Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit
B Han, L Zong, Q Li, Z Zhang, D Wang, L Lan… - International journal of …, 2013 - Elsevier
Objective Previous epidemiological studies indicate that GJB2, SLC26A4 or mtDNA 12S
rRNA mutations were chiefly responsible for the hearing loss in children. A cost-effective …
rRNA mutations were chiefly responsible for the hearing loss in children. A cost-effective …
[HTML][HTML] SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct
T Ito, J Muskett, P Chattaraj, BY Choi… - World journal of …, 2013 - ncbi.nlm.nih.gov
Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter
associated with a defect of iodide organification, hearing loss, enlargement of the vestibular …
associated with a defect of iodide organification, hearing loss, enlargement of the vestibular …
A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population
B Sagong, JI Baek, SK Oh, KJ Na, JW Bae, SY Choi… - PloS one, 2013 - journals.plos.org
Hearing loss (HL) is a congenital disease with a high prevalence, and patients with hearing
loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 …
loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 …
A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss
Y Kim, HR Kim, J Kim, JW Shin, HJ Park… - Biochemical and …, 2013 - Elsevier
INTRODUCTION: Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and
DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS …
DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS …
Molecular Features of SLC26A4 Common Variant p. L117F
A Matulevičius, E Bernardinelli, Z Brownstein… - Journal of Clinical …, 2022 - mdpi.com
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort
SCS Carvalho, CHP Grangeiro… - BMC Research …, 2018 - Springer
Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in
humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 …
humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 …
[HTML][HTML] Sgk1 sensitive pendrin expression in murine platelets
L Pelzl, H Fakhri, AT Umbach, M Gawaz… - Cellular physiology and …, 2013 - karger.com
Background: The anion exchanger pendrin (SLC26A4) is required for proper development
of the inner ear, and contributes to iodide organification in thyroid glands as well as anion …
of the inner ear, and contributes to iodide organification in thyroid glands as well as anion …
[HTML][HTML] CT-scans of cochlear implant patients with characteristics of Pendred syndrome
S Roesch, G Moser, G Rasp, M Tóth - Cellular physiology and …, 2013 - karger.com
Background: Sensorineural hearing loss (SNHL) in newborns is estimated with an incidence
around 1: 10,000 per year and is divided into syndromic and non-syndromic forms. In case …
around 1: 10,000 per year and is divided into syndromic and non-syndromic forms. In case …
[PDF][PDF] Mutation screening and functional study of slc26a4 in chinese patients with congenital hypothyroidism
CR Zhang, YP Shi, CX Zhang, F Sun… - Journal of Clinical …, 2022 - jag.journalagent.com
Objective: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are
reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify …
reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify …