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

Volltext

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

Volltext

Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability von Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús

Volltext

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine von Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier

Volltext

Extreme Downregulation of Chromosome Y and Cancer Risk in Men von Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R

Volltext

NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders von Ruiz-Arenas, Carlos, Marín-Goñi, Irene, Wang, Liewei, Ochoa, Idoia, Pérez-Jurado, Luis A, Hernaez, Mikel

Volltext

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

Volltext

The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies von Earl, Julie, Rico, Daniel, Carrillo-de-Santa-Pau, Enrique, Rodríguez-Santiago, Benjamín, Méndez-Pertuz, Marinela, Auer, Herbert, Gómez, Gonzalo, Grossman, Herbert Barton, Pisano, David G, Schulz, Wolfgang A, Pérez-Jurado, Luis A, Carrato, Alfredo, Theodorescu, Dan, Chanock, Stephen, Valencia, Alfonso, Real, Francisco X

Volltext

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

Volltext

DNA methylation abnormalities in congenital heart disease von Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A

Volltext

Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family von Babiker, Amir, Al Noaim, Khalid, Al Swaid, Abdulrahman, Alfadhel, Majid, Deeb, Asma, Martín‐Rivada, Álvaro, Barrios, Vicente, Pérez‐Jurado, Luis A., Alfares, Ahmed, Al Alwan, Ibrahim, Argente, Jesús

Volltext

Mutational Mechanisms of Williams-Beuren Syndrome Deletions von Bayés, Mònica, Magano, Luis F., Rivera, Núria, Flores, Raquel, A. Pérez Jurado, Luis

Volltext

Genetic causes of proportionate short stature von Argente, Jesús, Pérez-Jurado, Luis A.

Volltext

Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry von Marcos, Josep, Renau, Nuria, Valverde, Olga, Aznar-Laín, Gemma, Gracia-Rubio, Irene, Gonzalez-Sepulveda, Marta, Pérez-Jurado, Luis Alberto, Ventura, Rosa, Segura, Jordi, Pozo, Oscar J.

Volltext

bigSCale: an analytical framework for big-scale single-cell data von Iacono, Giovanni, Mereu, Elisabetta, Guillaumet-Adkins, Amy, Corominas, Roser, Cuscó, Ivon, Rodríguez-Esteban, Gustavo, Gut, Marta, Pérez-Jurado, Luis Alberto, Gut, Ivo, Heyn, Holger

Volltext

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency von Argente, Jesús, Flores, Raquel, Gutiérrez‐Arumí, Armand, Verma, Bhupendra, Martos‐Moreno, Gabriel Á, Cuscó, Ivon, Oghabian, Ali, Chowen, Julie A, Frilander, Mikko J, Pérez‐Jurado, Luis A

Volltext

Macrocheilia as an Atypical Clinical Presentation of Capillary Malformation–Arteriovenous Malformation Type 2 von Rovira-López, Roger, Pérez-Jurado, Luis A, Pujol, Ramon M

Volltext

Potential adverse health effects of persistent organic pollutants on sea turtles: Evidences from a cross-sectional study on Cape Verde loggerhead sea turtles von Camacho, María, Luzardo, Octavio P., Boada, Luis D., López Jurado, Luis F., Medina, María, Zumbado, Manuel, Orós, Jorge

Volltext

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

Volltext

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data von González, Juan R, Rodríguez-Santiago, Benjamín, Cáceres, Alejandro, Pique-Regi, Roger, Rothman, Nathaniel, Chanock, Stephen J, Armengol, Lluís, Pérez-Jurado, Luis A

Volltext