Associated Papers
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
Soh LM et al.
European Journal of Endocrinology, 2015
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
Rendtorff ND et al.
Clinical Genetics, 2013
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
Mercer S et al.
Genetic Testing and Molecular Biomarkers, 2011
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S et al.
American Journal of Medical Genetics. Part A, 2004
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
Tsukamoto K et al.
European Journal of Human Genetics : Ejhg, 2003
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C et al.
Human Mutation, 2001
Select a paper to view details