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Genetic hearing impairment.
Ječmenica J, Bajec-Opančina A, Ječmenica D. Ječmenica J, et al. Childs Nerv Syst. 2015 Apr;31(4):515-9. doi: 10.1007/s00381-015-2628-3. Epub 2015 Feb 17. Childs Nerv Syst. 2015. PMID: 25686889 Review.
The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing
The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A large n …
Deafness genes.
Kitamura K, Takahashi K, Tamagawa Y, Noguchi Y, Kuroishikawa Y, Ishikawa K, Hagiwara H. Kitamura K, et al. J Med Dent Sci. 2000 Mar;47(1):1-11. J Med Dent Sci. 2000. PMID: 12162522 Review.
For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing loss, and in half of that number the loss is inherited. ...To date, 31 autosomal dominant, 28 autosomal
For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD, Acuña R, Figueroa V, Maripillan J, Nicholson B. Martínez AD, et al. Antioxid Redox Signal. 2009 Feb;11(2):309-22. doi: 10.1089/ars.2008.2138. Antioxid Redox Signal. 2009. PMID: 18837651 Free PMC article. Review.
The majority of these mutations are inherited in an autosomal recessive manner, but a few of them have been associated with dominantly inherited hearing loss. ...Finally, we propose that connexin channels (gap junctions and hemichannels) may be targets …
The majority of these mutations are inherited in an autosomal recessive manner, but a few of them have been associated with do …
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Mathur PD, Yang J. Mathur PD, et al. Hear Res. 2019 Apr;375:14-24. doi: 10.1016/j.heares.2019.02.007. Epub 2019 Feb 22. Hear Res. 2019. PMID: 30831381 Free PMC article. Review.
Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. However, mutations in most USH causative genes lead to other diseases, such as hearing loss only or vision loss only. ...This review focuses on an USH type …
Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. However, mutations in most USH causat …