Publicaciones en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (16)

2024

  1. Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes

    Stem Cell Research and Therapy, Vol. 15, Núm. 1

2022

  1. Amyloid Beta Oligomers-Induced Ca2+ Entry Pathways: Role of Neuronal Networks, NMDA Receptors and Amyloid Channel Formation

    Biomedicines, Vol. 10, Núm. 5

  2. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

    Cancers, Vol. 14, Núm. 12

  3. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

  4. Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme

    Frontiers in Endocrinology, Vol. 13

  5. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2021

  1. Can the Cytokine Profile According to ABO Blood Groups Be Related to Worse Outcome in COVID-19 Patients? Yes, They Can

    Frontiers in Immunology, Vol. 12

  2. Differential Ca2+ responses and store operated Ca2+ entry in primary cells from human brain tumors

    Biochimica et Biophysica Acta - Molecular Cell Research, Vol. 1868, Núm. 8

  3. Rad51d aberrant splicing in breast cancer: Identification of splicing regulatory elements and minigene-based evaluation of 53 dna variants

    Cancers, Vol. 13, Núm. 11

2020

  1. Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene

    Cancers, Vol. 12, Núm. 12, pp. 1-21

2019

  1. Dynamic changes of the extracellular matrix during corneal wound healing

    Experimental Eye Research, Vol. 186

2016

  1. Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation

    CASE REPORTS IN NEUROLOGICAL MEDICINE, Vol. 2016

2015

  1. Hypoxic pulmonary vasoconstriction, carotid body function and erythropoietin production in adult rats perinatally exposed to hyperoxia

    Journal of Physiology, Vol. 593, Núm. 11, pp. 2459-2477

  2. Importance of genetic tests in childhood hearing loss

    REVISTA DE LA SOCIEDAD OTORRINOLARINGOLOGICA DE CASTILLA Y LEON CANTABRIA Y LA RIOJA, Vol. 6, pp. 19-30

2013

  1. Scientific Publications and Research Groups on Alcohol Consumption and Related Problems Worldwide: Authorship Analysis of Papers Indexed in PubMed and Scopus Databases (2005 to 2009)

    Alcoholism: Clinical and Experimental Research, Vol. 37, Núm. SUPPL.1

2009

  1. General redox environment and carotid body chemoreceptor function

    American Journal of Physiology - Cell Physiology, Vol. 296, Núm. 3