Pendred syndrome

09/01/2003 - "Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome."
01/15/2001 - "Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in deafness and PS as well as elucidating the function of the PDS-encoded protein (pendrin). "
12/01/1997 - "These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease."
08/01/2014 - "Human mutations in SLC26A4 lead to a syndromic form of deafness with enlargement of the thyroid gland (Pendred syndrome) and non-syndromic deafness (DFNB4). "
01/01/2013 - "Pendred syndrome is a common autosomal recessive disorder causing deafness. "

06/01/2012 - "The aim of the present study was to characterize a family with Pendred syndrome affected by severe to profound HL and presenting goiter. "
01/01/2006 - "Unlike NSRD with EVA, Pendred syndrome is characterized by goiter, which may be present after early adulthood. "
05/01/1967 - "[On 2 typical cases of Pendred syndrome in a family with high incidence of simple goiter]."
10/01/2015 - "This is supported by the phenotype of patients with Pendred syndrome (deafness, goiter, partial iodide organification defect), which is caused by biallelic mutations in the SLC26A4 gene, as well as functional studies. "
05/01/2014 - "In 100 patients with bilateral enlarged vestibular aqueduct among 1511 Japanese hearing loss probands registered in our gene bank, goiter data were available for 79, of whom 15 had Pendred syndrome and 64 had nonsyndromic hearing loss. "

07/01/2008 - "The aim of our study was to identify patients with Pendred syndrome among a historical cohort of patients with congenital hypothyroidism (CH) identified by neonatal screening, and to find their mutations in the PDS/SLC26A4 gene. "
07/01/2008 - "Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations."
01/01/2008 - "The thyroid impairment in Pendred syndrome develops only in 80% of affected individuals in form of a euthyroid or hypothyroid goitre, which is rarely present at birth, when it can be diagnosed by the neonatal screening for congenital hypothyroidism. "
01/01/2008 - "Pendred syndrome (OMIM274600) is one of the causes of congenital hypothyroidism due to thyroid dyshormonogenesis. "
01/01/1966 - "[Contribution to the study of the Pendred syndrome (association of goiter, deaf-mutism and cretinism)]."

04/04/2012 - "Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss."
07/01/1998 - "Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with congenital hearing loss."
11/01/2014 - "Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. "
09/01/2014 - "Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. "
05/01/2014 - "Of the Pendred syndrome patients, 93% (14/15) were carriers, as were 77% (49/64) of the nonsyndromic hearing loss patients. "

02/01/1999 - "In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. "
01/01/2014 - "Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. "
05/01/2011 - "Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct, two conditions associated with sensorineural hearing loss. "
01/01/2011 - "The pendrin (SLC26A4 or PDS) gene is responsible, when mutated, for the Pendred syndrome, a recessive disorder characterized by sensorineural hearing loss often accompanied by thyroid dysfunctions. "
11/25/2008 - "Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland. "