(Q50431219)

13 March 2018

title

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. (English)

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13 March 2018

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1

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13 March 2018

author name string

Xianren Wang

series ordinal

2

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13 March 2018

Liang Sun

series ordinal

3

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13 March 2018

Hongyan Jiang

series ordinal

4

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13 March 2018

publication date

12 March 2012

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13 March 2018

Otolaryngology—Head and Neck Surgery

published in

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13 March 2018

volume

146

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13 March 2018

issue

6

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13 March 2018

page(s)

972-978

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13 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

21 January 2018

1 reference

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Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

21 January 2018

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Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

21 January 2018

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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

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/10.1177%2F0194599812439670

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

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F0194599812439670

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

21 January 2018

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Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

21 January 2018

1 reference

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Temporal bone imaging in GJB2 deafness.

21 January 2018

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Temporal bone abnormalities in children with GJB2 mutations

21 January 2018

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https://api.crossref.org/works/10.1177%2F0194599812439670

Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations

21 January 2018

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A new classification for cochleovestibular malformations

21 January 2018

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

21 January 2018

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Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

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

1 reference

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Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0194599812439670

21 January 2018

Identifiers

DOI

10.1177/0194599812439670

1 reference

13 March 2018

1 reference

13 March 2018