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

le Borralleras, Cristina, Sahun, Ignasi, Pérez-Jurado, Luis A, Campuzano, Victoria
Foilsithe in Mol Ther (2015)

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

le Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Foilsithe in 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

le Pérez-García, Débora, Brun-Gasca, Carme, Pérez-Jurado, Luis A., Mervis, Carolyn B.
Foilsithe in Am J Intellect Dev Disabil (2017)

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

le Argente, Jesús, Chowen, Julie A, Pérez‐Jurado, Luis A, Frystyk, Jan, Oxvig, Claus
Foilsithe in EMBO Mol Med (2017)

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

le Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R
Foilsithe in J Natl Cancer Inst (2020)

DNA methylation abnormalities in congenital heart disease

le Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Foilsithe in Epigenetics (2015)

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

le Pàmpols, Teresa, Ramos, Feliciano J., Lapunzina, Pablo, Gozalo‐Salellas, Ignasi, Pérez‐Jurado, Luis A., Pujol, Aurora
Foilsithe in Mol Genet Genomic Med (2016)

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

le Borralleras, Cristina, Mato, Susana, Amédée, Thierry, Matute, Carlos, Mulle, Christophe, Pérez-Jurado, Luis A., Campuzano, Victoria
Foilsithe in Mol Brain (2016)

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

le Martos-Moreno, Gabriel Á, Moeller, Ida Hatoum, Martín-Rivada, Álvaro, Pérez-Jurado, Luis A, Argente, Jesús
Foilsithe in J Endocr Soc (2020)

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

le González, Juan R., López-Sánchez, Marcos, Cáceres, Alejandro, Puig, Pere, Esko, Tonu, Pérez-Jurado, Luis A.
Foilsithe in BMC Bioinformatics (2020)

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

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

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

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

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

le Hernandez-Ferrer, Carles, Quintela Garcia, Ines, Danielski, Katharina, Carracedo, Ángel, Pérez-Jurado, Luis A., González, Juan R.
Foilsithe in BMC Bioinformatics (2015)

Contribution of Rare Copy Number Variants to Isolated Human Malformations

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

Circular DNA intermediates in the generation of large human segmental duplications

le Chicote, Javier U., López-Sánchez, Marcos, Marquès-Bonet, Tomàs, Callizo, José, Pérez-Jurado, Luis A., García-España, Antonio
Foilsithe in BMC Genomics (2020)

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

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

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

le Cuscó, Ivon, del Campo, Miguel, Vilardell, Mireia, González, Eva, Gener, Blanca, Galán, Enrique, Toledo, Laura, Pérez-Jurado, Luis A
Foilsithe 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

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

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

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

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

le Ortiz-Romero, Paula, Borralleras, Cristina, Bosch-Morató, Mònica, Guivernau, Biuse, Albericio, Guillermo, Muñoz, Francisco J., Pérez-Jurado, Luis A., Campuzano, Victoria
Foilsithe in PLoS One (2018)