Browsing by Author "Gabau, Elisabeth"

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  • Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
    Aguilera, Cinthia; Gabau, Elisabeth; Laurie, Steven, 1973-; Baena, Neus; Derdak, Sophia; Capdevila, Núria; Ramirez, Ariadna; Delgadillo, Veronica; García-Catalan, Maria Jesus; Brun i Gasca, Carme; Guitart, Miriam; Ruiz, Anna (Wiley, 2019)
    Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% ...
  • Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
    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 ...
  • Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.
    Bueno, Marta; Esteba-Castillo, Susanna; Novell, Ramon; Giménez Palop, Olga; Coronas, Ramon; Gabau, Elisabeth; Corripio, Raquel; Baena, Neus; Viñas-Jornet, Marina; Guitart, Miriam; Torrents-Rodas, David; Deus, Joan; Pujol Martí, Jesús, 1981-; Rigla, Mercedes; Caixàs, Assumpta (Public Library of Science (PLoS) , 2016)
    CONTEXT: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis. OBJECTIVES: To analyze the role of BDNF and ...
  • Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome
    Blanco Hinojo, Laura, 1981-; Pujol Martí, Jesús, 1981-; Esteba-Castillo, Susanna; Martínez-Vilavella, Gerard; Giménez Palop, Olga; Gabau, Elisabeth; Casamitjana, Laia; Deus, Joan; Novell, Ramon; Caixàs, Assumpta (Elsevier, 2019)
    OBJECTIVE: To investigate, based on a putative abnormal neural processing of disgusting signals in Prader Willi syndrome (PWS) patients, the brain response to visual representations of disgusting food in PWS using functional ...
  • New genes involved in Angelman syndrome-like: expanding the genetic spectrum
    Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafré, Ariadna; Brun i Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Laurie, Steven, 1973-; Derdak, Sophia; Padilla, Natàlia; Cruz, Xavier de la; Capdevila, Núria; Spataro, Nino, 1984-; Baena, Neus; Guitart, Miriam; Ruiz, Anna (Public Library of Science (PLoS), 2021)
    Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG ...