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

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

21 January 2018

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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

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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

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

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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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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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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13 March 2018

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13 March 2018