(Q36927052)

17 August 2017

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome (English)

1 reference

17 August 2017

1 reference

Ethylin Wang Jabs

5

0 references

author name string

Andrew J Griffith

1

1 reference

17 August 2017

Yandan Yang

2

1 reference

17 August 2017

Shannon P Pryor

3

1 reference

17 August 2017

Hong-Joon Park

4

1 reference

17 August 2017

Joseph B Nadol

6

1 reference

17 August 2017

Laura J Russell

7

1 reference

17 August 2017

Daniel I Wasserman

8

1 reference

17 August 2017

Gabriele Richard

9

1 reference

17 August 2017

Joe C Adams

10

1 reference

17 August 2017

Saumil N Merchant

11

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 August 2006

1 reference

17 August 2017

5

1 reference

based on heuristic

inferred from page(s)

published in

The Laryngoscope

1 reference

17 August 2017

116

1 reference

17 August 2017

8

1 reference

17 August 2017

1404-1408

1 reference

Human Nonsyndromic Sensorineural Deafness

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problem

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Temporal bone histopathology in connexin 26-related hearing loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Temporal bone findings in keratitis, ichthyosis, and deafness syndrome. Case report

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563154

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1097%2F01.MLG.0000224549.75161.CA

Congenital Deafness, Spiny Hyperkeratosis, and Universal Alopecia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16885744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fatal keratitis ichthyosis and deafness syndrome (KIDS). Aural, ocular, and cutaneous histopathology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16885744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/01.MLG.0000224549.75161.CA

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

16885744

1 reference