DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
|
9336442 |
1997 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
|
9285800 |
1997 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
|
9328482 |
1997 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
|
9856479 |
1998 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Connexin 26 gene linked to a dominant deafness.
|
9620796 |
1998 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
|
10501520 |
1999 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
10376574 |
1999 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
|
11102979 |
2000 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
|
10807696 |
2000 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
|
10713883 |
2000 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
|
10982180 |
2000 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
|
11438992 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
|
11354642 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
|
11584050 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
|
11493200 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
|
11493200 |
2001 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
|
12176036 |
2002 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
|
12172394 |
2002 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional study of GJB2 in hereditary hearing loss.
|
12352684 |
2002 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
|
12189493 |
2002 |