(Q24539101)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

1 reference

1

1 reference

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4 November 2019

David P. Kelsell

9

1 reference

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4 November 2019

Shin-ichi Ansai

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Alain Hovnanian

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

C Garner

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Bodemer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Ali

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

D H Teillac

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J Wilkinson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J L Bonafé

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Paradisi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Y Mitsuhashi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Larrègue

12

1 reference

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4 November 2019

I M Leigh

13

1 reference

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4 November 2019

J I Harper

14

1 reference

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4 November 2019

A Taïeb

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Y d Prost

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

L R Cardon

17

1 reference

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4 November 2019

language of work or name

English

0 references

publication date

1 March 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

66

1 reference

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4 November 2019

issue

3

1 reference

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4 November 2019

page(s)

914-921

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Targeted disruption of the beta2 adrenergic receptor gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Structure and organization of the human transglutaminase 3 gene: evolutionary relationship to the transglutaminase family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Genetic susceptibility to asthma--bronchial hyperresponsiveness coinherited with a major gene for atopy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Faster sequential genetic linkage computations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Genes that regulate eosinophilic inflammation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Control of simian virus 40 DNA replication by the HeLa cell nuclear kinase casein kinase I.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Dinucleotide repeat polymorphism at the human interleukin 9 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

A unique case of trichorrhexis nodosa; bamboo hairs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Association study of asthma and atopy traits and chromosome 5q cytokine cluster markers.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

A casein kinase I isoform is required for proper cell cycle progression in the fertilized mouse oocyte.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Stimulus-dependent phosphorylation of G-protein-coupled receptors by casein kinase 1alpha

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Neterton's syndrome and ichthyosis linearis circumflexa.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

A new chromosomal protein essential for mitotic spindle assembly

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288172

29 November 2018

1 reference

12 December 2020

Neonatal hypernatraemia in two siblings with Netherton's syndrome

1 reference

12 December 2020

Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations

1 reference

12 December 2020

A clinical and immunological study of Netherton's syndrome

1 reference

12 December 2020

Evidence for a locus regulating total serum IgE levels mapping to chromosome 5

1 reference

12 December 2020

Evidence for linkage of total serum IgE and bronchial hyperresponsiveness to chromosome 5q: a major regulatory locus important in asthma

1 reference

12 December 2020

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

12 December 2020

Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome

1 reference

12 December 2020

Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor

1 reference

12 December 2020

1 reference

12 December 2020

Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa

1 reference

12 December 2020

Identifiers

DOI

10.1086/302824

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712206%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

10712206

1 reference