Browsing by Author "Segura Puimedon, Maria, 1985-"

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  • Lucena, Jaume; Pezzi, Susana; Aso Pérez, Ester; Valero, Maria C.; Carreiro, Candelas; Dubus, Pierre; Sampaio, Adriana; Segura Puimedon, Maria, 1985-; Barthelemy, Isabel; Zindel, Marc Y.; Sousa, Nuno; Barbero, José L.; Maldonado, Rafael, 1961-; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (BioMed Central, 2010)
    Background: GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental ...
  • 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 ...
  • Campuzano Uceda, María Victoria; Segura Puimedon, Maria, 1985-; Terrado, Verena; Sánchez Rodríguez, Carolina; Coustets, Mathilde; Menacho Márquez, Mauricio; Nevado, Julián; Francke, Uta; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2012)
    A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular ...
  • Segura Puimedon, Maria, 1985- (Universitat Pompeu Fabra, 2012-11-20)
    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the common deletion of 26-28 contiguous genes in the 7q11.23 region, which poses difficulties to the establishment of genotype-phenotype correlations. ...