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Association of NOD2 with Crohn's disease in a homogenous Irish population.
Bairead E, Harmon DL, Curtis AM, Kelly Y, O'Leary C, Gardner M, Leahy DT, Vaughan P, Keegan D, O'Morain C, O'Donoghue D, Shanahan F, Parfrey NA, Quane KA. Bairead E, et al. Among authors: quane ka. Eur J Hum Genet. 2003 Mar;11(3):237-44. doi: 10.1038/sj.ejhg.5200954. Eur J Hum Genet. 2003. PMID: 12673278
Linkage of familial Hibernian fever to chromosome 12p13.
McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell RJ, Amos CI, Hitman GA. McDermott MF, et al. Among authors: quane ka. Am J Hum Genet. 1998 Jun;62(6):1446-51. doi: 10.1086/301886. Am J Hum Genet. 1998. PMID: 9585614 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: quane ka. Cell. 1999 Apr 2;97(1):133-44. doi: 10.1016/s0092-8674(00)80721-7. Cell. 1999. PMID: 10199409 Free article.
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV. Manning BM, et al. Among authors: quane ka. Am J Hum Genet. 1998 Mar;62(3):599-609. doi: 10.1086/301748. Am J Hum Genet. 1998. PMID: 9497245 Free PMC article.
21 results