(Q34080221)

30 July 2017

title

Characterisation and genetic mapping of a new X linked deafness syndrome (English)

1 reference

30 July 2017

1 reference

D M Martin

1

1 reference

30 July 2017

F J Probst

series ordinal

2

1 reference

30 July 2017

S A Camper

series ordinal

3

1 reference

30 July 2017

E M Petty

series ordinal

4

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 November 2000

1 reference

Journal of Medical Genetics

30 July 2017

published in

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30 July 2017

volume

37

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30 July 2017

issue

11

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30 July 2017

page(s)

836-841

1 reference

Deafness genes: expressions of surprise

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

5 July 2018

XLMR genes: update 1998.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

5 July 2018

Mapping of DFN2 to Xq22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

XNP mutation in a large family with Juberg-Marsidi syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

The 1993-94 Généthon human genetic linkage map

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Sex linked deafness: Wilde revisited

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734461

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11073537

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.37.11.836

1 reference

30 July 2017

1 reference

30 July 2017

1 reference