(Q42786318)

7 November 2017

0 references

Periodic fevers enter the era of molecular diagnosis (English)

1 reference

7 November 2017

J P Drenth

1

1 reference

7 November 2017

J W van Der Meer

series ordinal

2

1 reference

7 November 2017

language of work or name

English

0 references

publication date

1 April 2000

1 reference

7 November 2017

1 reference

7 November 2017

320

1 reference

7 November 2017

7242

1 reference

7 November 2017

1091-1092

1 reference

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

7 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

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.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

Linkage of familial Hibernian fever to chromosome 12p13.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

Gene localization for an autosomal dominant familial periodic fever to 12p13

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

A candidate gene for familial Mediterranean fever

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127242

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

16 August 2018

1 reference

12 December 2020

Familial Mediterranean fever

1 reference

12 December 2020

MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

1 reference

12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1999. A 16-year-old boy with recurrent abdominal pain

1 reference

12 December 2020

10.1136/BMJ.320.7242.1091

Identifiers

DOI

1 reference

7 November 2017

1 reference

7 November 2017

PubMed publication ID

10775206

1 reference