Visualitza per autor "Pérez Jurado, Luis Alberto"

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  • Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo Daniel; Gozalo-Salellas, Ignasi; Pérez Jurado, Luis Alberto; Pujol, Aurora (Willey, 2016)
    Historical and social perspectives, together with economic context, are essential to comprehend and appreciate the current status of any discipline. This is particularly true for fields relying on technological advances ...
  • Hernandez Ferrer, Carles; Quintela Garcia, Ines; Danielski, Katharina; Carracedo, Ángel; Pérez Jurado, Luis Alberto; González, Juan Ramón (BioMed Central , 2015)
    Background:The well-known Genome-Wide Association Studies (GWAS) had led to many scientific discoveriesusing SNP data. Even so, they were not able to explain the full heritability of complex diseases. Now, other ...
  • Palacios Verdú, María Gabriela, 1983- (Universitat Pompeu Fabra, 2015-10-19)
    Williams-Beuren syndrome is a neurocognitive disorder with multisystemic manifestations of variable expressivity caused by a 1.55-1.83 Mb at chromosomal band 7q11.23. In this thesis project we have characterized the 7q11.23 ...
  • Cáceres, Alejandro; Esko, Tõnu; Pappa, Irene; Gutiérrez Arumí, Armand; Lopez-Espinosa, Maria-José; Llop, Sabrina; Bustamante Pineda, Mariona; Tiemeier, Henning; Metspalu, Andres; Joshi, Peter K.; Wilsonx, James F.; Reina-Castillón, Judith; Shin, Jean; Pausova, Zdenka; Paus, Tomáš; Sunyer Deu, Jordi; Pérez Jurado, Luis Alberto; González, Juan Ramón (Public Library of Science (PLoS) , 2016)
    The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, ...
  • Cuscó, Ivon; 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 ...
  • Villa Marcos, Olaya (Universitat Pompeu Fabra, 2009-10-27)
    El establecimiento de correlaciones entre fenotipo y genotipo es uno de los principales objetivos de la genética. La obtención de un diagnóstico ajustado facilita el manejo clínico del paciente, así como poder ofrecer un ...
  • Valle Domínguez, Jesús Manuel del (Universitat Pompeu Fabra, 2008-07-14)
    En la presente tesis doctoral se ha realizado un estudio de investigación encaminado a definir los genes responsables que causan hipercrecimiento en humanos, así como la identificación y caracterización de las mutaciones ...
  • Machiela, Mitchell J.; Real, Francisco X.; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Elsevier, 2015)
    Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a ...
  • Armengol i Dulcet, Lluís; Nevado, Julián; Serra Juhé, Clara, 1984-; Mediano, Carmen; García Santiago, Fe Amalia; García Aragonés, Manel; Villa Marcos, Olaya; Mansilla, Elena; Preciado, Cristina; Fernández, Luis; Mori, María Ángeles; García Pérez, Lidia; Lapunzina, Pablo Daniel; Pérez Jurado, Luis Alberto (Springer, 2012)
    Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently ...
  • Sailani, M. Reza; Rabionet, Kelly; Serra Juhé, Clara, 1984-; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Antonarakis, Stylianos E. (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic ...
  • Serra Juhé, Clara, 1984-; Rodríguez Santiago, Benjamín; Cuscó, Ivon; 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 ...
  • Borralleras Fumaña, Cristina, 1988- (Universitat Pompeu Fabra, 2016-07-15)
    Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of 26-28 contiguous genes in the 7q11.23 region. So far, a great deal of attention has been focused on its unique and ...
  • Argente, Jesús; Flores, Raquel; Gutiérrez Arumí, Armand; Verma, Bhupendra; Martos Moreno, Gabriel Á; Cuscó, Ivon; 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 ...
  • Vilardell Nogales, Mireia (Universitat Pompeu Fabra, 2008-07-01)
    El descubrimiento de las duplicaciones segmentarias (DS) o Low Copy Repeats (LCRs) ha permitido definir nuevos mecanismos evolutivos mediados, en gran parte, por duplicación génica. Las DS son responsables de reordenamientos ...
  • Serra Juhé, Clara, 1984-; Cuscó, Ivon; Homs, Aïda; 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 ...
  • Pérez Jurado, Luis Alberto; Fernández, Agustín F; Esteller, Manel (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
    Most of the studies characterizing DNA methylation patterns have been restricted to particular genomic loci in a limited number of human samples and pathological conditions. Herein, we present a compromise between an ...
  • 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 ...
  • Earl, Julie; Rico, Daniel; Carrillo, Enrique; Rodríguez Santiago, Benjamín; Méndez Pertuz, Marinela; Auer, Herbert; Gómez, Gonzalo; Barton Grossman, Herbert; Pisano, David G.; Schulz, Wolfgang; Pérez Jurado, Luis Alberto; Carrato, Alfredo; Theodorescu, Dan; Chanock, Stephen J.; Valencia, Alfonso; Real, Francisco X. (BioMed Central, 2015)
    Following the publication of our recent article in BMC Genomics [1] a number of aspects were called to our attention. We have carefully reviewed the experiments reported in this manuscript, as well as additional data from ...
  • 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 ...
  • Antonell Boixader, Anna (Universitat Pompeu Fabra, 2006-04-20)
    En aquest treball es presenta l'evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23, implicada en la Síndrome de Williams-Beuren (SWB). S'ha datat l'aparició ...