(Q36406233)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Guidelines for the genetic diagnosis of hereditary recurrent fevers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Isabella Ceccherini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Tamara Sarkisian

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Y Shinar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

I Aksentijevich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

B Bennetts

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

F Austrup

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

J M Costa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

A De Leener

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

M Gattorno

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

U Kania

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

I Kone-Paut

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

S Lezer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

A Livneh

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

I Moix

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

R Nishikomori

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

S Ozen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

L Phylactou

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

L Risom

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

D Rowczenio

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

M E van Gijn

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

M Witsch-Baumgartner

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

M Morris

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

H M Hoffman

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

I Touitou

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

European Molecular Genetics Quality Network

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

language of work or name

English

0 references

publication date

1 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

Annals of the Rheumatic Diseases

3 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

1599-1605

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

Application of UKHCDO 2004 guidelines in type 1 von Willebrand Disease--a single centre paediatric experience of the implications of altered or removed diagnosis

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Clinical disease among patients heterozygous for familial Mediterranean fever

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

The clinical spectrum of 94 patients carrying a single mutated MEFV allele

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Web resources for rare auto-inflammatory diseases: towards a common patient registry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

The infevers autoinflammatory mutation online registry: update with new genes and functions.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Infevers: an evolving mutation database for auto-inflammatory syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

The spectrum of Familial Mediterranean Fever (FMF) mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Clinical versus genetic diagnosis of familial Mediterranean fever

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

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.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Autoinflammatory diseases: the hereditary periodic fever syndromes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500529

Familial Mediterranean fever

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22661645

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Orphanet: a European database for rare diseases]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22661645

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ANNRHEUMDIS-2011-201271

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

22661645

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22661645%20AND%20SRC:MED&resulttype=core&format=json