(Q33644508)

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Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

scientific article published on July 26, 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice (English)

1 reference

10.1371/JOURNAL.PONE.0011804

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0011804

12 June 2024

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Juan Rodriguez-Paris

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Lynn Pique

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Tahl Colen

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Joseph Roberson

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Phyllis Gardner

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Iris Schrijver

6

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Europe PubMed Central

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28 July 2017

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publication date

26 July 2010

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Europe PubMed Central

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28 July 2017

full work available at URL

https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0011804&type=printable

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668687

12 June 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20668687/?tool=EBI

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668687

12 June 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20668687/pdf/?tool=EBI

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668687

12 June 2024

https://europepmc.org/articles/PMC2909915

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content deliverer

Europe PubMed Central

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668687

12 June 2024

https://europepmc.org/articles/PMC2909915?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668687

12 June 2024

http://dx.plos.org/10.1371/journal.pone.0011804

1 reference

10.1371/JOURNAL.PONE.0011804

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0011804

12 June 2024

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

7

1 reference

Europe PubMed Central

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28 July 2017

e11804

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Europe PubMed Central

PubMed publication ID

28 July 2017

copyright license

Creative Commons Attribution 4.0 International

26 July 2010

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April 2022 Public Data File from Crossref

copyright status

0 references

Inherited hearing loss: molecular genetics and diagnostic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Genetics of congenital hearing impairment: a clinical approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Development of a genotyping microarray for Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Pathogenetic role of the deafness-related M34T mutation of Cx26.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Newborn hearing screening--a silent revolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Human Nonsyndromic Sensorineural Deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

Pendred syndrome--100 years of underascertainment?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

21 June 2018

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011804

21 January 2018

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011804

21 January 2018

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011804

21 January 2018

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011804

21 January 2018

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0011804

21 January 2018

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909915

30 October 2018

Mitochondrial deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/20668687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation detection by solid phase primer extension

1 reference

https://pubmed.ncbi.nlm.nih.gov/20668687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early hearing detection and intervention programs: opportunities for genetic services

1 reference

https://pubmed.ncbi.nlm.nih.gov/20668687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-term effects of intravitreal bevacizumab for subfoveal choroidal neovascularization in pathologic myopia

6

1 reference

10.1371/JOURNAL.PONE.0011804

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0011804

12 June 2024

Identifiers

10.1371/JOURNAL.PONE.0011804

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2010PLoSO...511804R

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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