| 1 | MEFV, TRIM21
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| TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity.
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| Kimura T, Jain A, Choi SW, Mandell MA, Schroder K, Johansen T, Deretic V.
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| J Cell Biol 210(6):973-89.
2015
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| 2 | FMF, MEFV
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| Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.
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| Moradian MM, Sarkisian T, Ajrapetyan H, Avanesian N.
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| J Hum Genet 55(6):389-93. Epub 2010 May 20.PMID: 20485448 2010
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| 3 | FMF, MEFV
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| Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
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| Feng J, Zhang Z, Li W, Shen X, Song W, Yang C, Chang F, Longmate J, Marek C, St Amand RP, Krontiris TG, Shively JE, Sommer SS.
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| PLoS One 4(12):e8480.PMID: 20041150 2009
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| 4 | FMF, MEFV
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| MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
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| Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H.
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| Nephrol Dial Transplant ephrol Dial Transplant. 2009 Nov 23. [Epub ahead of print]PMID: 19934083 2009
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| 5 | FMF, MEFV
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| Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.
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| Grandemange S, Soler S, Touitou I.
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| Hum Mol Genet 18(24):4746-55. Epub 2009 Sep 15.PMID: 19755381 2009
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| 6 | FMF, MEFV
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| MEFV mutations in systemic onset juvenile idiopathic arthritis.
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| Ayaz NA, Ozen S, Bilginer Y, Ergüven M, Taşkiran E, Yilmaz E, Beşbaş N, Topaloğlu R, Bakkaloğlu A.
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| Rheumatology (Oxford) 48(1):23-5. Epub 2008 Nov 4.PMID: 18984609 2009
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| 7 | FMF, MEFV, MID1, MID2, PML, TRIM10, TRIM11, TRIM13, TRIM15, TRIM17, TRIM2, TRIM21, TRIM22, TRIM23, TRIM24, TRIM25, TRIM26, TRIM27, TRIM28, TRIM3, TRIM31, TRIM32, TRIM33, TRIM34, TRIM35, TRIM36, TRIM37, TRIM38, TRIM39, TRIM4, TRIM40, TRIM41, TRIM42, TRIM43, TRIM45, TRIM46, TRIM47, TRIM48, TRIM49, TRIM5, TRIM50, TRIM52, TRIM53, TRIM54, TRIM55, TRIM56, TRIM58, TRIM59, TRIM6, TRIM60, TRIM61, TRIM62, TRIM63, TRIM64, TRIM65, TRIM67, TRIM68, TRIM69, TRIM7, TRIM71, TRIM72, TRIM73, TRIM74, TRIM75, TRIM8, TRIM9, TRIML1
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| TRIM family proteins and their emerging roles in innate immunity.
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| Ozato K, Shin DM, Chang TH, Morse HC 3rd.
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| Nat Rev Immunol 8(11):849-60. Review. 2008
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| 8 | FMF, MEFV, SIVA1
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| Pyrin, product of the MEFV locus, interacts with the proapoptotic protein, Siva.
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| Balci-Peynircioglu B, Waite AL, Hu C, Richards N, Staubach-Grosse A, Yilmaz E, Gumucio DL.
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| J Cell Physiol 216(3):595-602.PMID: 18330885 2008
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| 9 | FMF, MEFV, TRIM21, TRIM5
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| Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function.
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| James LC, Keeble AH, Khan Z, Rhodes DA, Trowsdale J.
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| Proc Natl Acad Sci U S A 104(15):6200-5. Epub 2007 Mar 30. 2007
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| 10 | FMF, MEFV, TNFRSF1A, TRAPS
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| Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations.
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| Granel B, Serratrice J, Dodé C, Grateau G, Disdier P, Weiller PJ.
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| Clin Exp Rheumatol 25(4 Suppl 45):S93-5.PMID: 17949559 2007
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| 11 | MEFV, TRIM21
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| Structure of the PRYSPRY-domain: implications for autoinflammatory diseases.
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| Grutter C, Briand C, Capitani G, Mittl PR, Papin S, Tschopp J, Grutter MG.
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| FEBS Lett 580(1):99-106. Epub 2005 Dec 9. 2006
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| 12 | MEFV
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| MEFV gene is a probable susceptibility gene for Behcet's disease.
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| Imirzalioglu N, Dursun A, Tastan B, Soysal Y, Yakicier MC.
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| Scand J Rheumatol 34(1):56-8. 2005
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| 13 | FMF, MEFV
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| A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
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| Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yague J.
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| Am J Med Genet 124A(1):67-73. 2004
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| 14 | FMF, MEFV, NLRC5, NLRP11, NLRP3, PYCARD
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| Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product.
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| Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G.
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| Biochem Biophys Res Commun 302(3):575-80. 2003
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| 15 | FMF, MEFV, PSTPIP1
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| Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
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| Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL.
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| Proc Natl Acad Sci U S A 100(23):13501-6. Epub 2003 Oct 31. 2003
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| 16 | FMF, MEFV
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| Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.
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| Timmann C, Mersinli O, Kuhne K, Sievertsen J, Griebel MA, Dieckerhoff J, Horstmann RD.
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| Blood Cells Mol Dis 31(3):320-3. 2003
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| 17 | FMF, MEFV
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| Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
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| Mansour I, Delague V, Cazeneuve C, Dode C, Chouery E, Pecheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Megarbane A, Naman R.
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| Eur J Hum Genet 9(1):51-5. 2001
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| 18 | MEFV
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| A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD).
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| Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y, Pras E, Zaks N, Padeh S, Kastner DL, Pras M.
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| Eur J Hum Genet 9(3):191-196. 2001
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| 19 | FMF, MEFV
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| Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin.
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| Tidow N, Chen X, Muller C, Kawano S, Gombart AF, Fischel-Ghodsian N, Koeffler HP.
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| Blood 95(4):1451-5. 2000
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| 20 | MEFV
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| Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.
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| Dode C, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G.
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| Am J Med Genet 92(4):241-6. 2000
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| 21 | MEFV
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| Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.
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| Press J, Shinar Y, Langevitz P, Livneh A, Pras M, Buskila D.
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| Am J Med Genet 92(4):247-9. 2000
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| 22 | FMF, MEFV
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| MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
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| Tekin M, Yalcinkaya F, Cakar N, Akar N, Misirlioglu M, Tastan H, Tumer N.
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| Clin Genet 57(6):430-4. 2000
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| 23 | FMF, MEFV
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| The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.
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| Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Horwitz ME, Mansfield E, Holland SM, O'Shea JJ, Rosenberg HF, Malech HL, Kastner DL.
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| Blood 95(10):3223-31. 2000
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| 24 | FMF, MEFV
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| Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.
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| Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, Amselem S.
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| Hum Mol Genet 9(20):3001-9. 2000
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| 25 | FMF, MEFV, SAA1
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| Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.
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| Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Genevieve D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S.
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| Am J Hum Genet 67(5):1136-43. 2000
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| 26 | MEFV
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| Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population.
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| Aksentijevich I, et al.
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| Am J Hum Genet 64(4):949-962. 1999
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| 27 | FMF, MEFV
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| Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
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| Shohat M, et al.
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| Eur J Hum Genet 7(3):287-92. 1999
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| 28 | FMF, MEFV
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| MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype-Genetic and Therapeutic Implications.
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| Cazeneuve C, et al.
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| Am J Hum Genet 65(1):88-97. 1999
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| 29 | MEFV
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| Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics.
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| Tamir N, Langevitz P, Zemer D, Pras E, Shinar Y, Padeh S, Zaks N, Pras M, Livneh A.
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| Am J Med Genet 87(1):30-5 1999
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| 30 | FMF, MEFV
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| Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
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| Dewalle M, et al.
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| Eur J Hum Genet 6 : 95-97. 1998
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| 31 | FMF, MEFV
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| Assessment of pyrin gene mutations in Turks with familial mediterranean fever (FMF).
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| Chen X, et al.
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| Hum Mutat 11 : 456-460. 1998
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| 32 | MEFV, MMP25, OR1F1, OR1F2P, ZNF200, ZNF205, ZSCAN10
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| A transcriptional map of the FMF region.
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| Bernot A, et al.
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| Genomics 50 : 147-160. 1998
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| 33 | FMF, MEFV
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| Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
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| Bernot A, et al.
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| Hum Mol Genet 7 : 1317-1325. 1998
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| 34 | FMF, MEFV
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| Amyloidosis in familial Mediterranean fever is associated with a specific ancestral haplotype in the MEFV locus.
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| Shohat M, et al.
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| Mol Genet Metab 65 : 197-202. 1998
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| 35 | FMF, FMF, IL32, MEFV, OR1F2P, OR2C1, TRKPR@, ZNF174
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| Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3.
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| Centola M, et al.
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| Genome Res 8(11):1172-91. 1998
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| 36 | FMF, MEFV
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| Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial mediterranean fever locus (MEFV) on chromosome 16p13.3.
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| Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Orsborn A, Pras E, Balow JE Jr, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI, Doggett NA, et al.
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| Genomics 42(1):83-95. 1997
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| 37 | FMF, MEFV
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| Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.
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| Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M.
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| J Med Genet 34(7):573-8. 1997
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| 38 | FMF, MEFV, OR1F1
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| A candidate gene for familial Mediterranean fever. The French FMF Consortium.
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| The French FMF Consortium.
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| Nat Genet 17(1):25-31. 1997
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| 39 | FMF, MEFV
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| Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
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| The International FMF Consortium.
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| Cell 90(4):797-807. 1997
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| 40 | MEFV
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| A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.
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| Balow JE Jr, Shelton DA, Orsborn A, Mangelsdorf M, Aksentijevich I, Blake T, Sood R, Gardner D, Liu R, Pras E, Levy EN, Centola M, Deng Z, Zaks N, Wood G, Chen X, Richards N, Shohat M, Livneh A, Pras M, Doggett NA, Collins FS, Liu PP, Rotter JI, Kastner DL, et al.
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| Genomics 44(3):280-91. 1997
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| 41 | MEFV
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| Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.
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| Levy EN, et al.
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| Am J Hum Genet 58 : 523-534. 1996
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| 42 | FMF, MEFV
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| Localization of the familial mediterranean fever gene (FMF) to a 250-kb interval in Non-Ashkenazi Jewish founder haplotypes.
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| The French FMF Consortium.
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| Am J Hum Genet 59 : 603-612. 1996
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| 43 | FMF, MEFV
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| Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever.
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| Drenth JPH, et al.
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| Hum Genet 94 : 616-620. 1994
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| 44 | FMF, MEFV
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| Refined mapping of the gene causing familial mediterranean fever, by linkage and homozygosity studies.
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| Aksentijevich I, et al.
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| Am J Hum Genet 53 : 451-461. 1993
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| 45 | FMF, MEFV
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| Regional mapping of the gene for familial mediterranean fever on human chromosome 16p13.
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| Fischel-Ghodsian N, et al.
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| Am J Med Genet 46 : 689-693. 1993
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| 46 | FMF, MEFV
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| Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families : second locus or type I error?
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| Aksentijevich I, et al.
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| Hum Genet 91 : 527-534. 1993
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| 47 | FMF, MEFV
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| Familial Mediterranean fever (FMF) in Moroccan Jews : demonstration of a founder effect by extended haplotype analysis.
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| Aksentijevich I, et al.
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| Am J Hum Genet 53 : 644-651. 1993
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| 48 | FMF, MEFV
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| Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.
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| Pras E, et al.
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| N Engl J Med 326 : 1509-1513. 1992
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| 49 | MEFV
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| Linkage disequilibrium in the familial Mediterranean fever candidate region.
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| Aksentijevich I, et al.
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| Am J Hum Genet 51 : A181 1992
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| 50 | MEFV
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| The gene for familial mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity.
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| Shohat M, et al.
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| Am J Hum Genet 51 : 1349-1354. 1992
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| 51 | FMF, MEFV
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| Familial mediterranean fever : a 90 marker exclusion map and evidence for linkage to chromosome 17.
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| Kastner DL, et al.
|
| (HGM11) Cytogenet Cell Genet Abs. p276 1991
|