Genetic etiology of hearing loss in Iran
Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the
world's population. There has been an exponential increase in the identification of genes …
world's population. There has been an exponential increase in the identification of genes …
[HTML][HTML] Heterogeneity of hereditary hearing loss in Iran: a comprehensive review
A significant contribution to the causes of hereditary hearing impairment comes from genetic
factors. More than 120 genes and 160 loci have been identified to be involved in hearing …
factors. More than 120 genes and 160 loci have been identified to be involved in hearing …
[HTML][HTML] Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
VY Danilchenko, MV Zytsar, EA Maslova… - International Journal of …, 2022 - mdpi.com
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population
T Ghasemnejad, MS Khaniani, F Zarei… - International journal of …, 2017 - Elsevier
Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic
hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second …
hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second …
[HTML][HTML] Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of
Mendelian human disorders. Using autozygome-guided next-generation sequencing …
Mendelian human disorders. Using autozygome-guided next-generation sequencing …
[HTML][HTML] Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in …
VY Danilchenko, MV Zytsar, EA Maslova… - Genes, 2023 - mdpi.com
Pathogenic variants in the SLC26A4 gene leading to nonsyndromic recessive deafness
(DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss …
(DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss …
[HTML][HTML] SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management
M Tawalbeh, D Aburizeg, BO Abu Alragheb… - Genes, 2022 - mdpi.com
SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic
sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) …
sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) …
[HTML][HTML] SLC26A4 pathogenic variants as a third cause of hearing loss: Role of three exons in DFNB4 deafness in Iran
E Davoudi-Dehaghani, N Mahdieh… - Indian Journal of …, 2019 - journals.lww.com
Aims: This article reports results of homozygosity mapping and SLC26A4 variant analysis in
Iran. Settings and Design: A case series study was performed on forty GJB2-negative Iranian …
Iran. Settings and Design: A case series study was performed on forty GJB2-negative Iranian …
[PDF][PDF] Scientific advances in mapping syndromic hearing loss
A DANESH - entandaudiologynews.com
Waardenburg syndrome: The cardinal features of this syndrome include pigmentation
disorders of the skin, hair and the eyes. Patches of white forelock and multi-coloured eyes …
disorders of the skin, hair and the eyes. Patches of white forelock and multi-coloured eyes …