Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct
M Ladsous, V Vlaeminck-Guillem, V Dumur, C Vincent… - Thyroid, 2014 - liebertpub.com
Background: Pendred syndrome (PS), a recessive disorder caused by mutations in the
SLC26A4 (PDS) gene, is associated with deafness and goiter. SLC26A4 mutations have …
SLC26A4 (PDS) gene, is associated with deafness and goiter. SLC26A4 mutations have …
Deafness genes and their diagnostic applications
K Cryns, G Van Camp - Audiology and Neurotology, 2004 - karger.com
Hearing impairment (HI) is clinically and genetically very heterogeneous, and auditory
genes are discovered at a very rapid pace. The identification of deafness genes is enabling …
genes are discovered at a very rapid pace. The identification of deafness genes is enabling …
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 …
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes
M Sugiura, E Sato, T Nakashima, J Sugiura… - European Archives of …, 2005 - Springer
Fourteen patients with a Pendred syndrome gene (Pds) mutation and three patients without
the mutation were studied to evaluate long-term vestibular and auditory manifestations …
the mutation were studied to evaluate long-term vestibular and auditory manifestations …
The natural history of hearing loss in pendred syndrome and non-syndromic enlarged vestibular aqueduct
K Mey, M Bille, SHR Rasmussen… - Otology & …, 2019 - journals.lww.com
Study Design: Retrospective cohort study. Subjects and Methods: At our tertiary referral
center, a retrospective search of all patients with enlarged vestibular aqueduct, hearing loss …
center, a retrospective search of all patients with enlarged vestibular aqueduct, hearing loss …
Clinical characteristics and genotype–phenotype correlation of hearing loss patients with SLC26A4 mutations
H Suzuki, A Oshima, K Tsukamoto, S Abe… - Acta oto …, 2007 - Taylor & Francis
Conclusions. The present study confirmed the clinical characteristics of patients with
SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually …
SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually …
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new …
A Adato, L Raskin, C Petit, B Bonne-Tamir - European Journal of …, 2000 - nature.com
About 60% of congenital hearing impairment cases in developed countries are due to
genetic defects. Data on the molecular basis of hereditary hearing reflects vast genetic …
genetic defects. Data on the molecular basis of hereditary hearing reflects vast genetic …
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene
JJ Yang, CC Tsai, HM Hsu, JY Shiao, CC Su, SY Li - Hearing research, 2005 - Elsevier
Recessive mutations of PDS gene are the common causes of Pendred syndrome and non-
syndromic hearing loss associated with temporal bone abnormalities ranging from isolated …
syndromic hearing loss associated with temporal bone abnormalities ranging from isolated …
Unresolved questions regarding human hereditary deafness
Human hearing loss is a common neurosensory disorder about which many basic research
and clinically relevant questions are unresolved. This review on hereditary deafness focuses …
and clinically relevant questions are unresolved. This review on hereditary deafness focuses …