(Q40432099)

English

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

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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:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

cryopyrin-associated periodic syndrome

1 reference

based on heuristic

inferred from title

Gesmar Rodrigues Silva Segundo

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Joao B. Oliveira

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Ivona Aksentijevich

4

object named as

Ivona Aksentijevich

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

2

object named as

Clovis A Silva

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Adriana A Jesus

1

1 reference

Europe PubMed Central

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29 December 2019

Erika Fujihira

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Mônica Watanabe

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Magda Carneiro-Sampaio

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Alberto J S Duarte

8

1 reference

Europe PubMed Central

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29 December 2019

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publication date

15 December 2007

1 reference

Europe PubMed Central

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29 December 2019

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

28

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Europe PubMed Central

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29 December 2019

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

134-138

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18080732%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

https://scigraph.springernature.com/pub.10.1007/s10875-007-9150-7

0 references

Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS10875-007-9150-7

21 January 2018

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent advances in the molecular pathogenesis of hereditary recurrent fevers

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CATERPILLERs, pyrin and hereditary immunological disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU

1 reference

https://pubmed.ncbi.nlm.nih.gov/18080732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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