Visualitza per autor "Cuscó, Ivon"

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  • Cuscó, Ivon; Campo Casanelles, Miguel del, 1966-; Vilardell Nogales, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez Jurado, Luis Alberto (BioMed Central, 2008)
    Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual ...
  • Serra Juhé, Clara, 1984-; Rodríguez Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2012)
    Background: Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly ...
  • Argente, Jesús; Flores, Raquel; Gutiérrez Arumí, Armand; Verma, Bhupendra; Martos Moreno, Gabriel Á; Cuscó, Ivon; Oghabian, Ali; Chowen, Julie A.; Frilander, Mikko J; Pérez Jurado, Luis Alberto (Wiley-VCH Verlag, 2014)
    The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused ...
  • Serra Juhé, Clara, 1984-; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez Jurado, Luis Alberto (Taylor & Francis (Routledge), 2015)
    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes ...
  • Homs, Aïda; Codina Solà, Marta; Rodríguez Santiago, Benjamín; Villanueva, CM .; Monk, Dave; Cuscó, Ivon; 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 Solà, Marta; Rodríguez Santiago, Benjamín; Homs, Aïda; Santoyo, Javier; Rigau, Maria; Aznar Laín, Gemma; Campo Casanelles, Miguel del, 1966-; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez Arumí, Armand; Antiñolo, Guillermo; Pérez Jurado, Luis Alberto; Cuscó, Ivon (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 ...
  • Álvarez Iglesias, Vanesa; Mosquera Miguel, Ana; Cuscó, Ivon; Carracedo, Ángel; Pérez Jurado, Luis Alberto; Salas, Antonio (BioMed Central, 2011)
    Background: There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion ...