Publicaciones en colaboración con investigadores/as de Hospital Universitario de Valladolid (18)

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. Referral criteria to clinical genetics from primary care: Consensus document

    Atencion Primaria, Vol. 54, Núm. 12

2020

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

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

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. 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. Alteraciones orodentales en el Síndrome de Bloch-Sulzberger. Revisión bibliográfica

    Maxillaris: Actualidad profesional e industrial del sector dental, Año 21, Núm. 227, pp. 108-119

  2. 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

  2. Relevancia de las nuevas pruebas genéticas en el diagnóstico de la talla baja con dismorfias

    Medicina Clinica

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

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

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

2006

  1. Enfermedades autosómicas recesivas con retraso mental

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

  2. Tachyphylaxis to β2-agonists in Spanish asthmatic patients could be modulated by β2-adrenoceptor gene polymorphisms

    Respiratory Medicine, Vol. 100, Núm. 6, pp. 1072-1078

2004

  1. Neonatal hyperbilirrubinemia: A peculiar presentation of alpha-1-antitrypsin deficiency

    Acta Pediatrica Espanola, Vol. 62, Núm. 4, pp. 163-166

2002

  1. TNFα and LTα gene polymorphisms as additional markers of celiac disease susceptibility in a DQ2-positive population

    Immunogenetics, Vol. 54, Núm. 8, pp. 551-555

2001

  1. Antisilicone antibodies in patients with silicone implants for retinal detachment surgery

    Ophthalmic Research, Vol. 33, Núm. 2, pp. 87-90