(Q28277791)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

J W M van der Meer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

R Vesely

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

U Myrdal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

K Yoshimura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

P Duys

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

J P H Drenth

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

International HIDS Study Group

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

language of work or name

English

0 references

publication date

18 October 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

269-273

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

Hereditary periodic fever

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): c

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis. Mutation in brief no. 257. Online

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness--the ECTIM, AXA, EVA and GENIC Studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

Criteria for the diagnosis of familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

The spectrum of Familial Mediterranean Fever (FMF) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEI138

10.1093/RHEUMATOLOGY/KEI138

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16234278%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference