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Page 1
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. ...They range from lesions of single tissues or s …
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessi …
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Acharya A, Schrauwen I, Leal SM. Acharya A, et al. Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 Jul 22. Hum Genet. 2022. PMID: 34291353 Free PMC article. Review.
Hearing impairment (HI) is one of the most common sensory disabilities with exceptionally high genetic heterogeneity. Of genetic HI cases, 30% are syndromic and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to autosomal recessive (A …
Hearing impairment (HI) is one of the most common sensory disabilities with exceptionally high genetic heterogeneity. Of genetic HI cases, …
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
Nickel R, Forge A. Nickel R, et al. Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: 10.1097/MOO.0b013e32830e20b0. Curr Opin Otolaryngol Head Neck Surg. 2008. PMID: 18797288 Review.
PURPOSE OF REVIEW: Mutations in GJB2 and GJB6, the genes encoding the gap-junction proteins connexin 26 and connexin 30, are the most common cause of autosomal recessive nonsyndromic deafness in many populations across the world. ...
PURPOSE OF REVIEW: Mutations in GJB2 and GJB6, the genes encoding the gap-junction proteins connexin 26 and connexin 30, are the most …
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Lebeko K, Bosch J, Noubiap JJ, Dandara C, Wonkam A. Lebeko K, et al. Pan Afr Med J. 2015 Apr 17;20:383. doi: 10.11604/pamj.2015.20.383.5230. eCollection 2015. Pan Afr Med J. 2015. PMID: 26185573 Free PMC article. Review.
Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other 30-50% is attributed to genetic factors. Nonsyndromic hearing loss is the most common form of hearing loss accounting for up to 70% of cases. T …
Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other 30-50% is attributed to …