(Q57149270)

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Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Pendred syndrome

1 reference

based on heuristic

inferred from title

high-performance liquid chromatography

1 reference

based on heuristic

inferred from title

Richard C Trembath

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Richard J Smith

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

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Sai Prasad

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Karen A Kölln

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Robert A Cucci

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

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publication date

1 January 2004

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

124A

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Europe PubMed Central

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22 December 2019

1

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Europe PubMed Central

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22 December 2019

1-9

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Association of congenital deafness with goitre; the nature of the thyroid defect.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Two frequent missense mutations in Pendred syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20272

21 January 2018

Identifiers

10.1002/AJMG.A.20272

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14679580%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

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