Research map: Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants

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Papers in this map

  1. EULAR/PRINTO/PRES criteria for Henoch–Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria · Seza Özen · 2010 · 1459 citations · Cited by this paper
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  7. Familial Mediterranean Fever (FMF) in Turkey · Turkish FMF Study Group · 2005 · 765 citations · Cited by this paper
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  13. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production · Jae Jin Chae · 2006 · 561 citations · Cited by this paper
  14. Genetic and biological mechanisms of pediatric enuresis: integrating pathophysiology, GWAS associations, and multi-omics research · 2026 · Related
  15. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood · Fatoş Yalçınkaya · 2009 · 536 citations · Cited by this paper
  16. Intranasal dexmedetomidine vs. nitrous oxide for procedural sedation in juvenile idiopathic arthritis (INDEXJIA): a randomized crossover clinical trial · 2026 · Related
  17. Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice · Jae Jin Chae · 2011 · 472 citations · Cited by this paper
  18. Psychological and lifestyle predictors of paediatric sleep disturbances: a cross-sectional study · 2026 · Related
  19. Consensus classification criteria for paediatric Behçet's disease from a prospective observational cohort: PEDBD · Isabelle Koné‐Paut · 2015 · 256 citations · Cited by this paper
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  21. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) · Marielle E van Gijn · 2018 · 170 citations · Cited by this paper
  22. Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome · Yvan Jamilloux · 2017 · 95 citations · Cited by this paper
  23. Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort · Kübra Öztürk · 2022 · 71 citations · Cited by this paper
  24. EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update · Seza Özen · 2025 · 69 citations · Cited by this paper
  25. Comorbidities and phenotype–genotype correlation in children with familial Mediterranean fever · Nuray Aktay Ayaz · 2020 · 68 citations · Cited by this paper
  26. Familial Mediterranean fever is associated with a wide spectrum of inflammatory disorders: results from a large cohort study · Nuh Ataş · 2019 · 67 citations · Cited by this paper
  27. Evaluation of co-existing diseases in children with familial Mediterranean fever · Mehmet Yıldız · 2019 · 58 citations · Cited by this paper
  28. Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever · Jae Jin Chae · 2000 · 51 citations · Cited by this paper
  29. The effect of colchicine on pyrin and pyrin interacting proteins · Ekim Z. Taşkıran · 2012 · 44 citations · Cited by this paper
  30. Familial Mediterranean fever-associated diseases in children · Zeynep Birsin Özçakar · 2016 · 41 citations · Cited by this paper
  31. Pediatric onset Behçet disease · Seza Özen · 2010 · 26 citations · Cited by this paper
  32. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium · Munis Dündar · 2022 · 17 citations · Cited by this paper
  33. Clinical experiences in Turkish paediatric patients with chronic recurrent multifocal osteomyelitis · Betül Sözeri · 2019 · 14 citations · Cited by this paper
  34. Exploring factors for predicting colchicine responsiveness in children with PFAPA · Zeynep Özaslan · 2024 · 10 citations · Cited by this paper
  35. Long-term follow-up of paediatric MEFV carriers · Balahan Bora Makay · 2017 · 8 citations · Cited by this paper
  36. The journey of MEFV heterozygous children: with or without colchicine · Mustafa Çakan · 2024 · 5 citations · Cited by this paper
  37. Colchicine prophylaxis in pediatric PFAPA: a systematic review · Rosario Francesco Dipasquale · 2026 · 4 citations · Cited by this paper
  38. PFAPA SENDROMUNDA MEFV MUTASYONLARININ HASTALIK ÜZERİNE ETKİSİ · Semanur Özdel · 2020 · 2 citations · Cited by this paper
  39. Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study · Betül Sözeri · 2024 · 2 citations · Cited by this paper

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