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 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 2017

Co-Treatment With Verapamil and Curcumin Attenuates the Behavioral Alterations Observed in Williams–Beuren Syndrome Mice by Regulation of MAPK Pathway and Microglia Overexpression...

por Ortiz-Romero, Paula, González-Simón, Alejandro, Egea, Gustavo, Pérez-Jurado, Luis A., Campuzano, Victoria
Publicado 2021

DNA methylation abnormalities in congenital heart disease

por Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Publicado 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 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 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 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 2020

The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams–Beuren Syndrome Mouse Model

por Abdalla, Noura, Ortiz-Romero, Paula, Rodriguez-Rovira, Isaac, Pérez-Jurado, Luis A., Egea, Gustavo, Campuzano, Victoria
Publicado 2023

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 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 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 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 2020

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 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 2012

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 2018

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

por González, Juan R, Rodríguez-Santiago, Benjamín, Cáceres, Alejandro, Pique-Regi, Roger, Rothman, Nathaniel, Chanock, Stephen J, Armengol, Lluís, Pérez-Jurado, Luis A
Publicado 2011

Heterozygous rare genetic variants in non-syndromic early-onset obesity

por Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Bou de Pieri, Francesc, Flores, Raquel, Chowen, Julie A., Pérez-Jurado, Luis A., Argente, Jesús
Publicado 2019

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

por Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Bou de Pieri, Francesc, Flores, Raquel, González, Juan R., Rodríguez-Santiago, Benjamín, Argente, Jesús, Pérez-Jurado, Luis A.
Publicado 2017

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

por Cuscó, Ivon, Medrano, Andrés, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fátima, Villa, Olaya, González, Eva, Rodríguez-Santiago, Benjamín, Vilella, Elisabet, Del Campo, Miguel, Pérez-Jurado, Luis A.
Publicado 2009