CIRUGÍA Y SUS ESPECIALIDADES
Departamento
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (17)
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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Clinical practice guideline on the management of vestibular schwannoma
Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128
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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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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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Balance Disorders Including Ménière’s Disease
Comprehensive Pharmacology (Elsevier), pp. 770-782
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Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
npj Genomic Medicine, Vol. 7, Núm. 1
2021
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
2008
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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
Human Mutation, Vol. 29, Núm. 6, pp. 823-831