Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Reis, Cláudia Sousa; Quental, Sofia; Fernandes, Susana; Castedo, Sérgio; Moura, Carla Pinto

Reis, Cláudia Sousa; Quental, Sofia; Fernandes, Susana; Castedo, Sérgio; Moura, Carla Pinto.

Affiliation

Reis CS; Faculty of Medicine, University of Porto, Porto, Portugal.
Quental S; IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.
Fernandes S; Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal.
Castedo S; Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal.
Moura CP; Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal.

Cytogenet Genome Res ; 162(1-2): 1-9, 2022.

Article in En | MEDLINE | ID: mdl-35580552

Subject(s)

Hearing Loss, Sensorineural; Cohort Studies; GTPase-Activating Proteins/genetics; Hearing Loss, Sensorineural/genetics; Humans; Mutation; Pedigree; Portugal; Exome Sequencing

Key words

Deafness; Genetic counselling; Genetics; Next-generation sequencing; Portuguese sample; Sensorineural hearing loss

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hearing Loss, Sensorineural Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Cytogenet Genome Res Journal subject: GENETICA Year: 2022 Type: Article Affiliation country: Portugal

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