Zobrazeno 1 - 10
of 261
pro vyhledávání: '"genetic [Hearing]"'
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the p
Externí odkaz:
https://doaj.org/article/326290c3c54941beb850730f152f5e10
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 12, Pp 9413-9421 (2023)
This study aimed to investigate the transduction efficiency of triple adeno-associated virus (AAV) vectors in the cochleae of adult mice, focusing on large-gene-associated hearing loss (HL). Additionally, we sought to evaluate the feasibility of coch
Externí odkaz:
https://doaj.org/article/29cf7c29268d475ab23ea5801e185d32
Publikováno v:
Cell & Bioscience, Vol 13, Iss 1, Pp 1-25 (2023)
Abstract Hearing loss (HL) can be caused by a number of different genetic factors. Non-syndromic HL refers that HL occurs as an isolated symptom in an individual, whereas syndromic HL refers that HL is associated with other symptoms or abnormalities.
Externí odkaz:
https://doaj.org/article/ffaf8acd31bd4d1194b78cc06d58e9ae
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Congenital auditory impairment is a prevalent anomaly observed in approximately 2–3 per 1,000 infants. The consequences associated with hearing loss among children encompass the decline of verbal communication, linguistic skills, educational progre
Externí odkaz:
https://doaj.org/article/bb7d3ff2acbf493d8a7e64593a67510c
Autor:
Leonardo Franz, Alessandro Incognito, Chiara Gallo, Licia Turolla, Elisa Scquizzato, Roberta Cenedese, Alessandro Matarazzo, Daniel Savegnago, Paolo Zanatta, Elisabetta Genovese, Cosimo de Filippis, Gino Marioni
Publikováno v:
Children, Vol 11, Iss 2, p 194 (2024)
GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. The aim of this study was to i
Externí odkaz:
https://doaj.org/article/6dd873dbd8b044baa1abfacde7aab06f
Akademický článek
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Autor:
Alessandro Castiglione, Claes Möller
Publikováno v:
Audiology Research, Vol 12, Iss 1, Pp 42-65 (2022)
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Grae
Externí odkaz:
https://doaj.org/article/43517c6328ed43f88863cc42cee4031e
Akademický článek
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Publikováno v:
The Egyptian Journal of Otolaryngology, Vol 37, Iss 1, Pp 1-7 (2021)
Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of
Externí odkaz:
https://doaj.org/article/1eeb8231cc54408baae4b892a3718c38
Akademický článek
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