Publicacións (137) Publicacións nas que participase algún/ha investigador/a

2024

  1. A cohort analysis of familial partial lipodystrophy from two Mediterranean countries

    Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886

  2. Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

    Journal of Clinical Medicine, Vol. 13, Núm. 11

  3. Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency

    Clinical and Experimental Dermatology, Vol. 49, Núm. 5, pp. 516-518

  4. The activity of therapeutic molecular cluster Ag5 is dependent on oxygen level and HIF-1 mediated signalling

    Redox Biology, Vol. 76

  5. Yao syndrome: a clinical observation of a non-paradigmatic autoinflammatory disease

    JDDG - Journal of the German Society of Dermatology

2023

  1. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

    Frontiers in Endocrinology, Vol. 14

  2. Targets, Mechanisms and Cytotoxicity of Half-Sandwich Ir(III) Complexes Are Modulated by Structural Modifications on the Benzazole Ancillary Ligand

    Cancers, Vol. 15, Núm. 1

  3. Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

    International Journal of Dermatology

2022

  1. GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma

    Cancers, Vol. 14, Núm. 13

  2. Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process

    Endocrine Pathology, Vol. 33, Núm. 4, pp. 484-493

  3. Silver Clusters of Five Atoms as Highly Selective Antitumoral Agents Through Irreversible Oxidation of Thiols

    Advanced Functional Materials, Vol. 32, Núm. 29

2021

  1. A Simple Entropic-Driving Separation Procedure of Low-Size Silver Clusters, Through Interaction with DNA

    ChemistryOpen, Vol. 10, Núm. 8, pp. 760-763

  2. O-GlcNAcylated p53 in the liver modulates hepatic glucose production

    Nature Communications, Vol. 12, Núm. 1

  3. Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort

    Acta Ophthalmologica, Vol. 99, Núm. 7, pp. e1077-e1089

  4. The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study

    European Journal of Haematology, Vol. 106, Núm. 3, pp. 371-379

  5. Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant

    Journal of Clinical Medicine, Vol. 10, Núm. 7

2019

  1. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. New half-sandwich ruthenium(ii) complexes as proteosynthesis inhibitors in cancer cells

    Chemical Communications, Vol. 55, Núm. 8, pp. 1140-1143

  3. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2018

  1. Adult Sox2+ stem cell exhaustion in mice results in cellular senescence and premature aging

    Aging Cell, Vol. 17, Núm. 5