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)
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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)
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Quimerismo hemático en gemelos dicigóticos concebidos por fertilización in vitro
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)
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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)
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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)
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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)
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Conference Proceeding
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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)
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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)
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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)
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Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann
Lapunzina Badía, P., del Campo Casanelles, M., Delicado Navarro, A., Fernández-Toral, J., García-Alix, A., García-Guereta, L., Pérez Jurado, L.A., Ramos Fuentes, F.J., Sánchez Díaz, A., Urioste Azcorra, M.
Published in Anales de pediatría (Barcelona, Spain : 2003) (2006)
Published in Anales de pediatría (Barcelona, Spain : 2003) (2006)
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Molecular Diagnosis and Endocrine Evaluation of a Patient with a Homozygous 7.0 kb Deletion of the Growth Hormone (GH) Gene Cluster: Response to Biosynthetic GH Therapy
Jurado, L.A. Pérez, Argente, J., Barrios, V., Pozo, J., Muñoz, M.T., Hernández, M., Francke, U.
Published in Journal of Pediatric Endocrinology and Metabolism (01.03.1997)
Published in Journal of Pediatric Endocrinology and Metabolism (01.03.1997)
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Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis
Pérez Jurado, L A, Phillips, 3rd, J A, Francke, U
Published in The journal of clinical endocrinology and metabolism (01.03.1994)
Published in The journal of clinical endocrinology and metabolism (01.03.1994)
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Journal Article
Simple method for cystic fibrosis carrier screening
Molina Cabañera, J.C., Perez Jurado, L.A., Raskin, S., Vicario, J.L., Balas Perez, A., Garcia Novo, M.D.
Published in The Lancet (British edition) (17.10.1992)
Published in The Lancet (British edition) (17.10.1992)
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