hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
|
22567152 |
2012 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.
|
23039283 |
2012 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our results indicated that the p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal PCHI.
|
22574200 |
2012 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our results show that after the GJB2 gene mutation in LRTOMT gene is the second cause of congenital hearing impairment in Moroccan patients.
|
23053991 |
2012 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Forty-five patients, with sensorineural or mixed HI and an available blood sample for GJB2 sequencing from DNA, were selected from 166 east Greenlanders by specialist audiology examination, including pure-tone air and bone conduction audiometry from 125 Hz to 8000 Hz.
|
22369226 |
2012 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.
|
21114417 |
2011 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutational analysis of GJB2 gene in 86 unrelated Yakut patients with congenital HI without other clinical features has been performed.
|
21776002 |
2011 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Because of its high frequency, DFNB1 hearing impairment has received continued attention from researchers along the years, resulting in a wealth of data that is unparalleled among these disorders.
|
21622233 |
2011 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The Chinese subjects with two truncating mutations in GJB2 were shown to correlate with more severe HI.
|
21488715 |
2011 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
GJB2 gene mutations make the largest contribution to hereditary hearing impairment.
|
20739944 |
2010 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Of these 8 patients with GJB2-related hearing impairment, 3 had serviceable hearing into their teenage years.
|
20601923 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our investigations document additional evidence for the correlation between the cited mutations in the GJB2 gene and a syndromic hearing impairment with palmoplantar keratoderma.
|
20583176 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In seven CD patients, their hearing impairment was related to GJB2 mutation.
|
20377502 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome.
|
20613545 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular variations in GJB2 gene are the common cause of hearing impairment in Caucasians.
|
20609484 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
|
20442751 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Audiograms of 62 patients (56 families) with biallelic GJB2 mutations typically indicated a profound hearing loss with T/T mutations, moderate hearing loss with T/NT mutations, and mild hearing impairment with NT/NT mutations (p < 0.01, Student's t test).
|
20234132 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
|
20381175 |
2010 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
This review focuses on the role of connexin 26 and mitochondrial 12S rRNA genes in hearing which will be helpful for better understanding of genes in sporadic and aminoglycoside-induced non syndromic hearing impairment.
|
19942739 |
2009 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment.
|
19274344 |
2009 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Pathogenic mutations in GJB2 and GJB6 genes were detected in 41 individuals (13.7%), and 80.5% (33/41) presented these mutations in homozygosis or compound heterozygosis, thus explaining their hearing defect.
|
19125024 |
2009 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Five SNPs in the DFNB1 region were examined using a case-control association study between cases with sporadic hearing impairment and controls with normal hearing.
|
19719946 |
2009 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
One of these probands, however, is also homozygous for the 35delG mutation in the GJB2 gene and a second patient has Down syndrome, which is also associated with hearing impairment.
|
19027966 |
2009 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population.
|
19043807 |
2008 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
|
18368581 |
2008 |