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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
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Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
review article
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Europe PubMed Central
title
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
main subject
hearing loss
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based on heuristic
inferred from title
author
Richard J Smith
series ordinal
2
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stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
Guy Van Camp
series ordinal
3
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stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
author name string
Nele Hilgert
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
language of work or name
English
0 references
publication date
29 August 2008
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
published in
Mutation Research
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
volume
681
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
issue
2-3
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
page(s)
189-196
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
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Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
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Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
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28 July 2018
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
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28 July 2018
Newborn hearing screening--a silent revolution
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28 July 2018
GJB2 mutations and degree of hearing loss: a multicenter study
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28 July 2018
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness
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28 July 2018
Deafness genes and their diagnostic applications
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28 July 2018
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
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28 July 2018
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment
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28 July 2018
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
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28 July 2018
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
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PubMed Central
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28 July 2018
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
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28 July 2018
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene
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28 July 2018
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
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28 July 2018
Molecular analysis of the PDS gene in Pendred syndrome
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PubMed Central
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28 July 2018
Nonsyndromic hearing impairment: unparalleled heterogeneity
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A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
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30 October 2018
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
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30 October 2018
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
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30 October 2018
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).
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30 October 2018
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
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PubMed Central
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30 October 2018
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
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30 October 2018
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
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30 October 2018
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
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30 October 2018
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
retrieved
30 October 2018
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
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30 October 2018
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
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30 October 2018
Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
retrieved
30 October 2018
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
retrieved
30 October 2018
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
retrieved
30 October 2018
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
retrieved
30 October 2018
High carrier frequency of the 35delG deafness mutation in European populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847850
retrieved
30 October 2018
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18804553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mitochondrial deafness
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18804553
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.MRREV.2008.08.002
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
Fatcat ID
release_n7vrlyv3rbfobnyoy2r5wvkpqq
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/n7vrlyv3rbfobnyoy2r5wvkpqq
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PMC publication ID
2847850
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
PubMed publication ID
18804553
1 reference
stated in
Europe PubMed Central
PMC publication ID
2847850
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18804553%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 January 2020
ResearchGate publication ID
23269401
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