The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
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The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsGJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewSurvey on Infant Hearing Loss at Caritas Baby Hospital in Bethlehem-Palestine.Modifiers of hearing impairment in humans and mice.Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Connexin mutations in skin disease and hearing loss.Inherited connexin mutations associated with hearing loss.Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossThe genetic bases for non-syndromic hearing loss among ChineseGenetics of deafness: recent advances and clinical implications.Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic DeafnessMolecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.Deafness genes in Israel: implications for diagnostics in the clinic.A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family.Do cell junction protein mutations cause an airway phenotype in mice or humans?GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?Performance after cochlear implantation in DFNB1 patients.Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.Research of genetic bases of hereditary non-syndromic hearing loss.The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.Genetic testing for hearing loss: different motivations for the same outcome.Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss.GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.Exploring the clinical and epidemiological complexity of GJB2-linked deafness.Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
P2860
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P2860
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
The prevalence and expression ...... oss in the Israeli population.
@en
The prevalence and expression ...... oss in the Israeli population.
@nl
type
label
The prevalence and expression ...... oss in the Israeli population.
@en
The prevalence and expression ...... oss in the Israeli population.
@nl
prefLabel
The prevalence and expression ...... oss in the Israeli population.
@en
The prevalence and expression ...... oss in the Israeli population.
@nl
P2093
P356
P1433
P1476
The prevalence and expression ...... oss in the Israeli population.
@en
P2093
A Orr-Urtreger
K B Avraham
P356
10.1007/S004390051009
P577
2000-01-01T00:00:00Z