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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 02, 2024
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Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever: A Single-Center Study.
Shuhei Yoshida et al. J Clin Med 2023 12(19)
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The Clinical Journey of a Patient with Familial Mediterranean Fever: One Gene, Three Diseases.
Pinar Ozge Avar-Aydin et al. Klinische Padiatrie 2023
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MEFV gene mutation spectrum in patients with familial mediterranean fever.
Hsin-Hui Wang et al. Pediatrics and neonatology 2023
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Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.
Pinchevski-Kadir Shiran et al. Pediatric rheumatology online journal 2023 21(1) 4
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Colchicine treatment can be discontinued in a selected group of pediatric FMF patients.
Cohen Keren et al. Pediatric rheumatology online journal 2023 21(1) 2
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Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Delplanque Marion et al. Rheumatology (Oxford, England) 2022
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The effect of a 18 bp deletion/insertion variant of VEGF gene on the FMF development.
Sezer Ozlem et al. Nucleosides, nucleotides & nucleic acids 2022 1-12
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Tocilizumab for the Treatment of Familial Mediterranean Fever-A Randomized, Double-Blind, Placebo-Controlled Phase II Study.
Henes Joerg C et al. Journal of clinical medicine 2022 11(18)
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Systematic Review of Safety and Efficacy of IL-1-Targeted Biologics in Treating Immune-Mediated Disorders.
Arnold Dennis D et al. Frontiers in immunology 2022 13888392
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The Characteristics of Pediatric Patients with Familial Mediterranean Fever Treated with Anti-Interleukin-1 Treatment.
Avar Aydin Pinar Özge et al. Turkish archives of pediatrics 2022 57(4) 448-452
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Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
Batu Ezgi Deniz et al. Current rheumatology reports 2022
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Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.
Öztürk Kübra et al. Frontiers in pediatrics 2022 9805919
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Prediction of More Severe MEFV Gene Mutations in Childhood.
Günes-Yilmaz Seviye et al. Turkish archives of pediatrics 2022 56(6) 610-617
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Parental knowledge about familial Mediterranean fever: a cross-sectional study.
Yildirim Deniz Gezgin et al. The Turkish journal of pediatrics 2022 63(6) 1048-1055
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Comparison of diagnostic criteria for children with familial Mediterranean fever.
Akyol Onder Esra Nagehan et al. European journal of pediatrics 2022
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Efficacy and safety of canakinumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: A single-centre observational study.
Tomokawa Takuya et al. Modern rheumatology 2021
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The remarkable characteristics of the children with colchicine-resistant familial Mediterranean fever in Turkey.
Sahin Nihal et al. Modern rheumatology 2021
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Clinical course of COVID-19 infection in paediatric familial Mediterranean fever patients.
Kaya Akca Ummusen et al. Modern rheumatology 2021
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The Assessment of Selected miRNA Profile in Familial Mediterranean Fever.
Kahraman Cigdem Yuce et al. BioMed research international 2021 20216495700
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The analysis of genotype-phenotype correlation in familial Mediterranean fever.
Öztürk Kübra et al. Pediatrics international : official journal of the Japan Pediatric Society 2021
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Non-adherence to colchicine treatment is a common misevaluation in familial Mediterranean fever.
Tekgöz Emre et al. Turkish journal of medical sciences 2021
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COVID-19 outcomes in patients with familial Mediterranean fever: a retrospective cohort study.
Güven Serdar Can et al. Rheumatology international 2021
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Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever.
Tirosh Irit et al. Rheumatology (Oxford, England) 2021 Feb
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Chronic non-bacterial osteomyelitis: another disease associated with MEFV gene mutations.
Avar-Aydin Pinar Ozge et al. Clinical and experimental rheumatology 2020 Nov
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Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Sözeri Betül et al. Clinical rheumatology 2020 Nov
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Clinical course of COVID-19 in a cohort of 342 familial Mediterranean fever patients with a long-term treatment by colchicine in a French endemic area.
Bourguiba Rim et al. Annals of the rheumatic diseases 2020 Nov
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Erysipelas-like erythema in children with familial Mediterranean fever.
Gezgin Yildirim Deniz et al. Clinical and experimental rheumatology 2020 Oct
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Familial Mediterranean Fever: Clinical State Of The Art.
Egeli Bugra Han et al. QJM : monthly journal of the Association of Physicians 2020 Oct
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Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study.
Koga Tomohiro et al. Clinical and experimental rheumatology 2020 Sep
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Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor.
Magnotti Flora et al. Annals of the rheumatic diseases 2020 Oct
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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