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Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
Yang T, Guo L, Wang L, Yu X. Yang T, et al. Adv Exp Med Biol. 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. Adv Exp Med Biol. 2019. PMID: 30915702 Review.
It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic hearing loss, which accounts for 70% of genetic hearing loss, approximately 80% of cases are autosomal re …
It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic …
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A, Ma X, Savoia A, Adelstein RS. Pecci A, et al. Gene. 2018 Jul 20;664:152-167. doi: 10.1016/j.gene.2018.04.048. Epub 2018 Apr 19. Gene. 2018. PMID: 29679756 Free PMC article. Review.
Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with other proteins. Variants of MYH9 cause an autosomal-dominant disorder, termed MYH9-related disease, and may be involved in other …
Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with oth …
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Finsterer J, Fellinger J. Finsterer J, et al. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. doi: 10.1016/j.ijporl.2004.12.002. Int J Pediatr Otorhinolaryngol. 2005. PMID: 15850684 Review.
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing loss. ...Postlingual nonsyndromic HIH usually follows an autosomal dominant trait. Of the 41 mutated genes that c …
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing …
[Genetics of congenital deafness].
Faundes V, Pardo RA, Castillo Taucher S. Faundes V, et al. Med Clin (Barc). 2012 Oct 20;139(10):446-51. doi: 10.1016/j.medcli.2012.02.014. Epub 2012 Apr 24. Med Clin (Barc). 2012. PMID: 22538062 Review. Spanish.
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ...More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss …
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ... …