Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., Berry, J. G., Harper, K., MacLennan, A. H., Gecz, J.
Published in Npj genomic medicine (16.09.2021)
Published in Npj genomic medicine (16.09.2021)
Get full text
Journal Article
Clinical implication of FMR1 intermediate alleles in a Spanish population
Alvarez‐Mora, M.I., Madrigal, I., Martinez, F., Tejada, M.‐I., Izquierdo‐Alvarez, S., Sanchez‐Villar de Saz, P., Caro‐Llopis, A., Villate, O., Rodríguez‐Santiago, B., Pérez Jurado, L.A., Rodriguez‐Revenga, L., Milà, M.
Published in Clinical genetics (01.07.2018)
Published in Clinical genetics (01.07.2018)
Get full text
Journal Article
A Duplicated Gene in the Breakpoint Regions of the 7q11.23 Williams-Beuren Syndrome Deletion Encodes the Initiator Binding Protein TFII-I and BAP-135, a Phosphorylation Target of BTK
Jurado, Luis A. Pérez, Wang, Yu-Ker, Peoples, Risa, Coloma, Antonio, Cruces, Jesús, Francke, Uta
Published in Human molecular genetics (01.03.1998)
Published in Human molecular genetics (01.03.1998)
Get full text
Journal Article
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile
Antonell, A, Del Campo, M, Magano, L F, Kaufmann, L, Martínez de la Iglesia, J, Gallastegui, F, Flores, R, Schweigmann, U, Fauth, C, Kotzot, D, Pérez-Jurado, L A
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
Get full text
Journal Article
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
Madrigal, I, Rodríguez-Revenga, L, Armengol, L, González, E, Rodriguez, B, Badenas, C, Sánchez, A, Martínez, F, Guitart, M, Fernández, I, Arranz, J A, Tejada, Mi, Pérez-Jurado, L A, Estivill, X, Milà, M
Published in BMC genomics (29.11.2007)
Published in BMC genomics (29.11.2007)
Get full text
Journal Article
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia
Rodríguez-Santiago, B, Brunet, A, Sobrino, B, Serra-Juhé, C, Flores, R, Armengol, Ll, Vilella, E, Gabau, E, Guitart, M, Guillamat, R, Martorell, L, Valero, J, Gutiérrez-Zotes, A, Labad, A, Carracedo, A, Estivill, X, Pérez-Jurado, L A
Published in Molecular psychiatry (01.10.2010)
Published in Molecular psychiatry (01.10.2010)
Get full text
Journal Article
MAPT gene duplications are not a cause of frontotemporal lobar degeneration
Lladó, A., Rodríguez-Santiago, B., Antonell, A., Sánchez-Valle, R., Molinuevo, J.L., Reñé, R., Pérez-Jurado, L.A.
Published in Neuroscience letters (31.08.2007)
Published in Neuroscience letters (31.08.2007)
Get full text
Journal Article
Lateral preference in Williams–Beuren syndrome is associated with cognition and language
Pérez-García, D., Flores, R., Brun-Gasca, C., Pérez-Jurado, L. A.
Published in European child & adolescent psychiatry (01.09.2015)
Published in European child & adolescent psychiatry (01.09.2015)
Get full text
Journal Article
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology
Pérez-García, D., Granero, R., Gallastegui, F., Pérez-Jurado, L.A., Brun-Gasca, C.
Published in Research in developmental disabilities (01.03.2011)
Published in Research in developmental disabilities (01.03.2011)
Get full text
Journal Article
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
Bijlsma, E.K, Gijsbers, A.C.J, Schuurs-Hoeijmakers, J.H.M, van Haeringen, A, Fransen van de Putte, D.E, Anderlid, B.-M, Lundin, J, Lapunzina, P, Pérez Jurado, L.A, Delle Chiaie, B, Loeys, B, Menten, B, Oostra, A, Verhelst, H, Amor, D.J, Bruno, D.L, van Essen, A.J, Hordijk, R, Sikkema-Raddatz, B, Verbruggen, K.T, Jongmans, M.C.J, Pfundt, R, Reeser, H.M, Breuning, M.H, Ruivenkamp, C.A.L
Published in European journal of medical genetics (01.03.2009)
Published in European journal of medical genetics (01.03.2009)
Get full text
Journal Article
Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
Kuebler, B., Aran, B., Flores, R., Pérez-Jurado, L.A., Veiga, A., Corominas, R., Cuscó, I.
Published in Stem cell research (01.12.2020)
Published in Stem cell research (01.12.2020)
Get full text
Journal Article
Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome
Kuebler, B., Aran, B., Flores, R., Pérez-Jurado, L.A., Veiga, A., Cuscó, I., Corominas, R.
Published in Stem cell research (01.12.2020)
Published in Stem cell research (01.12.2020)
Get full text
Journal Article
Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7
DE LA PUENTE, A, VELASCO, E, PEREZ JURADO, L. A, HERNANDEZ-CHICO, C, VAN DE RIJKE, F. M, SCHERER, S. W, RAAP, A. K, CRUCES, J
Published in Cytogenetic and genome research (01.01.1998)
Published in Cytogenetic and genome research (01.01.1998)
Get full text
Conference Proceeding
Journal Article
TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog
PEREZ JURADO, L. A, WANG, Y.-K, FRANCKE, U, CRUCES, J
Published in Cytogenetic and genome research (01.01.1999)
Published in Cytogenetic and genome research (01.01.1999)
Get full text
Journal Article
Blood cell chimerism in dizygotic twins conceived by in vitro fertilization
Martos-Moreno, G Á, Campos, C, Flores, R, Yturriaga, R, Pérez-Jurado, L A, Argente, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.10.2013)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.10.2013)
Get full text
Journal Article
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
WANG, Y.-K, HARRYMAN SAMOS, C, PEOPLES, R, PEREZ-JURADO, L. A, NUSSE, R, FRANCKE, U
Published in Human molecular genetics (01.03.1997)
Published in Human molecular genetics (01.03.1997)
Get full text
Journal Article