Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review

Genotype-phenotype correlation in FMF patients: A “non classic” recessive autosomal or “atypical” dominant autosomal inheritance?

(2018) V. Procopio et al.   GENE

The spectrum of Familial Mediterranean Fever gene ( MEFV ) mutations and genotypes in Iran, and report of a novel missense variant (R204H)

(2017) Nader Ebadi et al.   European Journal of Medical Genetics

The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever

(2017) Djouher Ait-Idir et al.   European Journal of Medical Genetics

R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever

(2017) Ö. Fentoğlu et al.   JOURNAL OF PERIODONTAL RESEARCH

EULAR recommendations for the management of familial Mediterranean fever: Table 1

(2016) Seza Ozen et al.   ANNALS OF THE RHEUMATIC DISEASES

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

(2016) José Hernández-Rodríguez et al.   AUTOIMMUNITY REVIEWS

Late-onset disease is associated with a mild phenotype in children with familial Mediterranean fever

(2016) Semanur Özdel et al.   CLINICAL RHEUMATOLOGY

Evaluation of subclinical inflammation in familial Mediterranean fever patients: relations with mutation types and attack status: a retrospective study

(2016) Fatih Mehmet Kelesoglu et al.   CLINICAL RHEUMATOLOGY

Serum Amyloid A Type 1 Gene Polymorphism in Egyptian Children with Familial Mediterranean Fever

(2016) Manal Wilson et al.   PATHOBIOLOGY

A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus

(2015) Ghada Mohammad Anwar et al.   European Journal of Medical Genetics

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

(2015) Salih Coşkun et al.   GENE

Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population

(2015) SALIH COŞKU et al.   JOURNAL OF GENETICS

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

(2015) Ayse Kilic et al.   Pediatric Rheumatology

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey

(2015) Metin Kilinc et al.   RHEUMATOLOGY INTERNATIONAL

Predictors of AA amyloidosis in familial Mediterranean fever

(2015) Nikolay A. Mukhin et al.   RHEUMATOLOGY INTERNATIONAL

Familial Mediterranean fever in children from the Aegean region of Turkey:gene mutation frequencies and phenotype–genotype correlation

(2015) Ebru YILMAZ et al.   Turkish Journal Of Medical Sciences

Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever

(2015) Tufan Çankaya   Archives of Rheumatology

Clinical evaluation of R202Q alteration of MEFV genes in Turkish children

(2014) Elif Comak et al.   CLINICAL RHEUMATOLOGY

Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V)

(2014) Ramazan Gunesacar et al.   GENE

Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency ofMEFVgene mutations in Japanese and Mediterranean populations

(2014) Tomoko Sugiura et al.   Modern Rheumatology

Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey

(2014) Serdar Oztuzcu et al.   MOLECULAR BIOLOGY REPORTS

MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study

(2014) Samia Salah et al.   Pediatric Rheumatology

Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations

(2014) Dai Kishida et al.   ARTHRITIS RESEARCH & THERAPY

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

(2013) Seza Ozen et al.   ANNALS OF THE RHEUMATIC DISEASES

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

(2013) Kenji Nakagawa et al.   ANNALS OF THE RHEUMATIC DISEASES

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

(2013) C. Kosan et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Increased Levels of Macrophage Migration Inhibitory Factor in Patients with Familial Mediterranean Fever

(2013) Yusuf Savran et al.   International Journal of Medical Sciences

The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey

(2013) Derya Beyza Sayın Kocakap et al.   MOLECULAR BIOLOGY REPORTS

The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey

(2013) Aydın Ece et al.   RHEUMATOLOGY INTERNATIONAL

The presence ofMEFVgene mutations in patients with primary osteoarthritis who require surgery

(2013) Sedat Yilmaz et al.   KOREAN JOURNAL OF INTERNAL MEDICINE

Clinical impact ofMEFVmutations in children with periodic fever in a prevalent western European Caucasian population

(2012) Silvia Federici et al.   ANNALS OF THE RHEUMATIC DISEASES

Familial Mediterranean fever: New phenotypes

(2012) Alessandra Soriano et al.   AUTOIMMUNITY REVIEWS

Incomplete response to colchicine in M694V homozygote FMF patients

(2012) Merav Lidar et al.   AUTOIMMUNITY REVIEWS

Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients

(2012) Nevin Karakus et al.   CLINICA CHIMICA ACTA

Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients

(2012) Serbulent Yigit et al.   GENE

Familial Mediterranean Fever in Japan

(2012) Kiyoshi Migita et al.   MEDICINE

Clinical and biochemical landmarks in systemic autoinflammatory diseases

(2011) Luca Cantarini et al.   ANNALS OF MEDICINE

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

(2011) Can Ozturk et al.   CLINICAL RHEUMATOLOGY

Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice

(2011) Jae Jin Chae et al.   IMMUNITY

Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population

(2011) D. Ait-Idir et al.   RHEUMATOLOGY

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

(2010) Oztürk Ozdemir et al.   MOLECULAR BIOLOGY REPORTS

Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation

(2010) Rami A. Jarjour et al.   MOLECULAR BIOLOGY REPORTS

Common Familial Mediterranean Fever gene mutations in a Turkish cohort

(2010) Munis Dundar et al.   MOLECULAR BIOLOGY REPORTS

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

(2009) J. G. Ryan et al.   ANNALS OF THE RHEUMATIC DISEASES

Changing concepts in familial mediterranean fever: Is it possible to have an autosomal-recessive disease with only one mutation?

(2009) Seza Özen   ARTHRITIS AND RHEUMATISM

Familial mediterranean fever with a singleMEFVmutation: Where is the second hit?

(2009) Matthew G. Booty et al.   ARTHRITIS AND RHEUMATISM

Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy

(2009) Jae J. Chae et al.   BRITISH JOURNAL OF HAEMATOLOGY

Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population

(2009) Vasiliki Gkretsi et al.   Genetic Testing and Molecular Biomarkers

The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration

(2009) Alessandro Liberati et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

The Crystal Structure of Human Pyrin B30.2 Domain: Implications for Mutations Associated with Familial Mediterranean Fever

(2009) Christopher Weinert et al.   JOURNAL OF MOLECULAR BIOLOGY

Unresponsiveness to Colchicine Therapy in Patients with Familial Mediterranean Fever Homozygous for the M694V Mutation

(2009) O. SOYLEMEZOGLU et al.   JOURNAL OF RHEUMATOLOGY

Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype–phenotype correlation

(2009) Rami A. Jarjour   MOLECULAR BIOLOGY REPORTS

MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey

(2009) Haluk Akin et al.   MOLECULAR BIOLOGY REPORTS

Genetic Variation in the Familial Mediterranean Fever Gene (MEFV) and Risk for Crohn's Disease and Ulcerative Colitis

(2009) Alexandra-Chloé Villani et al.   PLoS One

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

(2009) I. Kone-Paut et al.   RHEUMATOLOGY

The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center

(2009) Ayfer Inal et al.   RHEUMATOLOGY INTERNATIONAL

Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia

(2009) Kemal Üreten et al.   RHEUMATOLOGY INTERNATIONAL

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Genotype–phenotype correlation in children with familial Mediterranean fever in a Turkish population

(2008) Ruhan Duşunsel et al.   PEDIATRICS INTERNATIONAL