Early deterioration of residual hearing in patients with SLC26A4 mutations
BG Kim, KJ Roh, AY Park, SC Lee, BS Kang… - The …, 2016 - Wiley Online Library
Objectives/Hypothesis To compare changes in hearing in patients with SLC26A4 during
early and late childhood. Study Design Retrospective chart review. Methods A total of 102 …
early and late childhood. Study Design Retrospective chart review. Methods A total of 102 …
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome
MK Park, B Sagong, JD Lee, SH Bae, B Lee… - International Journal of …, 2014 - Elsevier
Hearing loss (HL) is genetically heterogeneous and can be caused by mutations in multiple
gene lesions. Pendred syndrome, caused by mutation of SLC26A4, is one of the common …
gene lesions. Pendred syndrome, caused by mutation of SLC26A4, is one of the common …
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.
K Maciaszczyk, A Lewiński - Neuro endocrinology letters, 2008 - europepmc.org
This paper presents the current views, regarding the pathomechanisms, which lead to the
development of pathological symptoms in the enlargement of the vestibular aqueduct …
development of pathological symptoms in the enlargement of the vestibular aqueduct …
[HTML][HTML] Pendred syndrome in Tunisia
I Charfeddine, M Mnejja, B Hammami… - European annals of …, 2010 - Elsevier
OBJECTIVES: We report a clinical and genetic study of three consanguineous Tunisian
families affected by Pendred syndrome. PATIENTS AND METHODS: Three families from the …
families affected by Pendred syndrome. PATIENTS AND METHODS: Three families from the …
[HTML][HTML] Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
S Huang, D Han, Y Yuan, G Wang, D Kang… - Journal of translational …, 2011 - Springer
Abstract Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with
goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as …
goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as …
[HTML][HTML] Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model
P Wangemann, EM Itza, B Albrecht, T Wu, SV Jabba… - BMC medicine, 2004 - Springer
Background Pendred syndrome, a common autosomal-recessive disorder characterized by
congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for …
congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for …
[HTML][HTML] Identification of SLC26A4 c. 919-2A> G compound heterozygosity in hearing-impaired patients to improve genetic counseling
Q Li, Q Zhu, Y Yuan, S Huang, D Han, D Huang… - Journal of Translational …, 2012 - Springer
Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …
Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression
P Wangemann, HM Kim, S Billings… - American Journal …, 2009 - journals.physiology.org
Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …
Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome
C Stinckens, PLM Huygen, FBM Joosten… - International journal of …, 2001 - Elsevier
Objective: To evaluate vestibular and long-term audiometric findings in patients with
Pendred syndrome. Study design: Retrospective analysis of long-term clinical data. Setting …
Pendred syndrome. Study design: Retrospective analysis of long-term clinical data. Setting …
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?
AC Madeo, A Manichaikul, SP Pryor… - Journal of medical …, 2009 - jmg.bmj.com
Background and aims: Mutations of SLC26A4 cause Pendred syndrome, an autosomal
recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts …
recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts …