CIRUGÍA Y SUS ESPECIALIDADES
Departamento
José Antonio
López Escámez
Publicaciones en las que colabora con José Antonio López Escámez (74)
2024
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A Systematic Review on Heritability of Sudden Sensorineural Hearing Loss
Laryngoscope
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A Systematic Review on the Genetic Contribution to Tinnitus
JARO - Journal of the Association for Research in Otolaryngology, Vol. 25, Núm. 1, pp. 13-33
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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Human Genetics
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Cognitive Screening and Hearing Assessment in Patients With Chronic Tinnitus
Clinical and Experimental Otorhinolaryngology, Vol. 17, Núm. 1, pp. 15-25
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Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease
Genes and Immunity, Vol. 25, Núm. 2, pp. 124-131
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Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants
European Archives of Oto-Rhino-Laryngology
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Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease
Genes, Vol. 15, Núm. 1
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases
Journal of Biomedical Informatics, Vol. 143
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Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease
Cells, Vol. 12, Núm. 7
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Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction
Genes, Vol. 14, Núm. 4
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The statistical analysis plan for the unification of treatments and interventions for tinnitus patients randomized clinical trial (UNITI-RCT)
Trials, Vol. 24, Núm. 1
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Types of Inheritance and Genes Associated with Familial Meniere Disease
JARO - Journal of the Association for Research in Otolaryngology, Vol. 24, Núm. 3, pp. 269-279
2022
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A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
European Journal of Human Genetics, Vol. 30, Núm. 11, pp. 1301-1305
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Anatomía y fisiología de la faringe
Manual de otorrinolaringología (Avicam), pp. 299-306
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Balance Disorders Including Ménière’s Disease
Comprehensive Pharmacology (Elsevier), pp. 770-782
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Clasificación del síndrome vestibular. Síndrome vestibular agudo. Neuritis vestibular y otros síndromes
Manual de otorrinolaringología (Avicam), pp. 153-162
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Defective α‐tectorin may involve tectorial membrane in familial Meniere disease
Clinical and Translational Medicine
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El sistema vestibular. Evaluación del paciente con vértigo. Historia clínica. Exploración. Nistagmo. Prueba del impulso cefálico. Clasificación de pacientes con síntomas vestibulares
Manual de otorrinolaringología (Avicam), pp. 143-152
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Enfermedad de Meniere. Migraña vestibular
Manual de otorrinolaringología (Avicam), pp. 171-180