Screening of SLC26A4 Gene Hotspots in 2673 Patients Associated with Sensorineural Hearing Loss in Northwestern China. [PDF]
J Int Adv Otol, 2022 Wang Y +5 more
europepmc +1 more source
BMC Medical Genetics, 2019 Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao +8 more
doaj +1 more source
Strategies for genetic study of hearing loss in the \ud Brazilian northeastern region [PDF]
The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region.
Andrade, Wagner T. +6 more
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Neuroendocrinology Letters, 2008 This paper presents the current views, regarding the pathomechanisms, which lead to the development of pathological symptoms in the enlargement of the vestibular aqueduct syndrome (EVAS) and the Pendred syndrome (PS). Associated phenotypes have been discussed and an attempt has been undertaken to correlate them with a corresponding genotype.
Katarzyna, Maciaszczyk +1 more
openaire +2 more sources
Analysis of deafness susceptibility gene of neonates in northern Guangdong, China
Scientific ReportsThis study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control.
Zhanzhong Ma +6 more
doaj +1 more source
Familial pattern of large vestibular aqueduct syndrome in a Chinese family [PDF]
, 2013 Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence ...
Ab Aziz, A, Asma, A, Hazmi, M
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Study of the association of DFNB3 locus with autosomal recessive non-syndromic hearing loss in iranian deaf population using genetic linkage analysis [PDF]
, 2014 Background: Hearing loss is a common sensory disorder that typically illustrates genetic heterogeneity in human populations. The incidence of congenital hearing loss is estimated at 1 in 500 births of which approximately 70 of cases are attributed to ...
Ataiee, Mitra. +8 more
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Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations. [PDF]
Avicenna J Med Biotechnol, 2023 Rajalakshmi K +5 more
europepmc +1 more source
Investigation of D7S496 marker characteristics in five Iranian ethnic groups for linkage analysis of autosomal recessive non syndromic hearing loss [PDF]
, 2014 Background and aims: The most important currently identifiable genetic cause of autosomal recessive non syndromic hearing loss (ARNSHL) after GJB2 mutations are the SLC26A4 gene mutations. In this investigation, the characteristics and informativeness of
Hashemzadeh-Chaleshtori, Morteza. +2 more
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Pathway landscape and regulatory networks of epigenetically modified Breast Cancer genes [PDF]
Epigenetic changes are a key regulator of gene expression in different cancer histotypes. After investigating the differentially expressed genes upon treatment with a demethylating agent, e.g.
Capobianco, Enrico +3 more
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