1.
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
by Giancane, Gabriella
Annals of the Rheumatic Diseases, 2015, Vol.74 (4), p.635-641
2.
Familial Mediterranean fever, review of the literature
by Alghamdi, Mansour
Clinical rheumatology, 2017, Vol.36 (8), p.1707-1713
3.
Familial Mediterranean fever—A review
by Shohat, Mordechai
Genetics in medicine, 2011, Vol.13 (6), p.487-498
4.
Regulated in development and DNA damage responses 1 (REDD1) links stress with IL-1β–mediated familial Mediterranean fever attack through autophagy-driven neutrophil extracellular t...
by Skendros, Panagiotis
Journal of allergy and clinical immunology, 2017, Vol.140 (5), p.1378-1387.e13
5.
An International registry on Autoinflammatory diseases: the Eurofever experience
by Toplak, Natasa
Annals of the rheumatic diseases, 2012, Vol.71 (7), p.1177-1182
6.
DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes
by Vento-Tormo, Roser, PhD
Journal of allergy and clinical immunology, 2016, Vol.139 (1), p.202-211.e6
7.
The expanded spectrum of arthritis in children with familial Mediterranean fever
by Avar-Aydın, Pinar Ozge
Clinical rheumatology, 2022, Vol.41 (5), p.1535-1541
8.
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children
by Ozen, Seza
Annals of the rheumatic diseases, 2014, Vol.73 (4), p.662-667
9.
Genotype–phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients
by Beshlawy, Amal El
Clinical rheumatology, 2022, Vol.41 (5), p.1511-1521
10.
Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed
by Stoffels, Monique
Annual review of genomics and human genetics, 2016, Vol.17 (1), p.245-272
11.
Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype
by Omenetti, Alessia
Annals of the Rheumatic Diseases, 2014, Vol.73 (2), p.462-469
12.
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
by Ravet, N
Annals of the rheumatic diseases, 2006, Vol.65 (9), p.1158-1162
13.
Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease
by Ozen, S
Annals of the rheumatic diseases, 2009, Vol.68 (2), p.246-248
14.
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
by Touitou, Isabelle
Journal of Medical Genetics, 2013, Vol.50 (6), p.349-359
15.
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein
by Ryan, J G
Annals of the Rheumatic Diseases, 2010, Vol.69 (7), p.1360-1388
16.
Clinical significance of MEFV gene variation R202Q
by Kandur, Yaşar
Clinical rheumatology, 2021, Vol.41 (1), p.271-274
18.
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population
by Federici, Silvia
Annals of the rheumatic diseases, 2012, Vol.71 (12), p.1961-1965
19.
Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic
by Zadeh, Neda
Genetics in medicine, 2011, Vol.13 (3), p.263-269
20.
Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations
by BEHESHTIAN, MARYAM
Journal of genetics, 2016, Vol.95 (3), p.667-674
