(Q39790268)

14 September 2017

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations (English)

1 reference

14 September 2017

0 references

Cyril Sarrauste de Menthière

1

1 reference

14 September 2017

Stéphane Terrière

2

1 reference

14 September 2017

Denis Pugnère

3

1 reference

14 September 2017

Manuel Ruiz

4

1 reference

14 September 2017

Jacques Demaille

5

1 reference

14 September 2017

Isabelle Touitou

6

1 reference

14 September 2017

language of work or name

English

0 references

publication date

1 January 2003

1 reference

14 September 2017

Nucleic Acids Research

1 reference

14 September 2017

31

1 reference

14 September 2017

1

1 reference

14 September 2017

282-285

1 reference

The MetaFMF website: a high quality tool for meta-analysis of FMF.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

Hereditary periodic fever

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

Hereditary periodic fever syndromes.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

A candidate gene for familial Mediterranean fever

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165478

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12520003

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKG031

1 reference

journals/nar/MenthiereTPRDT03

14 September 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

14 September 2017

PubMed publication ID

12520003

1 reference