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

gan Borralleras, Cristina, Sahun, Ignasi, Pérez-Jurado, Luis A, Campuzano, Victoria
Cyhoeddwyd yn Mol Ther (2015)

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

gan Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Cyhoeddwyd yn 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

gan Pérez-García, Débora, Brun-Gasca, Carme, Pérez-Jurado, Luis A., Mervis, Carolyn B.
Cyhoeddwyd yn Am J Intellect Dev Disabil (2017)

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

gan Argente, Jesús, Chowen, Julie A, Pérez‐Jurado, Luis A, Frystyk, Jan, Oxvig, Claus
Cyhoeddwyd yn EMBO Mol Med (2017)

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

gan Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R
Cyhoeddwyd yn J Natl Cancer Inst (2020)

DNA methylation abnormalities in congenital heart disease

gan Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Cyhoeddwyd yn Epigenetics (2015)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Contribution of Rare Copy Number Variants to Isolated Human Malformations

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

Circular DNA intermediates in the generation of large human segmental duplications

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

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

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

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

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

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

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

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

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

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