Browsing by Author "Guitart, Miriam"

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  • Martin-Trujillo, Alex; Vidal Ocabo, Enrique; Monteagudo-Sánchez, Ana; Sanchez-Delgado, Marta; Moran, Sebastian; Hernández Mora, José Ramón; Heyn, Holger; Guitart, Miriam; Esteller, Manel; Monk, David (Nature Publishing Group, 2017)
    It has been postulated that imprinting aberrations are common in tumors. To understand the role of imprinting in cancer, we have characterized copy-number and methylation in over 280 cancer cell lines and confirm our ...
  • Gutierrez-Zotes, Alfonso; Gallardo-Pujol, David; Labad, Javier; Martín Santos, Rocío; García-Esteve, Luisa; Gelabert, Estel; Jover, Manuel; Guillamat, Roser; Mayoral Cleries, Fermín; Gornemann, Isolde; Canellas, Francesca; Gratacós Mayora, Mònica; Guitart, Miriam; Roca, Miquel; Costas, Javier; Ivorra, Jose Luis; Navinés, Ricard; Diego, Yolanda de; Vilella, Elisabet; Sanjuan, Julio (Fundación López Ibor, 2018)
    INTRODUCTION: The Edinburgh Postnatal Depression Scale (EPDS) is considered the gold standard in screening for postpartum depression. Although the Spanish version has been widely used, its factorial structure has not yet ...
  • 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% ...
  • 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 ...
  • 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 ...
  • Madrigal, Irene; Rodríguez Revenga, Laia; Armengol i Dulcet, Lluís; González, Eva; Rodríguez Santiago, Benjamín; Badenas, Celia; Sánchez Díaz, Aurora; Martínez, Francisco; Guitart, Miriam; Tejada Sánchez, Martha Isabel; Arranz, José Antonio; Tejada Minguez, Maria-Isabel; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Milà, Montserrat (BioMed Central, 2007)
    Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to ...

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