Deafness genes in Israel: implications for diagnostics in the clinic (Q37458145)

20 August 2017

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title

Deafness genes in Israel: implications for diagnostics in the clinic (English)

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20 August 2017

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Karen B Avraham

2

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author name string

Zippora Brownstein

series ordinal

1

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20 August 2017

language of work or name

English

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publication date

1 August 2009

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20 August 2017

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20 August 2017

volume

66

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20 August 2017

issue

2

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20 August 2017

page(s)

128-134

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https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

20 August 2017

1 reference

Consanguinity and deafness in Omani children

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Causes of childhood deafness in Pukhtoonkhwa Province of Pakistan and the role of consanguinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

21 January 2018

The genetics of deafness

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Usher syndrome: definition and estimate of prevalence from two high-risk populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Usher syndrome in the city of Birmingham--prevalence and clinical classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Prevalence of mitochondrial 1555A-->G mutation in adults of European descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Non-syndromic, autosomal-recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Usher syndrome: from genetics to pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

MRI of cochlear otosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Clinical otosclerosis, prevalence estimates and spontaneous progress.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Middle ear dynamic characteristics in patients with otosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Sex differences in patients with hearing impairments caused by otosclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

The potential role of endogenous stem cells in regeneration of the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

Non-sensory cells in the deafened organ of Corti: approaches for repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181AABD7F

10.1203/PDR.0B013E3181AABD7F

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

20 August 2017

1015347217

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1 reference