High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. (Q50317160)

3 March 2018

title

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. (English)

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3 March 2018

Auditory neuropathy spectrum disorder

main subject

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author

Christine Petit

13

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3 March 2018

author name string

Q-J Zhang

1

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B Han

2

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L Lan

3

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L Zong

4

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3 March 2018

W Shi

5

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H-Y Wang

6

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L-Y Xie

7

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H Wang

8

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C Zhao

9

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C Zhang

10

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Z-F Yin

11

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D-Y Wang

12

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J Guan

14

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Q-J Wang

15

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publication date

27 January 2016

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3 March 2018

published in

Clinical Genetics

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volume

90

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page(s)

238-246

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issue

3

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The varieties of auditory neuropathy.

21 January 2018

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Auditory neuropathy spectrum disorder: a review

21 January 2018

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The genetic basis of auditory neuropathy spectrum disorder (ANSD).

21 January 2018

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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

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Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

21 January 2018

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Screening of OTOF mutations in Iran: a novel mutation and review

21 January 2018

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Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

21 January 2018

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Temperature sensitive auditory neuropathy

21 January 2018

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OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.

21 January 2018

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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

21 January 2018

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

21 January 2018

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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

21 January 2018

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Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.

21 January 2018

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A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

21 January 2018

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Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

21 January 2018

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Novel OTOF mutations in Brazilian patients with auditory neuropathy.

21 January 2018

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OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

21 January 2018

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Genetic analysis of auditory neuropathy spectrum disorder in the Korean population.

21 January 2018

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A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy

21 January 2018

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Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

21 January 2018

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Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder

21 January 2018

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Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12744

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3 March 2018

PubMed ID

26818607

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3 March 2018