High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …
L Fugazzola, V Cirello, S Dossena… - European journal of …, 2007 - academic.oup.com
Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene
U Napiontek, G Borck, W Müller-Forell… - The Journal of …, 2004 - academic.oup.com
Pendred syndrome (PS) is the most common cause of syndromic deafness, accounting for
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …
[HTML][HTML] Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene
A Lofrano-Porto, GB Barra, PP Nascimento… - … de Endocrinologia & …, 2008 - SciELO Brasil
Pendred Syndrome (PS) is an autossomal recessive disorder characterized by
sensorineural deafness, goiter and iodide organification defect. The hearing loss is …
sensorineural deafness, goiter and iodide organification defect. The hearing loss is …
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
E Cama, MS Alemanno, E Bellacchio… - International journal of …, 2009 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by congenital
sensorineural deafness, goitre and defective iodide organification. Congenital and profound …
sensorineural deafness, goitre and defective iodide organification. Congenital and profound …
Genetics and phenomics of Pendred syndrome
A Bizhanova, P Kopp - Molecular and cellular endocrinology, 2010 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …
deafness, goiter and a partial defect in iodide organification. Goiter development and …
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan
CC Lai, CY Chiu, AS Shiao, YC Tso, YC Wu, TY Tu… - Metabolism, 2007 - Elsevier
Pendred syndrome (PS) is an autosomal recessive disease that is characterized by
congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In …
congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In …
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis
Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can
occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to …
occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to …
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies
F Palos, MER Garcia-Rendueles… - The Journal of …, 2008 - academic.oup.com
Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome
(PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and …
(PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and …
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia
P Kopp - The Journal of Clinical Endocrinology & Metabolism, 2014 - academic.oup.com
Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural
deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; …
deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; …