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Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.
Lee-Kirsch MA, Wolf C, Günther C. Lee-Kirsch MA, et al. Clin Exp Immunol. 2014 Jan;175(1):17-24. doi: 10.1111/cei.12160. Clin Exp Immunol. 2014. PMID: 23786362 Free PMC article. Review.
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
Lee-Kirsch MA, Gong M, Schulz H, Rüschendorf F, Stein A, Pfeiffer C, Ballarini A, Gahr M, Hubner N, Linné M. Lee-Kirsch MA, et al. Am J Hum Genet. 2006 Oct;79(4):731-7. doi: 10.1086/507848. Epub 2006 Aug 17. Am J Hum Genet. 2006. PMID: 16960810 Free PMC article.
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N. Lee-Kirsch MA, et al. J Mol Med (Berl). 2007 May;85(5):531-7. doi: 10.1007/s00109-007-0199-9. Epub 2007 Apr 18. J Mol Med (Berl). 2007. PMID: 17440703
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hübner N. Lee-Kirsch MA, et al. Nat Genet. 2007 Sep;39(9):1065-7. doi: 10.1038/ng2091. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660818
Chilblain lupus erythematosus--a review of literature.
Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M. Hedrich CM, et al. Clin Rheumatol. 2008 Aug;27(8):949-54. doi: 10.1007/s10067-008-0942-9. Epub 2008 Jun 10. Clin Rheumatol. 2008. PMID: 18543054 Review.
Chilblain lupus erythematosus-a review of literature.
Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M. Hedrich CM, et al. Clin Rheumatol. 2008 Oct;27(10):1341. doi: 10.1007/s10067-008-0975-0. Clin Rheumatol. 2008. PMID: 19125230 No abstract available.
Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene.
Ramantani G, Niggemann P, Hahn G, Näke A, Fahsold R, Lee-Kirsch MA. Ramantani G, et al. J Child Neurol. 2009 Mar;24(3):333-7. doi: 10.1177/0883073808323021. J Child Neurol. 2009. PMID: 19258292
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Ramantani G, et al. Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367. Arthritis Rheum. 2010. PMID: 20131292
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