Browsing by Author "Pérez Jurado, Luis Alberto"

Sort by: Order: Results:

  • 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 ...
  • 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 ...
  • Ortiz Romero, Paula; Borralleras Fumaña, Cristina, 1988-; Bosch Morató, Mònica, 1986-; Guivernau Almazán, Biuse, 1988-; Albericio, Guillermo; Muñoz López, Francisco José, 1964-; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (Public Library of Science (PLoS), 2018)
    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. The complete deletion (CD) mouse model mimics the most common deletion found in ...
  • 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 ...
  • González Ruiz, Juan Ramón; Rodríguez Santiago, Benjamín; Cáceres, Alejandro; Pique Regi, Roger; Rothman, Nathaniel; Chanock, Stephen J.; Armengol i Dulcet, Lluís; Pérez Jurado, Luis Alberto (BioMed Central, 2011)
    Background: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly ...
  • Machiela, Mitchell J.; Real, Francisco X.; Rodriguez-Santiago, Benjamin; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Nature Publishing Group, 2016)
    To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected ...
  • Urreizti, Roser; López Martín, Estrella; Martínez Monseny, Antonio Federico; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez Jurado, Luis Alberto; Serrano, Mercedes L.; Natera de Benito, Daniel; Martínez Delgado, Beatriz; Posada de la Paz, Manuel; Alonso, Javier; Marín Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo Sánchez, Eva; Balcells, Susana (BioMed Central, 2020)
    Background: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and ...
  • Homs Raubert, Aïda, 1983-; Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Villanueva, Cristina M.; Monk, Dave; Cuscó Martí, Ivon, 1973-; Pérez Jurado, Luis Alberto (Nature Publishing Group, 2016)
    Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is ...
  • Solé, Xavier; Hernández, Pilar; López de Heredia, Miguel de; Armengol i Dulcet, Lluís; Rodríguez Santiago, Benjamín; Gómez, Laia; Maxwell, Christopher A.; Aguilo, Fernando; Condom, Enric; Abril, Jesús; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Nunes, Virginia; Capellá, Gabriel; Gruber, Stephen B.; Moreno, Víctor; Pujana, Miguel Angel (BioMed Central, 2008)
    Background: Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects of this type of variation may be important when considering susceptibility to common genetic ...
  • Codina i Solà, Marta, 1988-; Costa-Roger, Mar; Pérez García, Débora, 1985-; Flores Peirats, Raquel; Palacios Verdú, María Gabriela, 1983-; Cuscó Martí, Ivon, 1973-; Pérez Jurado, Luis Alberto (BMJ Publishing Group, 2019)
    Background: The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). ...
  • MacLennan, Alastair H.; Pérez Jurado, Luis Alberto; Gecz, Jozef (SAGE Publications, 2019)
    High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that ...
  • Codina i Solà, Marta, 1988- (Universitat Pompeu Fabra, 2016-07-14)
    The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific ...
  • Serra Juhé, Clara, 1984- (Universitat Pompeu Fabra, 2012-10-20)
    Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information ...
  • Marenne, Gaëlle; Real, Francisco X.; Rothman, Nathaniel; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Kogevinas, Manolis; García Closas, Montserrat; Silverman, Debra T.; Chanock, Stephen J.; Génin, Emmanuelle; Malats i Riera, Núria (BioMed Central, 2012)
    BACKGROUND: Structural variations such as copy number variants (CNV) influence the expression of different phenotypic traits. Algorithms to identify CNVs through SNP-array platforms are available. The ability to evaluate ...
  • Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc; Flores, Raquel; Chowen, Julie A.; Pérez Jurado, Luis Alberto; Argente, Jesús (Nature Research, 2019)
    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 ...
  • 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 ...
  • Borralleras Fumaña, Cristina, 1988-; Sahún, Ignasi; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (Nature Publishing Group, 2015)
    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral ...