Browsing by Author "Pérez Jurado, Luis Alberto"

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  • A six-attribute classification of genetic mosaicism
    Martínez-Glez, Víctor; Tenorio Castaño, Jair; Nevado, Julián; Gordo, Gema; Rodríguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez Jurado, Luis Alberto; Ruiz Pérez, Víctor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo Daniel (Nature Research, 2020)
    Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural ...
  • A view on clinical genetics and genomics in Spain: of challenges and opportunities.
    Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo Daniel; Gozalo-Salellas, Ignasi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968- (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 ...
  • affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.
    Hernandez-Ferrer, Carles, 1987-; Quintela Garcia, Ines; Danielski, Katharina; Carracedo, Ángel; Pérez Jurado, Luis Alberto; González Ruiz, 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 ...
  • Analysis of the evolving clinical phenotype and molecular mechanisms in Williams-Beuren syndrome
    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 ...
  • Análisis de la comunicación intra-familiar de los resultados genéticos diagnósticos en cáncer hereditario
    Barrio, Cristina del; Campo Casanelles, Miguel del, 1966-; Pérez Jurado, Luis Alberto; Teulé, Alexandre; Iglesias, Sílvia; Salinas, Mònica; Blanco, Ignacio (Universidad Complutense de Madrid. Servicio de Publicaciones, 2017)
    A lo largo de la consulta de Asesoramiento Genético se hace un gran énfasis en la necesidad de comunicar la información del riesgo familiar y del estudio genético a los familiares. Además, los informes clínicos especifican ...
  • Ancestral genomic submicroscopic inversions of human genome and their relation with multifactorial human diseases
    Gutiérrez Arumi, Armand, 1980- (Universitat Pompeu Fabra, 2016-01-15)
    Significant advances were performed in mapping and characterizing different types of structural variation in the human genome such as point mutations, insertions, deletions, etc. Nevertheless, there is still an important ...
  • Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
    Cáceres, Alejandro; Esko, Tõnu; Pappa, Irene; Gutiérrez Arumi, Armand, 1980-; 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 Ruiz, 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, ...
  • Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
    Cuscó Martí, Ivon, 1973-; 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 ...
  • Behavioral profiles of children with Williams syndrome from Spain and the United States: cross-cultural similarities and differences
    Pérez García, Débora, 1985-; Brun i Gasca, Carme; Pérez Jurado, Luis Alberto; Mervis, Carolyn B. (American Association on Intellectual and Developmental Disabilities (AAIDD), 2017)
    To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to ...
  • bigSCale: an analytical framework for big-scale single-cell data
    Iacono, Giovanni; Mereu, Elisabetta; Guillaumet-Adkins, Amy; Corominas, Roser; Cuscó Martí, Ivon, 1973-; Rodríguez Esteban, Gustavo; Gut, Marta; Pérez Jurado, Luis Alberto; Gut, Ivo Glynne; Heyn, Holger (Cold Spring Harbor Laboratory Press (CSHL Press), 2018)
    Single-cell RNA sequencing (scRNA-seq) has significantly deepened our insights into complex tissues, with the latest techniques capable of processing tens of thousands of cells simultaneously. Analyzing increasing numbers ...
  • Caracterización de reordenamientos cromosómicos asociados a fenotipo
    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 ...
  • Caracterización molecular del síndrome de sotos y estudio de otras causas genéticas de hipercrecimiento
    Valle Domínguez, Jesús Manuel del (Universitat Pompeu Fabra, 2011-04-12)
    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 ...
  • Characterization of autism spectrum disorder caused by alterations in complex genomic regions : molecular and pathophysiological mechanisms
    Costa Roger, Mar, 1993- (2021-05-28)
    Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders, the etiology of which is unknown in the majority of cases. Little is known about complex genomic regions containing part of the missing heritability. ...
  • Characterization of large structural genetic mosaicism in human autosomes
    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 ...
  • CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
    Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel de; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat i Fonts, Cristina; Pérez Jurado, Luis Alberto; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo Daniel (Wiley, 2022)
    CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). ...
  • Circular DNA intermediates in the generation of large human segmental duplications
    Chicote, Javier U.; López Sánchez, Marcos, 1986-; Marquès i Bonet, Tomàs, 1975-; Callizo, José; Pérez Jurado, Luis Alberto; García-España, Antonio (BioMed Central, 2020)
    Background: Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic ...
  • Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
    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 ...
  • Co-treatment with verapamil and curcumin attenuates the behavioral alterations observed in Williams-Beuren syndrome mice by regulation of MAPK pathway and microglia overexpression
    Ortiz Romero, Paula, 1994-; González-Simón, Alejandro; Egea, Gustavo; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (Frontiers, 2021)
    Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a distinctive cognitive phenotype for which there are currently no effective treatments. We investigated the progression of behavioral ...
  • The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    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 ...
  • Contribution of rare copy number variants to isolated human malformations
    Serra Juhé, Clara, 1984-; Rodríguez Santiago, Benjamín; Cuscó Martí, Ivon, 1973-; 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 ...