(Q58438644)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

Torchard D

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Blanchet-Bardon C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Serova O

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Langbein L

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Janin N

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Goguel AF

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Bernheim A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Lenoir GM

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

English

0 references

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

106-110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng0194-106

20 October 2019

exact match

0 references

cites work

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

High-density genetic map of the BRCA1 region of chromosome 17q12-q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and soles

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Distribution of a special subset of keratinocytes characterized by the expression of cytokeratin 9 in adult and fetal human epidermis of various body sites

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Linkage of early-onset familial breast cancer to chromosome 17q21

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Familial breast-ovarian cancer locus on chromosome 17q12-q23

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Keratosis punctata palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate keratoderma and gastrointestinal malignancy

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Familial ovarian cancer: a population-based case-control study

1 reference

https://api.crossref.org/works/10.1038%2FNG0194-106

7 January 2021

Identifiers

DOI

10.1038/NG0194-106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7511021%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference