rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.
|
27541434 |
2016 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
|
25394566 |
2015 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
|
24338212 |
2014 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.
|
25468468 |
2014 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
|
24007330 |
2014 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
|
23638949 |
2013 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
|
21366435 |
2011 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
|
21961810 |
2011 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
|
19509082 |
2009 |
rs111033220
|
|
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 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
|
19786220 |
2009 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
|
19017801 |
2008 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.
|
17309986 |
2007 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
|
16283880 |
2005 |
rs111033220
|
|
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 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
|
15811013 |
2005 |
rs111033220
|
|
Pendred's syndrome
|
T |
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 |
rs111033220
|
|
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 |
rs111033220
|
|
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 |
rs111033220
|
|
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 |
rs111033220
|
|
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 |
rs111033220
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
|
12676893 |
2003 |