rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations in the SLC26A4 gene.
|
22717225 |
2012 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
|
21961810 |
2011 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
|
19786220 |
2009 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
|
18813951 |
2009 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
|
19608655 |
2009 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
|
19017801 |
2008 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
|
18274916 |
2008 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
|
18285825 |
2008 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
|
17443271 |
2007 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
|
17718863 |
2007 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
|
17766716 |
2007 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features.
|
16275403 |
2006 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
|
16053392 |
2005 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |
rs111033305
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
rs111033305
|
|
Pendred's syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |