(Q34440501)

English

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

0 references

1 reference

based on heuristic

inferred from title

7

object named as

Spurdle A

1 reference

Europe PubMed Central

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2 August 2017

10

object named as

Reis A

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Michèle Ramsay

1 reference

ORCID Public Data File 2021

author name string

Starfield M

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Hennies HC

2

1 reference

Europe PubMed Central

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2 August 2017

Jung M

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Jenkins T

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Wienker T

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Hull P

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Küster W

8

1 reference

Europe PubMed Central

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2 August 2017

Ramsay M

9

1 reference

Europe PubMed Central

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2 August 2017

language of work or name

0 references

publication date

1 August 1997

1 reference

Europe PubMed Central

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2 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

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2 August 2017

61

1 reference

Europe PubMed Central

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2 August 2017

2

1 reference

Europe PubMed Central

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2 August 2017

370-378

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

The genetics of human skin diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Close linkage of the two keratin gene clusters in the human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Cloning of the cDNA (DSC1) coding for human type 1 desmocollin and its assignment to chromosome 18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Erythrokeratolysis hiemalis. Erythematosquamous genetic dermatosis with seasonal manifestation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Intermediate filaments in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Organization of the human keratin type II gene cluster at 12q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Epidermolytic Palmo-plantar Keratoderma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

A family with palmoplantar epidermolytic hyperkeratosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Erythrokeratolysis hiemalis--keratolytic winter erythema or 'Oudtshoorn Skin'. A new epidermal genodermatosis with its histological features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

6 July 2018

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

27 October 2018

Familial hypercholesterolaemia--a common genetic disorder in the Afrikaans population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715911

27 October 2018

Genealogical study of lipoid proteinosis in South Africa

1 reference

https://pubmed.ncbi.nlm.nih.gov/9311742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report and abstracts of the second international workshop on human chromosome 18 mapping. Doorwerth, the Netherlands, July 19-20, 1993

1 reference

https://pubmed.ncbi.nlm.nih.gov/9311742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21

1 reference

https://pubmed.ncbi.nlm.nih.gov/9311742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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2 August 2017

release_pnsce6grkrb2dexpafleswzqda

1 reference

https://api.fatcat.wiki/v0/release/pnsce6grkrb2dexpafleswzqda

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

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Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

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2 August 2017

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