We have collected the most relevant information on Audiological Features Of Gjb2 Connexin 26 Deafness. Open the URLs, which are collected below, and you will find all the info you are interested in.
Audiological features of GJB2 (connexin 26) deafness
https://pubmed.ncbi.nlm.nih.gov/15937416/
Objective: The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness Design: We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous …
Audiological Features of GJB2 (Connexin 26) Deafness : …
https://journals.lww.com/ear-hearing/Abstract/2005/06000/Audiological_Features_of_GJB2__Connexin_26_.11.aspx
Objective: The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness. Design: We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis.A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous …
Audiological features of GJB2 (Connexin 26) deafness ...
https://miami.pure.elsevier.com/en/publications/audiological-features-of-gjb2-connexin-26-deafness
Objective: The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness Design: We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous ...
Audiological features of GJB2 (connexin 26) deafness ...
https://europepmc.org/article/MED/15937416
Europe PMC is an archive of life sciences journal literature. OBJECTIVE:The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness DESIGN:We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis.
Audiologic Phenotype and Progression in GJB2 …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528189/
In a 2001 report 15 about GJB2-related hearing loss, 4 of 19 participants with mild to severe hearing impairment had progression of their hearing loss. In this report, we describe the longitudinal audiologic features for a large cohort of pediatric patients with biallelic pathogenic GJB2 mutations, including documentation of progression of the ...
Prevalence and audiological features in carriers of GJB2 ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449272/
Introduction. The human gap junction β-2 gene (GJB2) that encodes the protein connexin 26 was the first autosomal gene to be identified for non-syndromic deafness. 1 Connexin 26 is involved in recycling of potassium ions in the endolymph of the cochlea 2 and mutations in this gene are by far the commonest cause of autosomal-recessive non-syndromic …
Audiological Manifestations and Features of Connexin 26 ...
https://www.researchgate.net/publication/232037343_Audiological_Manifestations_and_Features_of_Connexin_26_Deafness
Connexin 26 (Cx26) deafness is the most common type of congenital deafness in many countries. The diagnosis is dependent on the molecular identification of pathogenic DNA mutations, and carries ...
Now you know Audiological Features Of Gjb2 Connexin 26 Deafness
Now that you know Audiological Features Of Gjb2 Connexin 26 Deafness, we suggest that you familiarize yourself with information on similar questions.
