(Q43937302)

28 November 2017

title

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies (English)

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28 November 2017

8

Paolo Beck-Peccoz

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author name string

Laura Fugazzola

1

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28 November 2017

Nadia Cerutti

2

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28 November 2017

Deborah Mannavola

3

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28 November 2017

Antonino Crino

4

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28 November 2017

Alessandra Cassio

5

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28 November 2017

Pietro Gasparoni

6

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28 November 2017

Guia Vannucchi

7

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28 November 2017

language of work or name

English

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publication date

1 April 2002

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28 November 2017

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28 November 2017

volume

51

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28 November 2017

issue

4

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28 November 2017

page(s)

479-484

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https://scigraph.springernature.com/pub.10.1203/00006450-200204000-00013

28 November 2017

exact match

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cites work

DEAF-MUTISM AND GOITRE

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Pendred syndrome--100 years of underascertainment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Two frequent missense mutations in Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Radiological malformations of the ear in Pendred syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Familial large vestibular aqueduct syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

MRI of enlarged endolymphatic sacs in the large vestibular aqueduct syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Large vestibular aqueduct syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Deafness genes: expressions of surprise

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Compression in the Time Domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

Immunologic alterations in patients with sensorineural hearing disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200204000-00013

10.1203/00006450-200204000-00013

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

28 November 2017

1047891866

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1 reference