Browsing by Author "Flores, Raquel"

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  • Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
    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 ...
  • DNA methylation abnormalities in congenital heart disease
    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 ...
  • Heterozygous rare genetic variants in non-syndromic early-onset obesity
    Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc, 1992-; Flores, Raquel; Chowen, Julie A.; Pérez Jurado, Luis Alberto; Argente, Jesús (Nature Research, 2020)
    BACKGROUND: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe ...
  • Metabolic abnormalities in Williams-Beuren syndrome
    Palacios Verdú, María Gabriela, 1983-; Segura Puimedon, Maria, 1985-; Borralleras Fumaña, Cristina, 1988-; Flores, Raquel; Campo Casanelles, Miguel del, 1966-; Campuzano Uceda, María Victoria; Pérez Jurado, Luis Alberto (BMJ, 2015)
    BACKGROUND: Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic ...

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