Browsing by Author Planas Serra, Laura
Showing results 8 to 17 of 17
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Issue Date | Title | Author(s) |
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1-Aug-2022 | Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study | Davalos, Veronica; García Prieto, Carlos A.; Ferrer, Gerardo; Aguilera Albesa, Sergio; Valencia Ramos, Juan; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Planas Serra, Laura; Jordan, Iolanda; Alegría, Iosune; Flores Pérez, Patricia; Cantarín, Verónica; Fumadó, Victoria; Viadero, Maria Teresa; Rodrigo, Carlos; Méndez Hernández, Maria; López Granados, Eduardo; Colobran, Roger; Rivière, Jacques G.; Soler Palacín, Pere; Pujol, Aurora; Esteller, Manel |
1-Apr-2021 | Epigenome-wide association study of COVID-19 severity with respiratory failure | Castro de Moura, Manuel; Davalos, Veronica; Planas Serra, Laura; Alvarez Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera Albesa, Sergio; Troya, Jesús; Valencia Ramos, Juan; Vélez Santamaria, Valentina; Rodríguez Palmero, Agustí; Villar García, Judit; Horcajada, Juan Pablo; Albu, Sergiu; Casasnovas Pons, Carlos; Rull, Anna; Reverte, Laia; Dietl, Beatriz; Dalmau, David; Arranz, Maria J.; Llucià-carol, Laia; Planas, Anna M.; Pérez Tur, Jordi; Fernández Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin Nalda, Andrea; Soler Palacín, Pere; Vidal, Francesc; Pujol Onofre, Aurora; Esteller, Manel |
26-Apr-2020 | HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome | Reichert, Sara Chadwick; Li, Rachel; Turner, Scott; Van Jaarsveld, Richard H.; Massink, Maarten P. G.; Van Den Boogaard, Marie José H.; Toro, Mireia del; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Schlüter, Agatha; Planas Serra, Laura; Pujol Onofre, Aurora; Iascone, Maria; Maitz, Sylvia; Loong, Lucy; Stewart, Helen; Franco, Elisa De; Ellard, Sian; Frank, Julie; Lewandowski, Raymond |
5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
23-Oct-2020 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Zhang, Qian; Dorgham, Karim; Schlüter, Agatha; Quiros Roldan, Eugenia; Novelli, Giuseppe; Planas Serra, Laura; Rodríguez Palmero, Agustí; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; NIAID-USUHS/TAGC COVID Immunity Group |
13-Apr-2021 | Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain | Troya, Jesús; Bastard, Paul; Planas Serra, Laura; Ryan, Pablo; Ruiz, Montserrat; Carranza, María de; Torres, Juan; Martínez, Amalia; Abel, Laurent; Casanova, Jean-Laurent; Pujol Onofre, Aurora |
17-Jul-2023 | RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia | Launay, Nathalie; Ruiz, Montserrat; Planas Serra, Laura; Verdura, Edgard; Rodríguez Palmero, Agustí; Schlüter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean Laurent; Boespflug‐Tanguy, Odile; Vazquez Cancela, Maria; González Gutiérrez-Solana, Luis; Casasnovas, Carlos; Area Gomez, Estela; Pujol, Aurora |
1-Mar-2021 | Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males | Baldassarri, Margherita; Picchiotti, Nicola; Fava, Francesca; Fallerini, Chiara; Benetti, Elisa; Daga, Sergio; Valentino, Floriana; Doddato, Gabriella; Furini, Simone; Giliberti, Annarita; Tita, Rossella; Amitrano, Sara; Bruttini, Mirella; Croci, Susanna; Meloni, Ilaria; Pinto, Anna Maria; Iuso, Nicola; Gabbi, Chiara; Sciarra, Francesca; Venneri, Mary Anna; Gori, Marco; Sanarico, Maurizio; Crawley, Francis P.; Pagotto, Uberto; Fanelli, Flaminia; Mezzullo, Marco; Dominguez Garrido, Elena; Planas Serra, Laura; Schlüter, Agatha; Colobran, Roger; Soler Palacín, Pere; Lapunzina, Pablo; Tenorio, Jair; Pujol Onofre, Aurora; Castagna, Maria Grazia; Marcelli, Marco; Isidori, Andrea M.; Renieri, Alessandra; Frullanti, Elisa; Mari, Francesca; Spanish Covid HGE, GENCOVID Multicenter Study |
23-May-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora |
19-Aug-2021 | X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 | Asano, Takaki; Boisson, Bertrand; Onodi, Fanny; Matuozzo, Daniela; Moncada Velez, Marcela; Maglorius Renkilaraj, Majistor Raj Luxman; Zhang, Peng; Meertens, Laurent; Bolze, Alexandre; Materna, Marie; Korniotis, Sarantis; Lifton, Richard P.; Bastard, Paul; Abel, Laurent; Jouanguy, Emmanuelle; Amara, Ali; Soumelis, Vassili; Cobat, Aurélie; Zhang, Qian; Casanova, Jean-Laurent; COVID Human Genetic Effort; French COVID Cohort Study Group; COVID-STORM Clinicians; Amsterdam UMC Covid-19 Biobank; COVID Clinicians; Gervais, Adrian; Imagine COVID Group; CoV-Contact Cohort; NIAID-USUHS COVID Study Group; Talouarn, Estelle; Bigio, Benedetta; Seeleuthner, Yoann; Bilguvar, Kaya; Zhang, Yu; Neehus, Anna-Lena; Ogishi, Masato; Soler Palacín, Pere; Pelham, Simon J.; Martin Nalda, Andrea; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Colobran, Roger; Rivière, Jacques G.; Tandjaoui-Lambiotte, Yacine; Chaïbi, Khalil; Shahrooei, Mohammad; Darazam, Ilad Alavi; Olyaei, Nasrin Alipour; Mansouri, Davood; Hatipoğlu, Nevin; Casari, Giorgio; Palabiyik, Figen; Carrera, Paola; Ozcelik, Tayfun; Novelli, Giuseppe; Novelli, Antonio; Aiuti, Alessandro; Bondesan, Simone; Barzaghi, Federica; Rovere-Querini, Patrizia; Tresoldi, Cristina; Franco, Jose Luis; Rojas, Julian; Reyes, Luis Felipe; Bustos, Ingrid G.; Planas Serra, Laura; Arias, Andres Augusto; Gut, Marta; Morelle, Guillaume; Christèle, Kyheng; Troya, Jesús; Schlüter, Agatha; Pujol, Aurora; Allende, Luis M.; Rodriguez Gallego, Carlos; Flores, Carlos; Cabrera Marante, Oscar; Pleguezuelo, Daniel E.; Pérez de Diego, Rebeca; Keles, Sevgi; Brodin, Petter; Aytekin, Gokhan; Smith, C.I. Edvard; Akcan, Ozge Metin; Bryceson, Yenan T.; Bergman, Peter; Smole, Daniel; Norlin, Anna-Carin; Campbell, Tessa M.; Covill, Laura E.; Hammarström, Lennart; Pan-Hammarström, Qiang; Abolhassani, Hassan; Mane, Shrikant; Marr, Nico; Dalgard, Clifton L.; Ata, Manar; Biondi, Andrea; Al Ali, Fatima; Khan, Taushif; Spaan, András N.; Bonfanti, Paolo; Tubiana, Sarah; Burdet, Charles; Nussbaum, Robert L.; Kahn-Kirby, Amanda; Snow, Andrew L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stéphanie; Notarangelo, Luigi D.; Zhang, Shen-Ying; Su, Helen C.; Béziat, Vivien |