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Page 1
Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3.
Centola M, Chen X, Sood R, Deng Z, Aksentijevich I, Blake T, Ricke DO, Chen X, Wood G, Zaks N, Richards N, Krizman D, Mansfield E, Apostolou S, Liu J, Shafran N, Vedula A, Hamon M, Cercek A, Kahan T, Gumucio D, Callen DF, Richards RI, Moyzis RK, Doggett NA, Collins FS, Liu PP, Fischel-Ghodsian N, Kastner DL. Centola M, et al. Among authors: mansfield e. Genome Res. 1998 Nov;8(11):1172-91. doi: 10.1101/gr.8.11.1172. Genome Res. 1998. PMID: 9847080 Free PMC article.
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL. Aksentijevich I, et al. Among authors: mansfield e. Am J Hum Genet. 2001 Aug;69(2):301-14. doi: 10.1086/321976. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443543 Free PMC article.
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL. McDermott MF, et al. Among authors: mansfield e. Cell. 1999 Apr 2;97(1):133-44. doi: 10.1016/s0092-8674(00)80721-7. Cell. 1999. PMID: 10199409 Free article.
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Zelante L, et al. Among authors: mansfield e. Hum Mol Genet. 1997 Sep;6(9):1605-9. doi: 10.1093/hmg/6.9.1605. Hum Mol Genet. 1997. PMID: 9285800
Parallel molecular genetic analysis.
McKenzie SE, Mansfield E, Rappaport E, Surrey S, Fortina P. McKenzie SE, et al. Among authors: mansfield e. Eur J Hum Genet. 1998 Sep-Oct;6(5):417-29. doi: 10.1038/sj.ejhg.5200218. Eur J Hum Genet. 1998. PMID: 9801865 Review.
255 results