(Q73578880)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730756%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family (English)

1 reference

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5 November 2019

1 reference

1 reference

1

1 reference

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5 November 2019

8

G A Rouleau

1 reference

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5 November 2019

2

D Laoudj

1 reference

5 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730756%20AND%20SRC:MED&resulttype=core&format=json

author name string

C Blanchet-Bardon

3

1 reference

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5 November 2019

Z Kibar

4

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5 November 2019

P Soularue

5

1 reference

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5 November 2019

V Ridoux

6

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5 November 2019

L Dubertret

7

1 reference

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5 November 2019

G Waksman

9

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5 November 2019

language of work or name

English

0 references

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730756%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

5 November 2019

published in

1 reference

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5 November 2019

volume

142

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5 November 2019

issue

2

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5 November 2019

page(s)

248-252

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The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11-q12.1 with Evidence for Multiple Independent Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03292.X

10.1046/J.1365-2133.2000.03292.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730756%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference