Last Posted: Oct 14, 2021
- The analysis of genotype-phenotype correlation in familial Mediterranean fever.
Öztürk Kübra et al. Pediatrics international : official journal of the Japan Pediatric Society 2021
- Does Age at Onset Affect the Clinical Presentation of Familial Mediterranean Fever in Children?
Gezgin Yildirim Deniz, et al. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 11
- The musculoskeletal system manifestations in children with familial Mediterranean fever.
Demir Ferhat, et al. Northern clinics of Istanbul 2020 0 (5) 438-442
- Erysipelas-like erythema in children with familial Mediterranean fever.
Gezgin Yildirim Deniz et al. Clinical and experimental rheumatology 2020 Oct
- A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta Burhan, et al. Molecular biology reports 2020 1
- Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?
Procopio V, et al. Gene 2018 1 279-286
- Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.
Endo Yushiro, et al. Arthritis research & therapy 2018 11 (1) 257
- Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans.
Manna Raffaele et al. Mediterranean journal of hematology and infectious diseases 2019 11(1) e2019027
- CLINGEN Actionability Report for Familial Mediterranean Fever (AR) - MEFV
ClinGen Actionability Working Group
- Comparison of early versus late onset familial Mediterranean fever.
Yasar Bilge Nazife Sule, et al. International journal of rheumatic diseases 2018 1
- Analysis of Serum Cytokines and Single-Nucleotide Polymorphisms of SOD1, SOD2, and CAT in Erysipelas Patients.
Emene Charles C, et al. Journal of immunology research 2017 0 2157247
- Fas and Fas ligand gene polymorphisms in Turkish patients with Familial Mediterranean Fever.
Ozel Emine Gulce, et al. Gene 2017 4
- Familial Mediterranean fever in children from the Aegean region of Turkey: gene mutation frequencies and phenotype-genotype correlation.
Yilmaz Ebru, et al. Turkish journal of medical sciences 2015 0 (6) 1198-206
- Familial Mediterranean Fever in Iran: A Report from FMF Registration Center.
Salehzadeh Farhad, et al. International journal of rheumatology 2015 0 912137
- FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.
Bonyadi Morteza Jabbarpour, et al. Iranian journal of basic medical sciences 2015 7 (7) 659-63
- The relationship between red cell distribution width and homozygous M694V mutation in familial Mediterranean fever patients.
Uslu Ali Ugur, et al. Annals of Saudi medicine 0 0 (2) 151-6
- Familial Mediterranean fever without MEFV mutations: a case-control study.
Ben-Zvi Ilan, et al. Orphanet journal of rare diseases 2015 0 34
- Risk factors for subclinical inflammation in children with Familial Mediterranean fever.
Bayram Meral Torun, et al. Rheumatology international 2015 8 (8) 1393-8
- Predictors of AA amyloidosis in familial Mediterranean fever.
Mukhin Nikolay A, et al. Rheumatology international 2015 7 (7) 1257-61
- Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.
Comak Elif, et al. Clinical rheumatology 2014 12 (12) 1765-71
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.