Browsing by Author "Codina i Solà, Marta, 1988-"

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  • Valles Ibáñez, Guillem de, 1986-; Hernández Rodríguez, Jéssica, 1983-; Laayouni, Hafid, 1968-; Cuscó Martí, Ivon, 1973-; Codina i Solà, Marta, 1988-; Batlle Masó, Laura; Solís Moruno, Manuel; Marquès i Bonet, Tomàs, 1975-; Bosch Fusté, Elena; Casals López, Ferran (Frontiers, 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 ...
  • Homs Raubert, Aïda, 1983-; Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Villanueva, Cristina M.; Monk, Dave; Cuscó Martí, Ivon, 1973-; Pérez Jurado, Luis Alberto (Nature Publishing Group, 2016)
    Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is ...
  • Codina i Solà, Marta, 1988-; Costa-Roger, Mar; Pérez García, Débora, 1985-; Flores Peirats, Raquel; Palacios Verdú, María Gabriela, 1983-; Cuscó Martí, Ivon, 1973-; Pérez Jurado, Luis Alberto (BMJ Publishing Group, 2019)
    Background: The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). ...
  • Codina i Solà, Marta, 1988- (Universitat Pompeu Fabra, 2016-07-14)
    The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific ...
  • Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Homs Raubert, Aïda, 1983-; Santoyo-Lopez, Javier; Rigau, Maria; Aznar Laín, Gemma; Campo Casanelles, Miguel del, 1966-; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez Arumi, Armand, 1980-; Antiñolo, Guillermo; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973- (BioMed Central, 2015)
    BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited ...
  • Codina i Solà, Marta, 1988-; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973-; Serra Juhé, Clara, 1984- (Springer, 2017)
    Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to ...
  • Engelken, Johannes; Espadas, Guadalupe; Mancuso, Francesco M.; Bonet, Núria; Scherr, Anna-Lena; Jímenez Álvarez, Victoria; Codina i Solà, Marta, 1988-; Medina Stacey, Daniel; Spataro, Nino, 1984-; Stoneking, Mark; Calafell i Majó, Francesc; Sabidó Aguadé, Eduard, 1981-; Bosch, Elena (Oxford University Press, 2016)
    Essential trace elements possess vital functions at molecular, cellular, and physiological levels in health and disease, and they are tightly regulated in the human body. In order to assess variability and potential adaptive ...