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English
Genetics: advances in genetic testing for deafness
scientific article published on December 2012
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
title
Genetics: advances in genetic testing for deafness
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
main subject
deafness
1 reference
based on heuristic
inferred from title
author
Richard J Smith
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
author name string
A Eliot Shearer
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
publication date
1 December 2012
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
published in
Current Opinion in Pediatrics
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
volume
24
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
issue
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
page(s)
679-686
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
cites work
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
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=3694178
retrieved
6 September 2017
A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach
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=3694178
retrieved
6 September 2017
Deafness in the genomics era
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=3694178
retrieved
6 September 2017
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
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=3694178
retrieved
6 September 2017
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64
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=3694178
retrieved
6 September 2017
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive 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=3694178
retrieved
6 September 2017
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and 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=3694178
retrieved
6 September 2017
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
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=3694178
retrieved
6 September 2017
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
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=3694178
retrieved
6 September 2017
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
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=3694178
retrieved
6 September 2017
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
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=3694178
retrieved
6 September 2017
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74
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=3694178
retrieved
6 September 2017
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
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=3694178
retrieved
6 September 2017
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
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=3694178
retrieved
6 September 2017
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
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=3694178
retrieved
6 September 2017
Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice
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=3694178
retrieved
6 September 2017
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
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=3694178
retrieved
6 September 2017
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
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=3694178
retrieved
6 September 2017
Newborn hearing screening--a silent revolution
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=3694178
retrieved
6 September 2017
Identifiers
DOI
10.1097/MOP.0B013E3283588F5E
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
PMC publication ID
3694178
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
PubMed publication ID
23042251
1 reference
stated in
Europe PubMed Central
PMC publication ID
3694178
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042251%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 March 2020
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