Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4, which encodes pendrin, are responsible for hearing loss with an enlarged vestibular aqueduct and Pendred syndrome.
|
27109633 |
2016 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.
|
27541434 |
2016 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
|
27247933 |
2016 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
|
26485571 |
2016 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
|
27792752 |
2016 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study thus led to the finding of two novel SLC26A4 genotypes and provides new insight on the phenotypic features associated with PS.
|
27214836 |
2016 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
|
27344577 |
2016 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
|
25991456 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.
|
26100058 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
|
26397989 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
|
25394566 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
|
25788563 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
|
25394566 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
|
26445815 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
|
25491636 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
|
25290043 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
|
25788563 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene.
|
25455162 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
|
26683941 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
|
25290043 |
2015 |
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
|
25999548 |
2015 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome.
|
24007330 |
2014 |
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
|
24949729 |
2014 |