Publicaciones en colaboración con investigadores/as de Universidad de Valladolid (43)

2022

  1. Fatal Respiratory Failure in a Term Newborn Due to Non-previously Described Compound Heterozygous ABCA3 Mutations

    Journal of Neonatology, Vol. 36, Núm. 3, pp. 250-254

  2. Genetic profiles to identify talents in elite endurance athletes and professional football players

    PLoS ONE, Vol. 17, Núm. 9 September

  3. Pathophysiology of Age-Related Macular Degeneration: Implications for Treatment

    Ophthalmic Research, Vol. 65, Núm. 6, pp. 615-636

2021

  1. Genetic profile in genes associated with cardiorespiratory fitness in elite spanish male endurance athletes

    Genes, Vol. 12, Núm. 8

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

  2. Genotype scores in energy and iron-metabolising genes are higher in elite endurance athletes than in nonathlete controls

    Applied Physiology, Nutrition and Metabolism, Vol. 45, Núm. 11, pp. 1225-1231

2019

  1. CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA

    Journal of Headache and Pain, Vol. 20, Núm. 1

  2. Liver-Metabolizing Genes and Their Relationship to the Performance of Elite Spanish Male Endurance Athletes; a Prospective Transversal Study

    Sports Medicine - Open, Vol. 5, Núm. 1

  3. Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease

    Neurobiology of Aging, Vol. 84, pp. 238.e19-238.e24

2018

  1. Polymorphisms in receptors involved in opsonic and nonopsonic phagocytosis, and correlation with risk of infection in oncohematology patients

    Infection and Immunity, Vol. 86, Núm. 12

2017

  1. Neuropatía auditiva autosómica dominante y variante DIAPH3 (c.-173C>T)

    Acta Otorrinolaringologica Espanola, Vol. 68, Núm. 3, pp. 183-185

2016

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

    CASE REPORTS IN NEUROLOGICAL MEDICINE, Vol. 2016

2015

  1. 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

2014

  1. TLR2-TLR4/CD14 polymorphisms and predisposition to severe invasive infections by Neisseria meningitidis and Streptococcus pneumoniae

    Medicina Intensiva, Vol. 38, Núm. 6, pp. 356-362

2011

  1. El polimorfismo R753Q del toll-like receptor 2 se asocia a un aumento en el riesgo de sufrir endocarditis infecciosa

    Revista Espanola de Cardiologia, Vol. 64, Núm. 11, pp. 1056-1059

  2. Ética en investigación genética (2). Estudios de susceptibilidad

    Medicina Clinica, Vol. 137, Núm. 1, pp. 22-26

2010

  1. PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: A new mutation

    European Journal of Ophthalmology, Vol. 20, Núm. 4, pp. 724-732

2008

  1. ALOX5 promoter genotype and response to montelukast in moderate persistent asthma

    Respiratory Medicine, Vol. 102, Núm. 6, pp. 857-861

2006

  1. Cytokine gene polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy: A preliminary study

    Acta Ophthalmologica Scandinavica, Vol. 84, Núm. 3, pp. 309-313

  2. Enfermedades autosómicas recesivas con retraso mental

    Revista de Neurologia, Vol. 42, Núm. SUPPL.1