4.2 Article

Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: The effect of R202Q mutation

Related references

Note: Only part of the references are listed.
Article Pediatrics

Comparison of diagnostic criteria for children with familial Mediterranean fever

Esra Nagehan Akyol Onder et al.

Summary: This study compared the application of pediatric criteria, Tel-Hashomer criteria, and 2019 Eurofever/PRINTO classification criteria in the diagnosis of FMF. The study found that the sensitivity and specificity of pediatric criteria were comparable to Tel-Hashomer criteria, and the Eurofever/PRINTO classification criteria had high sensitivity and specificity.

EUROPEAN JOURNAL OF PEDIATRICS (2022)

Article Biochemistry & Molecular Biology

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

Abdullah Arpaci et al.

Summary: In this study, a retrospective analysis of 2639 clinically suspected FMF patients revealed a high frequency of MEFV gene mutations (78.7%), with R202Q being the most common mutation followed by E148Q, M694V, V726A, and M680I. A new mutation, S145G, was identified in one case, emphasizing the relationship between FMF clinical presentation and the homozygous form of R202Q previously considered as a polymorphism.

MOLECULAR BIOLOGY REPORTS (2021)

Article Biochemistry & Molecular Biology

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever

Burhan Balta et al.

MOLECULAR BIOLOGY REPORTS (2020)

Article Rheumatology

Coexisting Diseases in Patients with Familial Mediterranean Fever

Farhad Salehzadeh et al.

OPEN ACCESS RHEUMATOLOGY-RESEARCH AND REVIEWS (2020)

Review Pediatrics

FMF is not always fever: from clinical presentation to treat to target

Maria Cristina Maggio et al.

ITALIAN JOURNAL OF PEDIATRICS (2020)

Review Medicine, General & Internal

Familial Mediterranean Fever

Huri Ozdogan et al.

PRESSE MEDICALE (2019)

Article Biochemistry & Molecular Biology

Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever

Ergun Sonmezgoz et al.

BIOCHEMICAL GENETICS (2019)

Article Pediatrics

Endoscopic Findings of Children with Familial Mediterranean Fever

Elif Sag et al.

PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION (2018)

Review Microbiology

Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever

Gayane Manukyan et al.

FRONTIERS IN MICROBIOLOGY (2016)

Article Rheumatology

Familial Mediterranean fever in Syrian children: phenotype-genotype correlation

Rami A. Jarjour et al.

RHEUMATOLOGY INTERNATIONAL (2015)

Article Medicine, General & Internal

The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery

Sedat Yilmaz et al.

KOREAN JOURNAL OF INTERNAL MEDICINE (2013)

Review Immunology

Incomplete response to colchicine in M694V homozygote FMF patients

Merav Lidar et al.

AUTOIMMUNITY REVIEWS (2012)

Review Genetics & Heredity

Familial Mediterranean fever-A review

Mordechai Shohat et al.

GENETICS IN MEDICINE (2011)

Article Rheumatology

Familial Mediterranean Fever in Ashkenazi Jews: The Mild End of the Clinical Spectrum

Merav Lidar et al.

JOURNAL OF RHEUMATOLOGY (2010)

Article Genetics & Heredity

The Population Genetics of Familial Mediterranean Fever: A Meta-Analysis Study

V. P. Papadopoulos et al.

ANNALS OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Familial Mediterranean fever (FMF) in Lebanon and Jordan:: a population genetics study and report of three novel mutations

M Medlej-Hashim et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2005)

Review Rheumatology

The spectrum of familial Mediterranean fever gene mutations in Arabs: Report of a large series

HA Majeed et al.

SEMINARS IN ARTHRITIS AND RHEUMATISM (2005)

Review Rheumatology

Genotype/phenotype correlations in Arab patients with familial Mediterranean fever

HA Majeed et al.

SEMINARS IN ARTHRITIS AND RHEUMATISM (2002)