A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
about
Autosomal recessive nonsyndromic deafness genes: a reviewAllele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentHearing impairment and language delay in infants: Diagnostics and genetics.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.ATP-mediated cell-cell signaling in the organ of Corti: the role of connexin channels.Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss AssociationChallenges and solutions for gene identification in the presence of familial locus heterogeneity.Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletionsEMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.Strategies for genetic study of hearing loss in the Brazilian northeastern region.Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Identification of D179H, a novel missense GJB2 mutation in a western Sicily family.Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.Molecular diagnosis of hearing loss.A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss
P2860
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P2860
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@ast
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@en
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@nl
type
label
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@ast
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@en
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@nl
prefLabel
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@ast
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@en
A novel DFNB1 deletion allele ...... rols GJB2 and GJB6 expression.
@nl
P2093
P2860
P50
P1433
P1476
A novel DFNB1 deletion allele ...... trols GJB2 and GJB6 expression
@en
P2093
C Le Marechal
E L Sartorato
J Elfenbein
P2860
P304
P356
10.1111/J.1399-0004.2010.01387.X
P577
2010-03-01T00:00:00Z