|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.
|
24503448 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
|
23418865 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
|
23638949 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
|
22695344 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
|
22695344 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
|
22384008 |
2012 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Vestibular dysfunction in DFNB1 deafness.
|
21465647 |
2011 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India.
|
23120683 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.
|
20739944 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.
|
20639189 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.
|
20815033 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.
|
20639189 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
|
20073550 |
2010 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|
19366456 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
|
19925344 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|
19366456 |
2009 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates.
|
18519481 |
2008 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
|
18294064 |
2007 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutations: passage through Iran.
|
15666300 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
|
15954104 |
2005 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular epidemiology of DFNB1 deafness in France.
|
15070423 |
2004 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
|
12172392 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
|
12176036 |
2002 |