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

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4 November 2019

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4 November 2019

David P. Kelsell

9

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4 November 2019

Shin-ichi Ansai

10

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4 November 2019

Alain Hovnanian

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4 November 2019

author name string

C Garner

2

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4 November 2019

C Bodemer

3

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4 November 2019

M Ali

4

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4 November 2019

D H Teillac

5

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4 November 2019

J Wilkinson

6

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4 November 2019

J L Bonafé

7

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4 November 2019

M Paradisi

8

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4 November 2019

Y Mitsuhashi

11

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4 November 2019

M Larrègue

12

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4 November 2019

I M Leigh

13

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4 November 2019

J I Harper

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4 November 2019

A Taïeb

15

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4 November 2019

Y d Prost

16

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4 November 2019

L R Cardon

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4 November 2019

language of work or name

English

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publication date

1 March 2000

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American Journal of Human Genetics

4 November 2019

published in

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volume

66

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issue

3

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4 November 2019

page(s)

914-921

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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

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

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24 March 2017

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24 March 2017

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

24 March 2017

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24 March 2017

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7 April 2017

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Genes that regulate eosinophilic inflammation

7 April 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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Dinucleotide repeat polymorphism at the human interleukin 9 gene

27 September 2017

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A unique case of trichorrhexis nodosa; bamboo hairs

27 September 2017

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

30 May 2018

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

30 May 2018

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

30 May 2018

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Neterton's syndrome and ichthyosis linearis circumflexa.

30 May 2018

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30 May 2018

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29 November 2018

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29 November 2018

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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

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12 December 2020

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12 December 2020

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

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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

1 reference