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Novel frameshift variants expand the map of the genetic defects in IRF2BP2 by José María García-Aznar, Emilia Maneiro Pampín, Maite García Ramos, María José Acuña Pérez, Nerea Paz Gandiaga, Laura Minguell Domingo, Olga Calavia, Pere Soler-Palacin, Pere Soler-Palacin, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Erika M. Novoa Bolívar, Javier Gonzalo Ocejo Vinyals
Published 2023-10-01
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Consensus document on the management of febrile neutropenia in paediatric haematology and oncology patients of the Spanish Society of Pediatric Infectious Diseases (SEIP) and the S... by Leticia Martínez Campos, Paula Pérez-Albert, Laia Ferres Ramis, Elena María Rincón-López, Natalia Mendoza-Palomar, Pere Soler-Palacin, David Aguilera-Alonso
Published 2023-06-01
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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling by Jacques G. Rivière, Jacques G. Rivière, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran
Published 2020-02-01
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Five-Year Evaluation of the PROA-NEN Pediatric Antimicrobial Stewardship Program in a Spanish Tertiary Hospital by Aurora Fernández-Polo, Susana Melendo-Perez, Nieves Larrosa Escartin, Natalia Mendoza-Palomar, Marie Antoinette Frick, Pere Soler-Palacin, on behalf of the PROA-NEN Working Group
Published 2024-05-01
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Voriconazole Use in Children: Therapeutic Drug Monitoring and Control of Inflammation as Key Points for Optimal Treatment by José María Valle-T-Figueras, Berta Renedo Miró, Maria Isabel Benítez Carabante, Cristina Díaz-de-Heredia, Jaume Vima Bofarull, Natalia Mendoza-Palomar, Maria Teresa Martín-Gómez, Pere Soler-Palacín
Published 2021-06-01
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REIV-TOXO Project: Results from a Spanish cohort of congenital toxoplasmosis (2015-2022). The beneficial effects of prenatal treatment on clinical outcomes of infected newborns. by Borja Guarch-Ibáñez, Clara Carreras-Abad, Marie Antoinette Frick, Daniel Blázquez-Gamero, Fernando Baquero-Artigao, Isabel Fuentes, Spanish Research Network of Congenital Toxoplasmosis (REIV-TOXO) group, Pere Soler-Palacin
Published 2024-10-01
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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Pablo Velasco, María Antolín, Jacques G. Rivière, Jacques G. Rivière, Jacques G. Rivière, Andrea Martín-Nalda, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Pere Soler-Palacín, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran
Published 2022-11-01
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Neurological Short-Term Outcomes of a Cohort of Children Born to Zika Virus-Infected Mothers in Barcelona by Natàlia Romaní, Maria Pieras, Marie Antoinette Frick, Elena Sulleiro, Carlota Rodó, Aroa Silgado, Anna Suy, Maria Espiau, Claire Thorne, Carlo Giaquinto, Ana Felipe-Rucián, Pere Soler-Palacín, Antoni Soriano-Arandes
Published 2022-10-01
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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain) by Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Published 2019-12-01
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Symptom-Based Predictive Model of COVID-19 Disease in Children by Jesús M. Antoñanzas, Aida Perramon, Cayetana López, Mireia Boneta, Cristina Aguilera, Ramon Capdevila, Anna Gatell, Pepe Serrano, Miriam Poblet, Dolors Canadell, Mònica Vilà, Georgina Catasús, Cinta Valldepérez, Martí Català, Pere Soler-Palacín, Clara Prats, Antoni Soriano-Arandes, the COPEDI-CAT Research Group
Published 2021-12-01
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The COVID-19 Sentinel Schools Network of Catalonia (CSSNC) project: Associated factors to prevalence and incidence of SARS-CoV-2 infection in educational settings during the 2020-2... by Fabiana Ganem, Anna Bordas, Cinta Folch, Lucia Alonso, Marcos Montoro-Fernandez, Andreu Colom-Cadena, Ariadna Mas, Jacobo Mendioroz, Laia Asso, Andres Anton, Tomàs Pumarola, Maria Victoria González, Ignacio Blanco, Pere Soler-Palacín, Antoni Soriano-Arandes, Jordi Casabona, Sentinel School Network Study Group of Catalonia
Published 2022-01-01
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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening by Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín
Published 2021-09-01
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Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study by Veronica Davalos, Carlos A. García-Prieto, Gerardo Ferrer, Sergio Aguilera-Albesa, Juan Valencia-Ramos, Agustí Rodríguez-Palmero, Montserrat Ruiz, Laura Planas-Serra, Iolanda Jordan, Iosune Alegría, Patricia Flores-Pérez, Verónica Cantarín, Victoria Fumadó, Maria Teresa Viadero, Carlos Rodrigo, Maria Méndez-Hernández, Eduardo López-Granados, Roger Colobran, Jacques G. Rivière, Pere Soler-Palacín, Aurora Pujol, Manel Esteller
Published 2022-08-01
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Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts by Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen
Published 2023-07-01
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The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis by Sebastian FN Bode, Sandra Ammann, Waleed Al-Herz, Mihaela Bataneant, Christopher C Dvorak, Stephan Gehring, Andrew Gennery, Kimberly C Gilmour, Luis I Gonzalez-Granado, Ute Groß-Wieltsch, Marianne Ifversen, Jenny Lingman-Framme, Susanne Matthes-Martin, Rolf Mesters, Isabelle Meyts, Joris M van Montfrans, Jana Pachlopnik Schmid, Sung-Yun Pai, Pere Soler-Palacin, Uta Schuermann, Volker Schuster, Markus G. Seidel, Carsten Speckmann, Polina Stepensky, Karl-Walter Sykora, Bianca Tesi, Thomas Vraetz, Catherine Waruiru, Yenan T. Bryceson, Despina Moshous, Kai Lehmberg, Michael B Jordan, Stephan Ehl
Published 2015-07-01
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Clinical Outcomes of a Zika Virus Mother–Child Pair Cohort in Spain by Antoni Soriano-Arandes, Marie Antoinette Frick, Milagros García López-Hortelano, Elena Sulleiro, Carlota Rodó, María Paz Sánchez-Seco, Marta Cabrera-Lafuente, Anna Suy, María De la Calle, Mar Santos, Eugenia Antolin, María del Carmen Viñuela, María Espiau, Ainara Salazar, Borja Guarch-Ibáñez, Ana Vázquez, Juan Navarro-Morón, José-Tomás Ramos-Amador, Andrea Martin-Nalda, Eva Dueñas, Daniel Blázquez-Gamero, Resurrección Reques-Cosme, Iciar Olabarrieta, Luis Prieto, Fernando De Ory, Claire Thorne, Thomas Byrne, Anthony E. Ades, Elisa Ruiz-Burga, Carlo Giaquinto, María José Mellado-Peña, Alfredo García-Alix, Elena Carreras, Pere Soler-Palacín
Published 2020-05-01
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 by Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy 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 Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
Published 2023-04-01
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