|
SLC26A4-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
|
29196752 |
2017 |
|
SLC26A4-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
|
25394566 |
2015 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
|
23965030 |
2013 |
|
SLC26A4-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
|
24341454 |
2013 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.
|
22285650 |
2012 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in the SLC26A4 gene.
|
22717225 |
2012 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
|
21704276 |
2011 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
|
17876604 |
2008 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
|
19040761 |
2008 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
SLC26A4-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
|
19017801 |
2008 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity.
|
16914891 |
2006 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
SLC26A4-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
|
16791000 |
2006 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
|
15679828 |
2005 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
|
12676893 |
2003 |
|
SLC26A4-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |
|
SLC26A4-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
11317356 |
2001 |