Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Laura Batlle-Masó"'
Autor:
Laura Batlle-Masó, Marina Garcia-Prat, Alba Parra-Martínez, Clara Franco-Jarava, Aina Aguiló-Cucurull, Pablo Velasco, María Antolín, Jacques G. Rivière, Andrea Martín-Nalda, Pere Soler-Palacín, Mónica Martínez-Gallo, Roger Colobran
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymp
Externí odkaz:
https://doaj.org/article/e0f83cb2daa740a899fab25ee5c01c2d
Autor:
Manuel Solís-Moruno, Anna Mensa-Vilaró, Laura Batlle-Masó, Irene Lobón, Núria Bonet, Tomàs Marquès-Bonet, Juan I. Aróstegui, Ferran Casals
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract There are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, the relative importa
Externí odkaz:
https://doaj.org/article/71ffda2323b34170856d383b012a8230
Autor:
Clara Franco-Jarava, Irene Valenzuela, Jacques G. Riviere, Marina Garcia-Prat, Mónica Martínez-Gallo, Romina Dieli-Crimi, Neus Castells, Laura Batlle-Masó, Pere Soler-Palacin, Roger Colobran
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to l
Externí odkaz:
https://doaj.org/article/f2279b5b19ad495ba5282ab285a40b9a
Autor:
Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, Ferran Casals, Jacques G. Rivière, Mónica Martínez-Gallo, Xavier de la Cruz, Roger Colobran
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples from these patients. This
Externí odkaz:
https://doaj.org/article/aa915b4130a44308a82e0f9dd6a1bf13
Autor:
Lukas F. K. Kuderna, Manuel Solís-Moruno, Laura Batlle-Masó, Eva Julià, Esther Lizano, Roger Anglada, Erika Ramírez, Alex Bote, Marc Tormo, Tomàs Marquès-Bonet, Òscar Fornas, Ferran Casals
Publikováno v:
Frontiers in Genetics, Vol 10 (2020)
Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a workflow to sequence native, unam
Externí odkaz:
https://doaj.org/article/9ef794e77cf54f8c90d856e055f5089e
Autor:
Manuel Solís-Moruno, Anna Mensa-Vilaró, Laura Batlle-Masó, Irene Lobón, Núria Bonet, Tomàs Marquès-Bonet, Juan I. Aróstegui, Ferran Casals
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/a44ed19bfe8e4bafbd9991f51511bc85
Autor:
Guillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Eva González-Roca, Ana María Plaza-Martin, Ángela Deyà-Martínez, Andrea Martín-Nalda, Mónica Martínez-Gallo, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Marta Codina-Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Pere Soler-Palacín, Roger Colobran, Jordi Yagüe, Laia Alsina, Manel Juan, Ferran Casals
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological cr
Externí odkaz:
https://doaj.org/article/101b88bc2f1f4640aaf1b70c55b35578
Autor:
Irene Lobon, Núria Bonet, Juan I. Aróstegui, Laura Batlle-Masó, Anna Mensa-Vilaro, Manuel Solís-Moruno, Ferran Casals, Tomas Marques-Bonet
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
There are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, the relative importance and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417849111fca7456d8a956851d2f4443
http://hdl.handle.net/2445/186221
http://hdl.handle.net/2445/186221
Autor:
Manuel Solís-Moruno, Tomas Marques-Bonet, Juan I. Aróstegui, Anna Mensa-Vilaro, Laura Batlle-Masó, Ferran Casals
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the genetic origin of the diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::796257a6c9ba248a19154939d970843e
http://hdl.handle.net/10261/219943
http://hdl.handle.net/10261/219943
Autor:
Laura Batlle-Masó, Juan I. Aróstegui, Ferran Casals, Anna Mensa-Vilaro, Tomas Marques-Bonet, Irene Lobon, Núria Bonet, Manuel Solís-Moruno
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)