Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study (Q35289974)

7 August 2017

title

Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study (English)

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7 August 2017

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Yu Chen

1

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7 August 2017

Mayila Tudi

2

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7 August 2017

Jie Sun

3

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7 August 2017

Chao He

4

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7 August 2017

Hong-Li Lu

5

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7 August 2017

Qing Shang

6

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7 August 2017

Di Jiang

7

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7 August 2017

Pilidong Kuyaxi

8

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7 August 2017

Bin Hu

9

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7 August 2017

Hua Zhang

10

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7 August 2017

publication date

14 September 2011

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Journal of Translational Medicine

7 August 2017

published in

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7 August 2017

volume

9

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7 August 2017

page(s)

154

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GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Newborn hearing screening--a silent revolution

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

GJB2 mutations and degree of hearing loss: a multicenter study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

At the speed of sound: gene discovery in the auditory system

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Prevalent connexin 26 gene (GJB2) mutations in Japanese

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Prevalence of mitochondrial gene mutations among hearing impaired patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Sensorineural hearing loss in children.

27 July 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

The prevalence of the 235delC GJB2 mutation in a Chinese deaf population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

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

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

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/10.1186/1479-5876-9-154

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Frequency of SLC26A4 IVS7-2A > G mutation in patients with severe to profound hearing loss from different area and ethnic group in China

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

[Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China].

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189127

High carrier frequency of the 35delG deafness mutation in European populations

26 September 2018

1 reference

https://api.crossref.org/works/10.1186/1479-5876-9-154

Genetic factors in aminoglycoside toxicity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21917135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1479-5876-9-154

1 reference

Dimensions Publication ID

7 August 2017

0 references

1 reference

7 August 2017

1 reference