The responsible genes in Japanese deafness patients and clinical application using Invader assay. (Q37119924)

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4 January 2020

review article

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title

The responsible genes in Japanese deafness patients and clinical application using Invader assay (English)

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4 January 2020

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6

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4 January 2020

1

Shin-Ichi Usami

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5

Keita Tsukada

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4 January 2020

7

Yutaka Takumi

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4 January 2020

3

Hisakuni Fukuoka

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4 January 2020

author name string

Michio Wagatsuma

series ordinal

2

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4 January 2020

Hiroaki Suzuki

series ordinal

4

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4 January 2020

Satoko Abe

series ordinal

8

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language of work or name

English

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publication date

1 April 2008

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4 January 2020

published in

Acta Oto-Laryngologica

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4 January 2020

volume

128

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4 January 2020

issue

4

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4 January 2020

page(s)

446-454

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Sensorineural hearing loss in children.

4 January 2020

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Newborn hearing screening--a silent revolution

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Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

21 January 2018

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness

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GJB2 mutations and degree of hearing loss: a multicenter study

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Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

21 January 2018

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Better speech performance in cochlear implant patients with GJB2-related deafness

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

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Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

21 January 2018

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Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

21 January 2018

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Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.

21 January 2018

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Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

21 January 2018

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Prevalence of mitochondrial gene mutations among hearing impaired patients

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Sensorineural hearing loss associated with the mitochondrial mutations

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Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.

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Vertebrobasilar occlusive disorders presenting as sudden sensorineural hearing loss.

21 January 2018

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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

21 January 2018

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Rapid mass screening method and counseling for the 1555A-->G mitochondrial mutation.

21 January 2018

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Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

21 January 2018

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Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.

21 January 2018

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Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss

21 January 2018

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Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

21 January 2018

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Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues

21 January 2018

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Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan.

21 January 2018

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Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss

21 January 2018

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Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients

21 January 2018

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

21 January 2018

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A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

21 January 2018

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Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.

21 January 2018

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Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

21 January 2018

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Detection of mutations in genes associated with hearing loss using a microarray-based approach

21 January 2018

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10.1080/00016480701785046

21 January 2018

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18368581%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference