Publications (62) Publications de JUAN JOSE TELLERIA ORRIOLS

2024

  1. Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

2022

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

    PLoS ONE, Vol. 17, Núm. 9 September

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

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

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. 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. 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

  2. Importancia de las pruebas genéticas en la hipoacusia infantil

    Revista ORL, Vol. 6, pp. 19-30

  3. Nonvascular post–liver transplantation complications: From us screening to crosssectional and interventional imaging

    Radiographics, Vol. 35, Núm. 1, pp. 87-104

2014

  1. Nontraumatic acute aortic emergencies: Part 1, acute aortic syndrome

    American Journal of Roentgenology, Vol. 202, Núm. 3, pp. 656-665

  2. Nontraumatic acute aortic emergencies: Part 2, pre-and postsurgical complications related to aortic aneurysm in the emergency clinical setting

    American Journal of Roentgenology, Vol. 202, Núm. 3, pp. 666-674

  3. 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