Publicaciones en colaboración con investigadoras/es de Hospital Universitario 12 de Octubre (17)

2023

  1. Mechanical stress confers nuclear and functional changes in derived leukemia cells from persistent confined migration

    Cellular and Molecular Life Sciences, Vol. 80, Núm. 11

2020

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

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

  2. Genetic manipulation of LKB1 elicits lethal metastatic prostate cancer

    The Journal of experimental medicine, Vol. 217, Núm. 6

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

2018

  1. Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer

    Nature Genetics, Vol. 50, Núm. 2, pp. 219-228

  2. Erratum to: Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer (Nature Genetics, (2018), 50, 2, (219-228), 10.1038/s41588-017-0026-3)

    Nature Genetics

  3. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Effects of HIV-1 gp41-Derived Virucidal Peptides on Virus-like Lipid Membranes

    Biophysical Journal, Vol. 113, Núm. 6, pp. 1301-1310

  2. The p.R56* mutation in PTHLH causes variable brachydactyly type E

    American Journal of Medical Genetics, Part A

2016

  1. CD163-macrophages are involved in rhabdomyolysis-induced kidney injury and may be detected by MRI with targeted gold-coated iron oxide nanoparticles

    Theranostics, Vol. 6, Núm. 6, pp. 896-914

2015

  1. Loss of Tribbles pseudokinase-3 promotes Akt-driven tumorigenesis via FOXO inactivation

    Cell Death and Differentiation, Vol. 22, Núm. 1, pp. 131-144

  2. TRIB3 suppresses tumorigenesis by controlling mTORC2/AKT/FOXO signaling

    Molecular and Cellular Oncology, Vol. 2, Núm. 3

2012

  1. Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review

    Clinical Dysmorphology, Vol. 21, Núm. 3, pp. 172-176

  2. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations

    American Journal of Medical Genetics, Part A

  2. Dihydrosphingomyelin impairs HIV-1 infection by rigidifying liquid-ordered membrane domains

    Chemistry and Biology, Vol. 17, Núm. 7, pp. 766-775

  3. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962