(Q50489691)

14 March 2018

title

Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome. (English)

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14 March 2018

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C Stinckens

1

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14 March 2018

P L Huygen

2

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14 March 2018

F B Joosten

3

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14 March 2018

G Van Camp

4

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14 March 2018

B Otten

5

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14 March 2018

C W Cremers

6

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14 March 2018

publication date

1 December 2001

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14 March 2018

International Journal of Pediatric Otorhinolaryngology

published in

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14 March 2018

volume

61

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14 March 2018

issue

3

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14 March 2018

page(s)

207-215

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14 March 2018

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

cites work

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https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Radiological malformations of the ear in Pendred syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

DEAF-MUTISM AND GOITRE

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Two frequent missense mutations in Pendred syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

The large vestibular aqueduct syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Sensorineural hearing loss in patients with large vestibular aqueduct.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Magnetic resonance imaging of the large vestibular aqueduct

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

The Large Vestibular Aqueduct Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900573-0

7 January 2021

10.1016/S0165-5876(01)00573-0

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018