Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (13)

2024

  1. A personalized medicine approach identifies enasidenib as an efficient treatment for IDH2 mutant chondrosarcoma

    eBioMedicine, Vol. 102

  2. Clinical practice guideline on the management of vestibular schwannoma

    Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128

  3. Evaluating the QileX-RhE skin corrosion test for chemical subcategorization in accordance with OECD TG 431

    Toxicology in Vitro, Vol. 98

2023

  1. A multivariable prediction model for intra-amniotic infection in patients with preterm labor and intact membranes including a point of care system that measures amniotic fluid MMP-8

    Journal of Perinatal Medicine

  2. CRISPR/dCAS9-mediated DNA demethylation screen identifies functional epigenetic determinants of colorectal cancer

    Clinical Epigenetics, Vol. 15, Núm. 1

  3. Driving role of head and neck cancer cell secretome on the invasion of stromal fibroblasts: Mechanistic insights by phosphoproteomics

    Biomedicine and Pharmacotherapy, Vol. 158

  4. Improved Tool for Predicting Skin Irritation on Reconstructed Human Epidermis Models Based on Electrochemical Impedance Spectroscopy

    Biosensors, Vol. 13, Núm. 2

2021

  1. ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer

    Oncogene, Vol. 40, Núm. 16, pp. 2923-2935

2018

  1. Prognostic and predictive biomarkers for somatostatin analogs, peptide receptor radionuclide therapy and serotonin pathway targets in neuroendocrine tumours

    Cancer Treatment Reviews, Vol. 70, pp. 209-222

2012

  1. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma

    Clinical Cancer Research, Vol. 18, Núm. 10, pp. 2828-2837

2010

  1. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1

    Investigative Ophthalmology and Visual Science, Vol. 51, Núm. 5, pp. 2656-2663

  2. Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: New mutations and detection of mutational founder effects

    European Journal of Human Genetics, Vol. 18, Núm. 1, pp. 118-124

2009

  1. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 11, pp. 5107-5114