Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency
GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss
(ARNSHL) in many populations. However, a few mutations have an ethnic-specific …
(ARNSHL) in many populations. However, a few mutations have an ethnic-specific …
[HTML][HTML] Nonsyndromic Hearing Loss and Deafness, DFNA3–RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL
REFERENCE ONLY - Abstract - Europe PMC Sign in | Create an account https://orcid.org …
REFERENCE ONLY - Abstract - Europe PMC Sign in | Create an account https://orcid.org …
GJB2 mutations: Passage through Iran
Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal
recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly …
recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly …
[PDF][PDF] The c. IVS1+ 1G> A mutation inthe GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.
A Sirmaci, D Akcayoz-Duman, M Tekin - Journal of Genetics, 2006 - ias.ac.in
Materials and methods We previously screened 371 unrelated probands with congenital or
prelingual-onset nonsyndromic sensorineural hearing loss for mutations in GJB2 (Tekin et …
prelingual-onset nonsyndromic sensorineural hearing loss for mutations in GJB2 (Tekin et …
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
E Kalay, R Caylan, H Kremer, APM de Brouwer… - Hearing research, 2005 - Elsevier
Mutations in the connexin 26 gene (GJB2) cause a significant proportion of prelingual non-
syndromic autosomal recessive deafness in all populations studied so far. To determine the …
syndromic autosomal recessive deafness in all populations studied so far. To determine the …
[HTML][HTML] Hearing loss in Africa: current genetic profile
SM Adadey, E Wonkam-Tingang, ET Aboagye… - Human genetics, 2022 - Springer
Hearing impairment (HI) is highly heterogeneous with over 123 associated genes reported
to date, mostly from studies among Europeans and Asians. Here, we performed a systematic …
to date, mostly from studies among Europeans and Asians. Here, we performed a systematic …
Molecular genetic landscape of hereditary hearing loss in Pakistan
S Naz - Human Genetics, 2022 - Springer
Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases
may be due to genetic causes. Though significant progress has been made in uncovering …
may be due to genetic causes. Though significant progress has been made in uncovering …
[HTML][HTML] High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect
MV Zytsar, MS Bady-Khoo, VY Danilchenko… - Genes, 2020 - mdpi.com
The mutations in the GJB2 gene (13q12. 11, MIM 121011) encoding transmembrane protein
connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide …
connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide …
Genetic etiology of non-syndromic hearing loss in Latin America
K Lezirovitz, RC Mingroni-Netto - Human Genetics, 2022 - Springer
Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival
JEA Common, WL Di, D Davies… - Journal of medical genetics, 2004 - jmg.bmj.com
METHODS Full length human wildtype (WT) Cx26 and Cx30 were independently cloned into
the pEGFP-N3 plasmid (BD Biosciences Clontech). The disease-associated connexin …
the pEGFP-N3 plasmid (BD Biosciences Clontech). The disease-associated connexin …