(Q30480555)

English

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

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20504331%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20504331%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Christine Petit

14

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3 February 2020

5

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3 February 2020

author name string

Da-Yong Wang

1

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3 February 2020

Yi-Chen Wang

2

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3 February 2020

Dominique Weil

3

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3 February 2020

Ya-Li Zhao

4

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3 February 2020

Liang Zong

6

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3 February 2020

Yu-Bin Ji

7

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3 February 2020

Qiong Liu

8

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3 February 2020

Jian-Qiang Li

9

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3 February 2020

Huan-Ming Yang

10

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3 February 2020

Yan Shen

11

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3 February 2020

Cindy Benedict-Alderfer

12

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3 February 2020

Qing-Yin Zheng

13

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3 February 2020

Qiu-Ju Wang

15

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3 February 2020

publication date

26 May 2010

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3 February 2020

BMC Medical Genetics

1 reference

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3 February 2020

11

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3 February 2020

79

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3 February 2020

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-79

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Auditory neuropathy: endocochlear lesion or temporal processing impairment? Implications for diagnosis and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Auditory neuropathy/dys-synchrony and its perceptual consequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Clinical and audiological features in auditory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Genetic causes of hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Transient deafness due to temperature-sensitive auditory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

Auditory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

20 June 2018

The varieties of auditory neuropathy.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-79

21 January 2018

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-79

21 January 2018

Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-79

21 January 2018

AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-79

21 January 2018

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

3 references

https://api.crossref.org/works/10.1186%2F1471-2350-11-79

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

26 November 2018

https://pubmed.ncbi.nlm.nih.gov/20504331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Genetic study of hearing loss in families from Argentina].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

26 November 2018

A nematode gene required for sperm vesicle fusion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901213

26 November 2018

Auditory fidelity

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-79

21 January 2018

Identifiers

10.1186/1471-2350-11-79

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20504331%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20504331%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20504331%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

ResearchGate publication ID

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