(Q40519235)

English

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

scientific article published on December 2004

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15593220%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15593220%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Juan I Arostegui

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15593220%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Federico Argüelles-Arias

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15593220%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

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Anna Aldea

2

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6 January 2020

Consuelo Modesto

3

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6 January 2020

Maria Jesús Rua

4

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6 January 2020

Maria Antonia González-Enseñat

6

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6 January 2020

Eduardo Ramos

7

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6 January 2020

Josefa Rius

8

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6 January 2020

Susana Plaza

9

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6 January 2020

Jordi Vives

10

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6 January 2020

Jordi Yagüe

11

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6 January 2020

publication date

1 December 2004

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6 January 2020

Arthritis and Rheumatism

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Europe PubMed Central

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6 January 2020

50

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6 January 2020

12

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6 January 2020

4045-4050

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6 January 2020

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

Interleukin-1-receptor antagonist in the Muckle-Wells syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra

1 reference

https://api.crossref.org/works/10.1002%2FART.20633

21 January 2018

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