A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2009 Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).
SungHee Kim +8 more
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Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea [PDF]
, 2008 Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct
Bahmad Júnior, Fayez +12 more
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Journal of Medicine in Scientific Research, 2018 Background Congenital inner ear abnormality is a major cause of sensorineural hearing loss in children, about 20% of children with congenital sensorineural hearing loss (SNHL) have associated malformations of the temporal bone, and increased experience ...
Ihab Sefein +5 more
doaj +1 more source
Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate [PDF]
, 2005 Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought.
Fowler, Bruce A. +4 more
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Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss [PDF]
, 2012 Objective: Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services ...
Farrokhi, Effat. +7 more
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Molecular basis of hearing loss associated with enlarged vestibular aqueduct
Journal of Bio-X Research, 2019 . Enlarged vestibular aqueduct (EVA) is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss. Most cases of EVA with hearing loss are caused by biallelic mutations of SLC26A4.
Xiaoyu Yu, Hao Wu, Tao Yang
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Listy klinicke logopedie, 2020 Inner ear malformation comprises a broad group of disorders, the main symptom of which is hearing loss. The disorder occurs during the embryonic development of the auditory system. Only about 20 % of malformations can be diagnosed radiologically. Hearing
Dagmar Hošnová, Milan Urík
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Systematization of vestibular aqueduct anatomical study by high-resolution computed tomography in patients with unilateral Ménière's disease [PDF]
, 2006 OBJECTIVE: To systematize the assessment of vestibular aqueduct by high-resolution computed tomography (HRCT) in patients with unilateral Ménière's disease as compared with a control group.
Alvarenga, Adalberto Martins +5 more
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Assessment of cochlear implantation outcome in patients with enlarged vestibular aqueduct syndrome
The Egyptian Journal of Otolaryngology, 2018 Context Theoverall outcome of cochlear implantation (CI) in patients with enlarged vestibular aqueduct (EVA) was comparable to other CI users. However, there were various concerns regarding surgical issues that may affect postoperative outcome. Moreover,
Ossama A. Sobhy +3 more
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Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review [PDF]
, 2018 Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
Bhalla, Sanjeev +6 more
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