(Q24535763)

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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

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

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 (English)

1 reference

Europe PubMed Central

4 July 2017

1 reference

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2

object named as

Galon J

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Europe PubMed Central

4 July 2017

author name string

Aksentijevich I

1

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Europe PubMed Central

4 July 2017

Soares M

3

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Europe PubMed Central

4 July 2017

Mansfield E

4

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Europe PubMed Central

4 July 2017

Hull K

5

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Europe PubMed Central

4 July 2017

Oh HH

6

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Europe PubMed Central

4 July 2017

Goldbach-Mansky R

7

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Europe PubMed Central

4 July 2017

Dean J

8

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Europe PubMed Central

4 July 2017

Athreya B

9

1 reference

Europe PubMed Central

4 July 2017

Reginato AJ

10

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Europe PubMed Central

4 July 2017

Henrickson M

11

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Europe PubMed Central

4 July 2017

Pons-Estel B

12

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Europe PubMed Central

4 July 2017

O'Shea JJ

13

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Europe PubMed Central

4 July 2017

Kastner DL

14

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Europe PubMed Central

4 July 2017

language of work or name

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publication date

6 July 2001

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Europe PubMed Central

4 July 2017

American Journal of Human Genetics

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Europe PubMed Central

4 July 2017

69

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Europe PubMed Central

4 July 2017

301-314

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Europe PubMed Central

4 July 2017

2

1 reference

Europe PubMed Central

4 July 2017

Identification of a locus on chromosome 1q44 for familial cold urticaria

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24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

24 March 2017

Structures of the extracellular domain of the type I tumor necrosis factor receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

24 March 2017

Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation

1 reference

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24 March 2017

The future of genetic studies of complex human diseases

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

7 April 2017

Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

An autosomal dominant periodic fever associated with AA amyloidosis in a north Indian family maps to distal chromosome 1q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

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

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27 September 2017

The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

Linkage of familial Hibernian fever to chromosome 12p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

A candidate gene for familial Mediterranean fever

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

27 September 2017

Familial Hibernian fever

1 reference

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27 September 2017

Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis

1 reference

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27 September 2017

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

30 May 2018

The Réunion paradox and the digenic model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

30 May 2018

Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13 [corrected]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

30 May 2018

Periodic fevers enter the era of molecular diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235304

29 November 2018

The new genomics: global views of biology

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https://pubmed.ncbi.nlm.nih.gov/11443543

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443543

12 December 2020

based on heuristic

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Identification of novel polymorphisms in the human TNFR1 gene: distribution in acute leukemia patients and healthy individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443543

12 December 2020

based on heuristic

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A polymorphic microsatellite marker in the human p55 TNF receptor, CD120a

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443543

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variations on a theme: cataloging human DNA sequence variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443543

12 December 2020

based on heuristic

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A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

1 reference

https://api.crossref.org/works/10.1086%2F321976

7 January 2021

based on heuristic

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Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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