A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

por Arostegui, JI, Rabionet, R, Remesal, A, Mensa-Vilaro, A, Murias, S, Alcobendas, R, Gonzalez-Roca, E, Dreschsel, O, Ruiz-Ortiz, E, Puig, A, Comas, D, Ossowski, S, Yagüe, J, Estivill, X, Merino, R
Publicado 2015

Dose and time effects of solar‐simulated ultraviolet radiation on the in vivo human skin transcriptome

por Bustamante, M., Hernandez‐Ferrer, C., Tewari, A., Sarria, Y., Harrison, G.I., Puigdecanet, E., Nonell, L., Kang, W., Friedländer, M.R., Estivill, X., González, J.R., Nieuwenhuijsen, M., Young, A.R.
Publicado 2019

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

por Madrigal, I, Rodríguez-Revenga, L, Armengol, L, González, E, Rodriguez, B, Badenas, C, Sánchez, A, Martínez, F, Guitart, M, Fernández, I, Arranz, JA, Tejada, MI, Pérez-Jurado, LA, Estivill, X, Milà, M
Publicado 2007

Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

por Costas, J, Carrera, N, Alonso, P, Gurriarán, X, Segalàs, C, Real, E, López-Solà, C, Mas, S, Gassó, P, Domènech, L, Morell, M, Quintela, I, Lázaro, L, Menchón, J M, Estivill, X, Carracedo, Á
Publicado 2016

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

por Bassaganyas, L, Beà, S, Escaramís, G, Tornador, C, Salaverria, I, Zapata, L, Drechsel, O, Ferreira, P G, Rodriguez-Santiago, B, Tubio, J M C, Navarro, A, Martín-García, D, López, C, Martínez-Trillos, A, López-Guillermo, A, Gut, M, Ossowski, S, López-Otín, C, Campo, E, Estivill, X
Publicado 2013

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

por Bassaganyas, L, Beà, S, Escaramís, G, Tornador, C, Salaverria, I, Zapata, L, Drechsel, O, Ferreira, P G, Rodriguez-Santiago, B, Tubio, J M C, Navarro, A, Martín-García, D, López, C, Martínez-Trillos, A, López-Guillermo, A, Gut, M, Ossowski, S, López-Otín, C, Campo, E, Estivill, X
Publicado 2015