(Q50474383)

14 March 2018

title

Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. (English)

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14 March 2018

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10

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14 March 2018

Tsutomu Nakashima

3

Tsutomu Nakashima

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14 March 2018

Makoto Sugiura

1

Makoto Sugiura

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14 March 2018

Takahiko Yoshino

6

Takahiko Yoshino

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14 March 2018

Atsushi Furuhashi

5

Atsushi Furuhashi

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14 March 2018

author name string

Eisuke Sato

2

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14 March 2018

Junko Sugiura

4

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14 March 2018

Atsuo Nakayama

7

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14 March 2018

Naoyoshi Mori

8

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14 March 2018

Hideki Murakami

9

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14 March 2018

publication date

4 March 2005

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14 March 2018

European Archives of Oto-Rhino-Laryngology

published in

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14 March 2018

volume

262

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14 March 2018

issue

9

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14 March 2018

page(s)

737-743

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/s00405-004-0884-z

exact match

0 references

cites work

Long-term audiological feature in Pendred syndrome caused by PDS mutation

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00405-004-0884-Z

MR imaging of the cochlear modiolus: area measurement in healthy subjects and in patients with a large endolymphatic duct and sac.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00405-004-0884-Z

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

12 December 2020

Two frequent missense mutations in Pendred syndrome

1 reference

12 December 2020

Fluctuating and/or progressive sensorineural hearing loss in children.

1 reference

12 December 2020

Enlarged vestibular aqueduct syndrome in the pediatric population

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sensorineural hearing loss in patients with large vestibular aqueduct.

1 reference

12 December 2020

MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D fast asymmetric spin-echo sequence: volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlear modiolus.

1 reference

12 December 2020

The large vestibular aqueduct syndrome

1 reference

12 December 2020

Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome

1 reference

12 December 2020

Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene

1 reference

12 December 2020

10.1007/S00405-004-0884-Z

Identifiers

DOI

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14 March 2018

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14 March 2018