Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Por Borralleras, Cristina, Sahun, Ignasi, Pérez-Jurado, Luis A, Campuzano, Victoria
Publicado no Mol Ther (2015)

Provision of Genetic Services for Autism and its Impact on Spanish Families

Por Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Publicado no J Autism Dev Disord (2017)

Behavioral Profiles of 6 – 14 Year-Old Children with Williams Syndrome from Spain and the United States: Cross-Cultural Similarities and Differences

Por Pérez-García, Débora, Brun-Gasca, Carme, Pérez-Jurado, Luis A., Mervis, Carolyn B.
Publicado no Am J Intellect Dev Disabil (2017)

One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

Por Argente, Jesús, Chowen, Julie A, Pérez‐Jurado, Luis A, Frystyk, Jan, Oxvig, Claus
Publicado no EMBO Mol Med (2017)

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

Por Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R
Publicado no J Natl Cancer Inst (2020)

DNA methylation abnormalities in congenital heart disease

Por Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Publicado no Epigenetics (2015)

A view on clinical genetics and genomics in Spain: of challenges and opportunities

Por Pàmpols, Teresa, Ramos, Feliciano J., Lapunzina, Pablo, Gozalo‐Salellas, Ignasi, Pérez‐Jurado, Luis A., Pujol, Aurora
Publicado no Mol Genet Genomic Med (2016)

Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome

Por Borralleras, Cristina, Mato, Susana, Amédée, Thierry, Matute, Carlos, Mulle, Christophe, Pérez-Jurado, Luis A., Campuzano, Victoria
Publicado no Mol Brain (2016)

OR22-05 Rare Biallelic Variants in Obesity-Related Genes in the Madrid Pediatric Obesity Cohort

Por Martos-Moreno, Gabriel Á, Moeller, Ida Hatoum, Martín-Rivada, Álvaro, Pérez-Jurado, Luis A, Argente, Jesús
Publicado no J Endocr Soc (2020)

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Por González, Juan R., López-Sánchez, Marcos, Cáceres, Alejandro, Puig, Pere, Esko, Tonu, Pérez-Jurado, Luis A.
Publicado no BMC Bioinformatics (2020)

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

Por Cuscó, Ivon, Corominas, Roser, Bayés, Mònica, Flores, Raquel, Rivera-Brugués, Núria, Campuzano, Victoria, Pérez-Jurado, Luis A.
Publicado em 2008

Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

Por Vilardell, Mireia, Rasche, Axel, Thormann, Anja, Maschke-Dutz, Elisabeth, Pérez-Jurado, Luis A, Lehrach, Hans, Herwig, Ralf
Publicado em 2011

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

Por Hernandez-Ferrer, Carles, Quintela Garcia, Ines, Danielski, Katharina, Carracedo, Ángel, Pérez-Jurado, Luis A., González, Juan R.
Publicado no BMC Bioinformatics (2015)

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Por Serra-Juhé, Clara, Rodríguez-Santiago, Benjamín, Cuscó, Ivon, Vendrell, Teresa, Camats, Núria, Torán, Núria, Pérez-Jurado, Luis A.
Publicado em 2012

Circular DNA intermediates in the generation of large human segmental duplications

Por Chicote, Javier U., López-Sánchez, Marcos, Marquès-Bonet, Tomàs, Callizo, José, Pérez-Jurado, Luis A., García-España, Antonio
Publicado no BMC Genomics (2020)

Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

Por Del Campo, Miguel, Antonell, Anna, Magano, Luis F., Muñoz, Francisco J., Flores, Raquel, Bayés, Mònica, Pérez Jurado, Luis A.
Publicado em 2006

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Por Cuscó, Ivon, del Campo, Miguel, Vilardell, Mireia, González, Eva, Gener, Blanca, Galán, Enrique, Toledo, Laura, Pérez-Jurado, Luis A
Publicado em 2008

A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding

Por Granell, Susana, Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Díaz, Francisca, Pérez-Jurado, Luis A., Baldini, Giulia, Argente, Jesús
Publicado em 2012

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

Por Scherer, Stephen W., Gripp, Karen W., Lucena, Jaume, Nicholson, Linda, Bonnefont, Jean-Paul, Pérez-Jurado, Luis A., Osborne, Lucy R.
Publicado em 2005

Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model

Por Ortiz-Romero, Paula, Borralleras, Cristina, Bosch-Morató, Mònica, Guivernau, Biuse, Albericio, Guillermo, Muñoz, Francisco J., Pérez-Jurado, Luis A., Campuzano, Victoria
Publicado no PLoS One (2018)