Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations (Q28185082)

2

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S Prasad

3

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G E Green

4

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J B Edeal

5

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C E Galer

6

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L P Karniski

7

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V C Sheffield

8

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R J Smith

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

9

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language of work or name

English

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publication date

May 2001

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published in

Human Mutation

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volume

17

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issue

5

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page(s)

403-11

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cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

21 January 2018

1 reference

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Radiological malformations of the ear in Pendred syndrome.

21 January 2018

1 reference

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

Pendred syndrome--100 years of underascertainment?

21 January 2018

1 reference

The Pendred syndrome gene encodes a chloride-iodide transport protein

21 January 2018

1 reference

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

21 January 2018

1 reference

Exclusion of Usher syndrome gene from much of chromosome 4.

21 January 2018

1 reference

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

21 January 2018

1 reference

Two frequent missense mutations in Pendred syndrome

21 January 2018

1 reference

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 January 2018

1 reference

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.1116

1 reference

Consolidated OpenCitations Corpus – April 2017

1769779

1769779

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference