Similar phenotypes caused by mutations in OTOG and OTOGL. (Q30412991)

22 August 2017

Similar phenotypes caused by mutations in OTOG and OTOGL. (English)

1 reference

22 August 2017

Ignacio del Castillo

6

0 references

Mustafa Tekin

object named as

Mustafa Tekin

7

0 references

Hannie Kremer

12

object named as

Hannie Kremer

1 reference

Adrianus Franciscus Maria Snik

22 August 2017

11

object named as

Ad F M Snik

1 reference

22 August 2017

8

Ilse Feenstra

1 reference

22 August 2017

4

Margit Schraders

1 reference

22 August 2017

13

Ronald J C Admiraal

1 reference

22 August 2017

10

Henricus P M Kunst

1 reference

22 August 2017

Anne M M Oonk

1

1 reference

22 August 2017

Joop M Leijendeckers

2

1 reference

22 August 2017

Patrick L M Huygen

3

1 reference

22 August 2017

Miguel del Campo

5

1 reference

22 August 2017

Andy J Beynon

9

1 reference

22 August 2017

Ronald J E Pennings

14

1 reference

22 August 2017

1 May 2014

1 reference

22 August 2017

1 reference

22 August 2017

35

1 reference

22 August 2017

3

1 reference

22 August 2017

e84-91

1 reference

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Autosomal recessive nonsyndromic deafness genes: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Deafness in the genomics era

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Vestibular function in families with inherited autosomal dominant hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Nonsyndromic hearing loss.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Targeted disruption of otog results in deafness and severe imbalance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

The Würzburg auditory field, a test for prosthetic audiometry

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Improving the reliability of testing the speech reception threshold for sentences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

The phenotype of DFNA13/COL11A2.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

The Relationship between Magnitude of Hearing Loss and Acoustic Reflex Threshold Levels

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999258

Vestibular hyperreactivity and hyperventilation

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24378291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mapping of the otogelin gene (OTGN) to mouse Chromosome 7 and human Chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24378291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/AUD.0000000000000008

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

24378291

1 reference