Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular …
Y Yuan, W Guo, J Tang, G Zhang, G Wang, M Han… - PloS one, 2012 - journals.plos.org
Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China
Y Chai, Z Huang, Z Tao, X Li, L Li, Y Li… - American Journal of …, 2013 - Wiley Online Library
Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of
FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with …
FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with …
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA
K Mey, AA Muhamad, L Tranebjærg… - The …, 2019 - Wiley Online Library
Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
H Hu, L Wu, Y Feng, Q Pan, Z Long, J Li… - Journal of Human …, 2007 - nature.com
It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …
Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians
BY Choi, AK Stewart, KK Nishimura… - Genetic testing and …, 2009 - liebertpub.com
Context: Enlargement of the vestibular aqueduct (EVA) is a commonly detected inner ear
anomaly related to hearing loss and often associated with mutations of SLC26A4 encoding …
anomaly related to hearing loss and often associated with mutations of SLC26A4 encoding …
Mutation Analysis of Slc26a4 in Mainland Chinese Patients with Enlarged Vestibular Aqueduct
S Reyes, G Wang, X Ouyang, B Han… - … —Head and Neck …, 2009 - journals.sagepub.com
OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical
features in a population of mainland Chinese patients with nonsyndromic sensorineural …
features in a population of mainland Chinese patients with nonsyndromic sensorineural …
Genotype–phenotype correlations for SLC26A4-related deafness
H Azaiez, T Yang, S Prasad, JL Sorensen… - Human genetics, 2007 - Springer
Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
Correlation between genotype and phenotype in patients with bi‐allelic SLC26A4 mutations
Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia.
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …
Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …
BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …