Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Ferran Casals"'
Autor:
Elena Urbaneja, Nuria Bonet, Manuel Solis-Moruno, Anna Mensa-Vilaro, Iñaki Ortiz de Landazuri, Marc Tormo, Rocio Lara, Susana Plaza, Virginia Fabregat, Jordi Yagüe, Ferran Casals, Juan I. Arostegui
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy coup
Externí odkaz:
https://doaj.org/article/d2de9ccd26d54fabbd516c5bce5426ee
Autor:
Aina Calls, Abel Torres‐Espin, Marc Tormo, Laura Martínez‐Escardó, Núria Bonet, Ferran Casals, Xavier Navarro, Víctor J. Yuste, Esther Udina, Jordi Bruna
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1985-1998 (2022)
Abstract Objectives Peripheral neuropathy is a relevant dose‐limiting adverse event that can affect up to 90% of oncologic patients with colorectal cancer receiving oxaliplatin treatment. The severity of neurotoxicity often leads to dose reduction
Externí odkaz:
https://doaj.org/article/70f71dc3d328466699b425c404d85437
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:
Irene Lobon, Manuel Solís-Moruno, David Juan, Ashraf Muhaisen, Federico Abascal, Paula Esteller-Cucala, Raquel García-Pérez, Maria Josep Martí, Eduardo Tolosa, Jesús Ávila, Raheleh Rahbari, Tomas Marques-Bonet, Ferran Casals, Eduardo Soriano
Publikováno v:
Frontiers in Aging, Vol 3 (2022)
The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease’s phenotype. To explore the re
Externí odkaz:
https://doaj.org/article/011c1e8d4d8244819e098b74be025789
Autor:
Maja P. Mattle-Greminger, Tugce Bilgin Sonay, Alexander Nater, Marc Pybus, Tariq Desai, Guillem de Valles, Ferran Casals, Aylwyn Scally, Jaume Bertranpetit, Tomas Marques-Bonet, Carel P. van Schaik, Maria Anisimova, Michael Krützen
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Integrating demography and adaptive evolution is pivotal to understanding the evolutionary history and conservation of great apes. However, little is known about the adaptive evolution of our closest relatives, in particular if an
Externí odkaz:
https://doaj.org/article/46fd2b4542f14eadb2810e6b6086bc5a
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:
Ferran Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean-Christophe Grenier, Elias Gbeha, Fadi F Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L Michaud, Guy A Rouleau, Elie Haddad, Françoise Le Deist, Philip Awadalla
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003815 (2013)
Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations. Rare variants are enriched for functional mutations and are expected to expla
Externí odkaz:
https://doaj.org/article/9cc47deb1ace4078a7e93a220fcc9d66