Browsing by Author "Pérez Jurado, Luis Alberto"

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  • Awamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Nadif Kasri, Nael; Boronat i Llop, Susanna, 1965-; Ibáñez-Micó, Salvador; Cuesta Herraiz, Laura; Ferrer, Irene; Martínez Carrascal, Antonio; Pérez Jurado, Luis Alberto; Aznar Laín, Gemma; Ortigoza Escobar, Juan Darío; de Vries, Bert B. A.; Koolen, David A.; Weksberg, Rosanna (Nature Research, 2024)
    Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Palacios Verdú, María Gabriela (Universitat Pompeu Fabra, 2015-12-07)
    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 ...
  • 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 ...
  • Gutiérrez Arumi, Armand (Universitat Pompeu Fabra, 2017-10-31)
    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 ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Villa Marcos, Olaya (Universitat Pompeu Fabra, 2011-04-12)
    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, 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 ...
  • Costa Roger, Mar (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. ...
  • 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 ...
  • 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). ...
  • 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 ...
  • 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 ...
  • Schlüter, Agatha; Bullich, Gemma; Beltran, Sergi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968- (BioMed Central, 2023)
    Background: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms ...
  • Pérez Jurado, Luis Alberto; Cáceres, Alejandro; Balagué-Dobón, Laura; Esko, Tõnu; López de Heredia, Miguel de; Quintela Garcia, Ines; Cruz, Raquel; Lapunzina, Pablo Daniel; Carracedo, Ángel; SCOURGE Cohort Group; González, Juan Ramón (Nature Research, 2024)
    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially ...

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