Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

per Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobran, Roger, Cervera, José Vicente
Publicat a Front Immunol (2021)

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

per Rudilla, Francesc, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Garcia-Prat, Marina, Martín-Nalda, Andrea, Rivière, Jacques, Aguiló-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier, Irastorza, Iñaki, Santos-Pérez, Juan Luis, Tercedor Sánchez, Jesús, Cuscó, Ivon, Serra, Clara, Baz-Redón, Noelia, Fernández-Cancio, Mónica, Carreras, Carmen, Vagace, José Manuel, Garcia-Patos, Vicenç, Pujol-Borrell, Ricardo, Soler-Palacín, Pere, Colobran, Roger
Publicat a Front Immunol (2019)

B–helper neutrophils stimulate immunoglobulin diversification and production in the marginal zone of the spleen

per Puga, Irene, Cols, Montserrat, Barra, Carolina M., He, Bing, Cassis, Linda, Gentile, Maurizio, Comerma, Laura, Chorny, Alejo, Shan, Meimei, Xu, Weifeng, Magri, Giuliana, Knowles, Daniel M., Tam, Wayne, Chiu, April, Bussel, James B, Serrano, Sergi, Lorente, José Antonio, Bellosillo, Beatriz, Lloreta, Josep, Juanpere, Nuria, Alameda, Francesc, Baró, Teresa, de Heredia, Cristina Díaz, Torán, Núria, Català, Albert, Torrebadell, Montserrat, Fortuny, Claudia, Cusi, Victoria, Carreras, Carmen, Diaz, George A., Blander, J. Magarian, Farber, Claire-Michèle, Silvestri, Guido, Cunningham-Rundles, Charlotte, Calvillo, Michaela, Dufour, Carlo, Notarangelo, Lucia Dora, Lougaris, Vassilios, Plebani, Alessandro, Casanova, Jean-Laurent, Ganal, Stephanie C., Diefenbach, Andreas, Aróstegui, Juan Ignacio, Juan, Manel, Yagüe, Jordi, Mahlaoui, Nizar, Donadieu, Jean, Chen, Kang, Cerutti, Andrea
Publicat 2011