(Q43169359)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

main subject

peripheral neuropathy

1 reference

Q J Wang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Q Z Li

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

K Lee

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

X S Huang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

W Y Yang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

S Q Zhai

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

W W Guo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Y F Guo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

N Yu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Y L Zhao

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

H Yuan

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

J Guan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

D Y Han

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Y Shen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

language of work or name

English

0 references

publication date

1 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

e33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

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

26 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

A combined linkage-physical map of the human genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Genomics and variation of ionotropic glutamate receptors

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Familial auditory neuropathy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

New autoantibody mediated disorders of the central nervous system

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Positive associations of polymorphisms in the metabotropic glutamate receptor type 3 gene (GRM3) with schizophrenia

25 May 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

25 May 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

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

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Cloning and functional expression of a human Na(+) and Cl(-)-dependent neutral and cationic amino acid transporter B(0+)

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Dysfunction of medial olivocochlear system and its audiological test

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Incorrect specification of marker allele frequencies: effects on linkage analysis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Faster sequential genetic linkage computations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Strategies for multilocus linkage analysis in humans

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

The varieties of auditory neuropathy.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

Absent auditory brain stem response: peripheral hearing loss or brain stem dysfunction?

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564562

[Central low frequency hearing loss]

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16816020

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16816020

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.037929

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816020%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

16816020

1 reference