Publicacions en col·laboració amb investigadors/es de Hospital Infantil Universitario Niño Jesus de Madrid (17)

2021

  1. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

    HemaSphere, Vol. 5, Núm. 4

  2. Retinal molecular changes are associated with neuroinflammation and loss of rgcs in an experimental model of glaucoma

    International Journal of Molecular Sciences, Vol. 22, Núm. 4, pp. 1-29

2020

  1. Abstinent patients with alcohol use disorders show an altered plasma cytokine profile: Identification of both interleukin 6 and interleukin 17A as potential biomarkers of consumption and comorbid liver and pancreatic diseases

    Journal of Psychopharmacology, Vol. 34, Núm. 11, pp. 1250-1260

  2. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  3. Impaired condensin complex and Aurora B kinase underlie mitotic and chromosomal defects in hyperdiploid B-cell ALL

    Blood, Vol. 136, Núm. 3, pp. 313-327

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia

    Cell Stem Cell, Vol. 25, Núm. 5, pp. 607-621.e7

  3. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

    Journal of Experimental Medicine, Vol. 216, Núm. 2, pp. 407-418

2018

  1. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

2017

  1. Administration of a leptin antagonist during the neonatal leptin surge induces alterations in the redox and inflammatory state in peripubertal /adolescent rats

    Molecular and Cellular Endocrinology, Vol. 454, pp. 125-134

  2. Evaluation of plasma cytokines in patients with cocaine use disorders in abstinence identifies transforming growth factor alpha (tgfα) as a potential biomarker of consumption and dual diagnosis

    PeerJ, Vol. 2017, Núm. 10

  3. Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients

    EMBO Molecular Medicine, Vol. 9, Núm. 11, pp. 1574-1588

2016

  1. Blockage of neonatal leptin signaling induces changes in the hypothalamus associated with delayed pubertal onset and modifications in neuropeptide expression during adulthood in male rats

    Peptides, Vol. 86, pp. 63-71

  2. Effects of adolescent intermittent alcohol exposure on the expression of endocannabinoid signaling-related proteins in the spleen of young adult rats

    PLoS ONE, Vol. 11, Núm. 9

2013

  1. PLP1 gene analysis in 88 patients with leukodystrophy

    Clinical Genetics, Vol. 84, Núm. 6, pp. 566-571

2011

  1. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

    European Journal of Human Genetics, Vol. 19, Núm. 12, pp. 1218-1225

  2. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

    Human Molecular Genetics, Vol. 20, Núm. 8, pp. 1547-1559