- Familial Enlarged Vestibular Aqueduct Syndrome (FEVAS)
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Goh EK, Shim WY, Lee BJ, Chon KM
- KMID: 2274553
- Korean J Otolaryngol-Head Neck Surg.
- 1999 Mar;42(3):364-368.
The enlarged vestibular aqueduct syndrome (EVAS) is a clinical disease causing anatomical abnormality of bony canal in the temporal bone containing endolymphatic duct and sac. It is also associated with... -
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- A Case of Bilateral Benign Paroxysmal Positional Vertigo in Bilateral Mondini Malformation With Right Enlarged Vestibular Aqueduct Syndrome
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Lee MY, Jung SD, Suh MW, Jung JY
- KMID: 1437777
- Res Vestib Sci.
- 2012 Jun;11(2):77-80.
Enlarged vestibular aqueduct syndrome (EVAS) is well known congenital bony ear anomaly. It's audiologic symptoms and radiological findings are reported in many literatures. However vestibular symptoms of EVAS are rarely... -
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- Two Cases of Enlarged Vestibular Aqueduct Syndrome
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Kwon JK, Kim SH, Baek SM, Nam JK
- KMID: 2276200
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Aug;47(8):787-790.
A large vestibular aqueduct, an isolated anomaly of temporal bone, is relatively rare and its association with sensorinerual hearing loss in childhood is known as the enlarged vestibular aqueduct syndrome.... -
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- The Measurement of Temporal Bone Including Retrolabyrinthine Portion in Meniere's Disease
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Oh SC, Cha HE, Park C
- KMID: 2274609
- Korean J Otolaryngol-Head Neck Surg.
- 2000 Jan;43(1):20-23.
BACKGROUND AND OBJECTIVES: AThe anatomical aspects of the multiple etiopathogenic factors in Meniere's disease such as narrowed vestibular aqueduct, hypoplasia of the perilabyrinthine portion, hypoplastic vestibular aqueduct, anteromedially displaced sigmoid... -
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- A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
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Kim S, Song DG, Bae JW, Choi SY, Kim UK, Choi YJ, Lee KY, Lee SH, Lee JR
- KMID: 2007193
- Clin Exp Otorhinolaryngol.
- 2009 Jun;2(2):100-102.
- doi: 10.3342/ceo.2009.2.2.100
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).... -
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- A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
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Sagong B, Baek JI, Lee KY, Kim UK
- KMID: 2376408
- Clin Exp Otorhinolaryngol.
- 2017 Mar;10(1):50-55.
- doi: 10.21053/ceo.2016.00430
OBJECTIVES: We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female... -
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- Auditory Outcome of Cochlear Implantation in Adolescent and Adult Patients with Enlarged Vestibular Aqueduct and Biallelic SLC26A4 Mutations
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Song MH, Yoo JE, Choi JY, Choi HS
- KMID: 2401399
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2017 Dec;60(12):605-613.
- doi: 10.3342/kjorl-hns.2017.00549
BACKGROUND AND OBJECTIVES: Mutations of the SLC26A4 gene cause congenital hearing loss and enlarged vestibular aqueduct (EVA). A considerable proportion of patients with SLC26A4 mutations have significant residual hearing at... -
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- Inner Ear Anomalies Causing Congenital Sensorineural Hearing Loss: CT and MR Imaging Findings
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Hong HS, Paik SH, Cha JG, Park SJ, Joh JH, Park JS, Kim DH, Lee HK, Kim SC
- KMID: 1834226
- J Korean Radiol Soc.
- 2005 Mar;52(3):165-171.
- doi: 10.3348/jkrs.2005.52.3.165
Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography... -
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- Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct
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Yu Y, Yang Y, Lu J, Jin Y, Yang Y, Hong E, Shi J, Chen F, Han S, Chu P, Guo Y, Ni X
- KMID: 2437491
- Clin Exp Otorhinolaryngol.
- 2019 Feb;12(1):50-57.
- doi: 10.21053/ceo.2018.00213
OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4... -
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- A Case of Congenital Sensorineural Hearing Loss with Multinodular Goiter
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Park KH, Park JJ, Choi SM, Kwon SU
- KMID: 2276401
- Korean J Otolaryngol-Head Neck Surg.
- 2005 Apr;48(4):535-538.
Pendred syndrome is an autosomal recessive condition classically characterized by congenital deafness and goiter, and is the most common cause of hereditary deafness in Korea. It is caused by mutations... -
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- Diagnosis of Inner Ear Malformations by Computed Tomography Measurements
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Shim HJ, Shin JE, Chung JW, Lee KS
- KMID: 1875279
- Korean J Otolaryngol-Head Neck Surg.
- 2006 Jul;49(7):688-694.
BACKGROUND AND OBJECTIVES: The objectives of this study were to achieve the normative measurements of inner ear structures on temporal bone computed tomography (TBCT) and, by using these data, diagnose... -
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- Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
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Kim H, Lim HS, Ryu JS, Kim HC, Lee S, Kim YT, Kim YJ, Lee KR, Park HJ, Han SH
- KMID: 2184495
- J Genet Med.
- 2014 Dec;11(2):63-68.
- doi: 10.5734/JGM.2014.11.2.63
PURPOSE: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal... -
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- Contructive Interference in Steady State(CISS) 3DFT MR Imaging of the Inner Ear and Adjacent Structures
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Chung EC, Choi HY, Lee JS, Ko EJ, Lee MS
- KMID: 2011997
- J Korean Radiol Soc.
- 1997 Mar;36(3):385-391.
PURPOSE: To assess the value of 3 dimensional fourier transformation interference in steady state magnetin resonance imaging(3 DFT CISS1 MRI) in depicting the inner ear and vascular structures. MATERIALS AND METHODS:... -
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- Clinical Application of 3D-FIESTA Image in Patients with Unilateral Inner Ear Symptom
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Oh JH, Chung JH, Min HJ, Cho SH, Park CW, Lee SH
- KMID: 2143852
- Korean J Audiol.
- 2013 Dec;17(3):111-117.
- doi: 10.7874/kja.2013.17.3.111
BACKGROUND AND OBJECTIVES: Unilateral auditory dysfunction such as tinnitus and hearing loss could be a warning sign of a retrocochlear lesion. Auditory brainstem response (ABR) and internal auditory canal magnetic... -
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- Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
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Yazdanpanahi N, Tabatabaiefar MA, Farrokhi E, Abdian N, Bagheri N, Shahbazi S, Noormohammadi Z, Chaleshtori MH
- KMID: 2278426
- Clin Exp Otorhinolaryngol.
- 2013 Dec;6(4):201-208.
OBJECTIVES: The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information... -
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- Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic
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Shin JW, Lee SC, Lee HK, Park HJ
- KMID: 2278541
- Clin Exp Otorhinolaryngol.
- 2012 Apr;5(Suppl 1):S10-S13.
OBJECTIVES: Genetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4... -
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- Molecular Genetic Diagnosis of Deafness: Current and Future
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Oh SH, Choi BY
- KMID: 1922194
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2014 Jan;57(1):1-6.
- doi: 10.3342/kjorl-hns.2014.57.1.1
Advances in molecular biology and molecular genetic technologies have revealed extreme etiologic heterogeneity of genetic hearing loss. Genes known to contribute to deafness have been reported to be involved with... -
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- Normative Measurements of the Inner Ear Structures on Temporal Bone CT Images Using PACS
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Goh EK, Park SH, Yoon BN, Lee IW, Roh HJ, Chon KM, Kim HJ
- KMID: 2276207
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Sep;47(9):827-832.
BACKGROUND AND OBJECTIVES: The reports of normative measurements for inner ear structure using computer-based programs are rare. The purpose of this study was to measure the normative data of the... -
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- Results and Cost-Effectiveness of Newborn Hearing Screening Program in Ajou University Hospital
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Moon SK, Park HJ, Kim YJ, Park MS, Choung YH, Park KH
- KMID: 2141359
- Korean J Otolaryngol-Head Neck Surg.
- 2002 Nov;45(11):1052-1056.
BACKGROUND AND OBJECTIVES: It is estimated that more than 2 in every 1,000 neonates suffers from hearing loss. Early detection with appropriate rehabilitation of congenital hearing loss can reduce the... -
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- Clinical Follow-up of Hearing-Impaired Infants Detected by Newborn Hearing Screening
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Moon SK, Park HJ, Park MS, Kang YS, Kim Y, Choung YH, Park K
- KMID: 2276205
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Sep;47(9):812-817.
BACKGROUND AND OBJECTIVES: When screened using cord blood, congenital hearing loss are detected more frequently than other congenital metabolic diseases such as phenylketonuria or congenital hypothyroidism. Newborn hearing screening is... -
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