[HTML][HTML] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and …
A Pera, M Villamar, A Vinuela, M Gandía… - European Journal of …, 2008 - nature.com
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …
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) …
[HTML][HTML] 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 …
[HTML][HTML] Compound heterozygosity for two novel SLC26A4 mutations in a large Iranian pedigree with Pendred syndrome
N Yazdanpanahi, MA Tabatabaiefar… - Clinical and …, 2013 - ncbi.nlm.nih.gov
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 about …
Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about …
[HTML][HTML] Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
RW Nonose, K Lezirovitz, MTB de Mello Auricchio… - BMC medical …, 2018 - Springer
Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and
autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar …
autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar …
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome
and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear …
and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear …
[引用][C] SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
ND Rendtorff, I Schrijver, M Lodahl… - Clinical …, 2013 - Wiley Online Library
Pendred syndrome (PDS) is characterized by recessive congenital/pre-lingual sensorineural
hearing impairment (HI), variable vestibular dysfunction, temporal bone abnormalities, and …
hearing impairment (HI), variable vestibular dysfunction, temporal bone abnormalities, and …
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations
C Campbell, RA Cucci, S Prasad, GE Green… - Human …, 2001 - Wiley Online Library
Abstract Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two
autosomal recessive disorders that share hearing loss as a common feature. The hearing …
autosomal recessive disorders that share hearing loss as a common feature. The hearing …
[HTML][HTML] SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
S Albert, H Blons, L Jonard, D Feldmann… - European journal of …, 2006 - nature.com
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic
origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene …
origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene …
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)
R Pourova, P Janoušek, M Jurovčík… - Annals of human …, 2010 - Wiley Online Library
Mutations in SLC26A4 cause Pendred syndrome (PS)–hearing loss with goitre–or DFNB4–
non‐syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged …
non‐syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged …