Browsing by Author "Cuscó Martí, Ivon, 1973-"

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  • Cuscó Martí, Ivon, 1973-; 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 ...
  • Iacono, Giovanni; Mereu, Elisabetta; Guillaumet-Adkins, Amy; Corominas, Roser; Cuscó Martí, Ivon, 1973-; Rodríguez Esteban, Gustavo; Gut, Marta; Pérez Jurado, Luis Alberto; Gut, Ivo Glynne; Heyn, Holger (Cold Spring Harbor Laboratory Press (CSHL Press), 2018)
    Single-cell RNA sequencing (scRNA-seq) has significantly deepened our insights into complex tissues, with the latest techniques capable of processing tens of thousands of cells simultaneously. Analyzing increasing numbers ...
  • Serra Juhé, Clara, 1984-; Rodríguez Santiago, Benjamín; Cuscó Martí, Ivon, 1973-; 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 Arumi, Armand, 1980-; Verma, Bhupendra; Martos Moreno, Gabriel A.; Cuscó Martí, Ivon, 1973-; 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 Martí, Ivon, 1973-; Homs Raubert, Aïda, 1983-; 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 Raubert, Aïda, 1983- (Universitat Pompeu Fabra, 2015-09-15)
    The aetiology of autism spectrum disorders (ASD), a group of neurodevelopmental conditions with early onset, characterized by social and communication impairment and restricted interests, is unknown in about a third of the ...
  • 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 ...
  • Álvarez Iglesias, Vanesa; Mosquera Miguel, Ana; Cuscó Martí, Ivon, 1973-; 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 ...