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

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

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

von Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Veröffentlicht 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

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

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

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

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

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

DNA methylation abnormalities in congenital heart disease

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Contribution of Rare Copy Number Variants to Isolated Human Malformations

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

Circular DNA intermediates in the generation of large human segmental duplications

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

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

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

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

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

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

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

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

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

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