, Nicole ; Sánchez-Céspedes, Javier ; Balsera-Manzanero, María ; Carratala, Jordi ; Retamar-Gentil, Pilar ; Abelenda-Alonso, Gabriela ; Valiente, Adoración ; Tiberghien, Pierre ; Zins, Marie ; Debette, Stéphanie ; Meyts, Isabelle ; Haerynck, Filomeen ; Castagnoli, Riccardo ; Notarangelo, Luigi D ; Gonzalez-Granado, Luis I ; Dominguez-Pinilla, Nerea ; Andreakos, Evangelos ; Triantafyllia, Vasiliki ; Rodríguez-Gallego, Carlos ; Solé-Violán, Jordi ; Ruiz-Hernandez, José Juan ; Rodríguez de Castro, Felipe ; Ferreres, José ; Briones, Marisa ; Wauters, Joost ; Vanderbeke, Lore ; Feys, Simon ; Kuo, Chen-Yen ; Lei, Wei-Te ; Ku, Cheng-Lung ; Tal, Galit ; Etzioni, Amos ; Hanna, Suhair ; Fournet, Thomas ; Casalegno, Jean-Sebastien ; Queromes, Gregory ; Argaud, Laurent ; Javouhey, Etienne ; Rosa-Calatrava, Manuel ; Cordero, Elisa ; Aydillo, Teresa ; Medina, Rafael A ; Kisand, Kai ; Puel, Anne ; Jouanguy, Emmanuelle ; Abel, Laurent ; Cobat, Aurélie ; Trouillet-Assant, Sophie ; García-Sastre, Adolfo ; Casanova, Jean-LaurentThe Journal of experimental medicine, 2022-11, Vol.219 (11) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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8 |
Material Type: Artigo
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Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiencyCampbell, Tessa Mollie ; Liu, Zhiyong ; Zhang, Qian ; Moncada-Velez, Marcela ; Covill, Laura E ; Zhang, Peng ; Alavi Darazam, Ilad ; Bastard, Paul ; Bizien, Lucy ; Bucciol, Giorgia ; Lind Enoksson, Sara ; Jouanguy, Emmanuelle ; Karabela, Şemsi Nur ; Khan, Taushif ; Kendir-Demirkol, Yasemin ; Arias, Andres Augusto ; Mansouri, Davood ; Marits, Per ; Marr, Nico ; Migeotte, Isabelle ; Moens, Leen ; Ozcelik, Tayfun ; Pellier, Isabelle ; Sendel, Anton ; Şenoğlu, Sevtap ; Shahrooei, Mohammad ; Smith, C I Edvard ; Vandernoot, Isabelle ; Willekens, Karen ; Kart Yaşar, Kadriye ; Bergman, Peter ; Abel, Laurent ; Cobat, Aurélie ; Casanova, Jean-Laurent ; Meyts, Isabelle ; Bryceson, Yenan TThe Journal of experimental medicine, 2022-07, Vol.219 (7) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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9 |
Material Type: Artigo
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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumoniaGarcía-García, Ana ; Pérez de Diego, Rebeca ; Flores, Carlos ; Rinchai, Darawan ; Solé-Violán, Jordi ; Deyà-Martínez, Àngela ; García-Solis, Blanca ; Lorenzo-Salazar, José M ; Hernández-Brito, Elisa ; Lanz, Anna-Lisa ; Moens, Leen ; Bucciol, Giorgia ; Almuqamam, Mohamed ; Domachowske, Joseph B ; Colino, Elena ; Santos-Perez, Juan Luis ; Marco, Francisco M ; Pignata, Claudio ; Bousfiha, Aziz ; Turvey, Stuart E ; Bauer, Stefanie ; Haerynck, Filomeen ; Ocejo-Vinyals, Javier Gonzalo ; Lendinez, Francisco ; Prader, Seraina ; Naumann-Bartsch, Nora ; Pachlopnik Schmid, Jana ; Biggs, Catherine M ; Hildebrand, Kyla ; Dreesman, Alexandra ; Cárdenes, Miguel Ángel ; Ailal, Fatima ; Benhsaien, Ibtihal ; Giardino, Giuliana ; Molina-Fuentes, Agueda ; Fortuny, Claudia ; Madhavarapu, Swetha ; Conway, Daniel H ; Prando, Carolina ; Schidlowski, Laire ; Martínez de Saavedra Álvarez, María Teresa ; Alfaro, Rafael ; Rodríguez de Castro, Felipe ; Meyts, Isabelle ; Hauck, Fabian ; Puel, Anne ; Bastard, Paul ; Boisson, Bertrand ; Jouanguy, Emmanuelle ; Abel, Laurent ; Cobat, Aurélie ; Zhang, Qian ; Casanova, Jean-Laurent ; Alsina, Laia ; Rodríguez-Gallego, CarlosThe Journal of experimental medicine, 2023-05, Vol.220 (5) [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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10 |
Material Type: Artigo
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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumoniaPérez de Diego, Rebeca ; Lorenzo-Salazar, José M ; Lanz, Anna-Lisa ; Bucciol, Giorgia ; Almuqamam, Mohamed ; Domachowske, Joseph B ; Colino, Elena ; Santos-Perez, Juan Luis ; Marco, Francisco M ; Bousfiha, Aziz ; Bauer, Stefanie ; Ocejo-Vinyals, Javier Gonzalo ; Lendinez, Francisco ; Prader, Seraina ; Naumann-Bartsch, Nora ; Pachlopnik Schmid, Jana ; Biggs, Catherine M ; Hildebrand, Kyla ; Dreesman, Alexandra ; Ailal, Fatima ; Molina-Fuentes, Agueda ; Fortuny, Claudia ; Conway, Daniel H ; Prando, Carolina ; Schidlowski, Laire ; Martínez de Saavedra Álvarez, María Teresa ; Kindle, Gerhard ; Mahlaoui, Nizar ; Vassilios, Lougaris ; Seppänen, Mikko R.J ; Al-Muhsen, Saleh ; Al-Mulla, Fahd ; Anderson, Mark S ; Arias, Andrés A ; Baris Feldman, Hagit ; Bogunovic, Dusan ; Bolze, Alexandre ; Bondarenko, Anastasiia ; Bousfiha, Ahmed A ; Brodin, Petter ; Bryceson, Yenan ; Christodoulou, John ; Condino-Neto, Antonio ; Constantinescu, Stefan N ; Dalgard, Clifton L ; Desai, Murkesh ; Drolet, Beth A ; Espinosa-Padilla, Sara ; Hagin, David ; Halwani, Rabih ; Hammarström, Lennart ; Heath, James R ; Hsieh, Elena W.Y ; Husebye, Eystein ; Itan, Yuval ; Jarvis, Erich D ; Karamitros, Timokratis ; Kisand, Kai ; Lau, Yu-Lung ; Ling, Yun ; Lucas, Carrie L ; Milner, Joshua D ; Mironska, Kristina ; Mogensen, Trine H ; Notarangelo, Luigi D ; Novelli, Antonio ; Okada, Satoshi ; Okamoto, Keisuke ; Ozcelik, Tayfun ; Pan-Hammarström, Qiang ; Pape, Jean W ; Perlin, David S ; Pesole, Graziano ; Planas, Anna M ; Pujol, Aurora ; Renia, Laurent ; Seppänan, Mikko R.J ; Shahrooei, Mohammed ; Shcherbina, Anna ; Slaby, Ondrej ; Soler-Palacín, Pere ; Spaan, András N ; Tangye, Stuart G ; Tayoun, Ahmad Abou ; Uddin, K M Furkan ; Uddin, Mohammed J ; van de Beek, Diederik ; von Bernuth, Horst ; Zatz, Mayana ; Zawadzki, Pawel ; Su, Helen C ; Casanova, Jean-Laurent ; Hauck, Fabian ; Puel, Anne ; Bastard, Paul ; Boisson, Bertrand ; Cobat, Aurélie ; Zhang, Qian ; ESID Registry Working Party, [missing] ; COVID Human Genetic Effort, [missing]Rockefeller University Press 2023Texto completo disponível |