Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever (Q38335115)

2 September 2017

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title

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever (English)

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2 September 2017

11

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2 September 2017

20

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2 September 2017

Jasmin Kümmerle-Deschner

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Jasmin Kuemmerle-Deschner

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2 September 2017

Nienke M Ter Haar

2

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Jordi Anton

Jordi Anton

9

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Helen J Lachmann

Helen J Lachmann

19

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Nico M Wulffraat

3

Nico Wulffraat

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2 September 2017

Gabriella Giancane

1

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2 September 2017

Sebastiaan J Vastert

4

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2 September 2017

Karyl Barron

5

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2 September 2017

Veronique Hentgen

6

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2 September 2017

Tilmann Kallinich

7

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2 September 2017

Huri Ozdogan

8

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2 September 2017

Paul Brogan

10

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2 September 2017

Joost Frenkel

12

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2 September 2017

Caroline Galeotti

13

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Marco Gattorno

14

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2 September 2017

Gilles Grateau

15

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2 September 2017

Michael Hofer

16

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2 September 2017

Isabelle Kone-Paut

17

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Erkan Demirkaya

21

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2 September 2017

Brian Feldman

22

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Yosef Uziel

23

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Seza Ozen

24

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2 September 2017

language of work or name

English

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publication date

27 January 2015

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Annals of the Rheumatic Diseases

2 September 2017

published in

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2 September 2017

volume

74

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2 September 2017

issue

4

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2 September 2017

page(s)

635-641

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Genetics of monogenic autoinflammatory diseases: past successes, future challenges

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Familial mediterranean Fever in the world

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Evidence-based recommendations for the practical management of Familial Mediterranean Fever

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

A candidate gene for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

EULAR standardised operating procedures for the elaboration, evaluation, dissemination, and implementation of recommendations endorsed by the EULAR standing committees

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

EULAR evidence based recommendations for gout. Part I: Diagnosis. Report of a task force of the Standing Committee for International Clinical Studies Including Therapeutics (ESCISIT)

21 January 2018

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A Group Process Model for Problem Identification and Program Planning

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Clinical versus genetic diagnosis of familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Familial Mediterranean fever. A survey of 470 cases and review of the literature

21 January 2018

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https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Criteria for the diagnosis of familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

A new set of criteria for the diagnosis of familial Mediterranean fever in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Clinical differences between North African and Iraqi Jews with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

21 January 2018

1 reference

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MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Familial Mediterranean fever: prevalence, penetrance and genetic drift

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2014-206844

10.1136/ANNRHEUMDIS-2014-206844

21 January 2018

Identifiers

DOI

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2 September 2017

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