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795 related items for PubMed ID: 27457448

  • 1. Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.
    Topaloglu R, Batu ED, Yıldız Ç, Korkmaz E, Özen S, Beşbaş N, Özaltın F.
    Int J Rheum Dis; 2018 Oct; 21(10):1857-1862. PubMed ID: 27457448
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  • 2. Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.
    Aydın F, Çakar N, Özçakar ZB, Uncu N, Başaran Ö, Özdel S, Çelikel E, Elhan AH, Yalçınkaya F.
    J Clin Lab Anal; 2019 May; 33(4):e22852. PubMed ID: 30714637
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  • 3. E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?
    Orouk Awaad E, Khoury L, van Straalen JW, Miller-Barmak A, Gazitt T, Haddad-Haloun J, Brik R, Hamad Saied M.
    Eur J Pediatr; 2024 Oct; 183(10):4499-4506. PubMed ID: 39143349
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  • 4. MEFV mutation analysis of familial Mediterranean fever in Japan.
    Tomiyama N, Higashiuesato Y, Oda T, Baba E, Harada M, Azuma M, Yamashita T, Uehara K, Miyazato A, Hatta K, Ohya Y, Iseki K, Jinno Y, Takishita S.
    Clin Exp Rheumatol; 2008 Oct; 26(1):13-7. PubMed ID: 18328141
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  • 5. The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey.
    Ece A, Çakmak E, Uluca Ü, Kelekçi S, Yolbaş İ, Güneş A, Yel S, Tan İ, Şen V.
    Rheumatol Int; 2014 Feb; 34(2):207-12. PubMed ID: 24071932
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  • 6. MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever.
    Cekin N, Akyurek ME, Pinarbasi E, Ozen F.
    Gene; 2017 Aug 30; 626():9-13. PubMed ID: 28483595
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  • 7. Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.
    Kümpfel T, Gerdes LA, Wacker T, Blaschek A, Havla J, Krumbholz M, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P.
    Mult Scler; 2012 Sep 30; 18(9):1229-38. PubMed ID: 22337722
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  • 8. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
    Beheshtian M, Izadi N, Kriegshauser G, Kahrizi K, Mehr EP, Rostami M, Hosseini M, Azad M, Montajabiniat M, Kariminejad A, Nemeth S, Oberkanins C, Najmabadi H.
    J Genet; 2016 Sep 30; 95(3):667-74. PubMed ID: 27659338
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  • 10. Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever.
    Tirosh I, Yacobi Y, Vivante A, Barel O, Ben-Moshe Y, Erez Granat O, Spielman S, Semo Oz R, Shinar Y, Gerstein M.
    Rheumatology (Oxford); 2021 Nov 03; 60(11):5447-5451. PubMed ID: 33560333
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  • 11. MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever.
    Fujimoto K, Hidaka Y, Koga T, Kaieda S, Yamasaki S, Nakashima M, Hoshino T, Yamamoto K, Nishikomori R, Ida H.
    Mod Rheumatol; 2021 Nov 03; 31(6):1208-1214. PubMed ID: 33497256
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  • 16. A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
    Balta B, Erdogan M, Kiraz A, Akalın T, Baştug F, Bayram A.
    Mol Biol Rep; 2020 Mar 03; 47(3):1835-1843. PubMed ID: 31989427
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