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Autoinflammatory gene mutations in Behçet's disease
scientific article
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instance of
scholarly article
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case report
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title
Autoinflammatory gene mutations in Behçet's disease
(English)
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main subject
Behçet's disease
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author
Raffaele Manna
object named as
R Manna
series ordinal
4
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author name string
I Koné-Paut
series ordinal
1
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E Sanchez
series ordinal
2
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A Le Quellec
series ordinal
3
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I Touitou
series ordinal
5
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language of work or name
English
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publication date
June 2007
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published in
Annals of the Rheumatic Diseases
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volume
66
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issue
6
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page(s)
832-4
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cites work
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
1 reference
stated in
PubMed Central
reference URL
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7 April 2017
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
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PubMed Central
reference URL
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retrieved
7 April 2017
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
retrieved
7 April 2017
A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
retrieved
28 September 2017
Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
retrieved
28 September 2017
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
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28 September 2017
Infevers: an evolving mutation database for auto-inflammatory syndromes
1 reference
stated in
PubMed Central
reference URL
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28 September 2017
MEFV mutations are increased in Behçet's disease (BD) and are associated with vascular involvement.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
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28 September 2017
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool
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stated in
PubMed Central
reference URL
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28 September 2017
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
retrieved
28 September 2017
MEFV mutations in Behçet's disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
retrieved
28 September 2017
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954666
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28 September 2017
Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005.
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PubMed Central
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28 November 2018
Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17213252
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17213252
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Association of the R92QTNFRSF1Amutation and extracranial deep vein thrombosis in patients with Behçet's disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17213252
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/ARD.2006.068841
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PMCID
1954666
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PubMed ID
17213252
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ResearchGate publication ID
6588648
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