(Q50482387)

English

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

scientific article published on December 1, 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese (English)

1 reference

10.1038/SJ.EJHG.5201073

https://api.crossref.org/works/10.1038/SJ.EJHG.5201073

14 March 2024

1 reference

based on heuristic

inferred from title

Pendred syndrome

1 reference

based on heuristic

inferred from title

enlarged vestibular aqueduct

1 reference

based on heuristic

inferred from title

missense mutation

1 reference

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%3A14508505

14 March 2024

1 reference

10.1038/SJ.EJHG.5201073

https://api.crossref.org/works/10.1038/SJ.EJHG.5201073

14 March 2024

author name string

Koji Tsukamoto

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

Hiroaki Suzuki

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

Daisuke Harada

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

Atsushi Namba

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

Satoko Abe

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

Shin-ichi Usami

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14508505

14 March 2024

publication date

1 December 2003

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

full work available at URL

https://www.nature.com/articles/5201073.pdf

Portable Document Format

online access status

1 reference

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%3A14508505

14 March 2024

http://www.nature.com/articles/5201073.pdf

Portable Document Format

1 reference

10.1038/SJ.EJHG.5201073

https://api.crossref.org/works/10.1038/SJ.EJHG.5201073

14 March 2024

http://www.nature.com/articles/5201073

1 reference

10.1038/SJ.EJHG.5201073

https://api.crossref.org/works/10.1038/SJ.EJHG.5201073

14 March 2024

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

11

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

12

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

916-922

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

DEAF-MUTISM AND GOITRE

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Pendred syndrome--100 years of underascertainment?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Two frequent missense mutations in Pendred syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

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/10.1038%2FSJ.EJHG.5201073

21 January 2018

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

A novel mutation in the pendrin gene associated with Pendred's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Radiological malformations of the ear in Pendred syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

21 January 2018

The Large Vestibular Aqueduct Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

7 January 2021

based on heuristic

inferred from DOI database lookup

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

7 January 2021

based on heuristic

inferred from DOI database lookup

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201073

7 January 2021

based on heuristic

inferred from DOI database lookup

Journal of Medical Genetics

17

36

475

author name string

PJ Coucke

publication date

1999

1 reference

10.1038/SJ.EJHG.5201073

https://api.crossref.org/works/10.1038/SJ.EJHG.5201073

14 March 2024

Identifiers

10.1038/SJ.EJHG.5201073

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/14508505

ResearchGate publication ID

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