(Q40421899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

The infevers autoinflammatory mutation online registry: update with new genes and functions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Hatem El-shanti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

6

Ivona Aksentijevich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Florian Milhavet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Laurence Cuisset

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Hal M Hoffman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Rima Slim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Suzanne Lesage

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Hans Waterham

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Cyril Sarrauste de Menthiere

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Isabelle Touitou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

1 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

803-808

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18409191%20AND%20SRC:MED&resulttype=core&format=json

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

UMD (Universal Mutation Database): 2005 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Recommendations of the 2006 Human Variome Project meeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

NALP1 in vitiligo-associated multiple autoimmune disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Hereditary periodic fever syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

A common pathway in periodic fever syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

CARD15 mutations in Blau syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021

Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20720

7 January 2021