Lee-Kirsch MA - Search Results

1

Absence of Type I Interferon Autoantibodies or Significant Interferon Signature Alterations in Adults With Post-COVID-19 Syndrome.

Achleitner M, Mair NK, Dänhardt J, Kardashi R, Puhan MA, Abela IA, Toepfner N, de With K, Kanczkowski W, Jarzebska N, Rodionov RN, Wolf C, Lee-Kirsch MA, Steenblock C, Hale BG, Bornstein SR. Achleitner M, et al. Among authors: lee kirsch ma. Open Forum Infect Dis. 2023 Dec 19;11(1):ofad641. doi: 10.1093/ofid/ofad641. eCollection 2024 Jan. Open Forum Infect Dis. 2023. PMID: 38179103 Free PMC article.

2

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA. Ramantani G, et al. J Child Neurol. 2011 Nov;26(11):1425-8. doi: 10.1177/0883073811408310. Epub 2011 Jun 13. J Child Neurol. 2011. PMID: 21670392

3

Epilepsy in Aicardi-Goutières syndrome.

Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA. Ramantani G, et al. Eur J Paediatr Neurol. 2014 Jan;18(1):30-7. doi: 10.1016/j.ejpn.2013.07.005. Epub 2013 Sep 5. Eur J Paediatr Neurol. 2014. PMID: 24011626

4

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.

5

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA. Tüngler V, et al. Br J Dermatol. 2012 Jul;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x. Br J Dermatol. 2012. PMID: 22356656 No abstract available.

6

Three-generational alkaptonuria in a non-consanguineous family.

Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA. Oexle K, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S425-30. doi: 10.1007/s10545-008-0994-7. Epub 2008 Dec 22. J Inherit Metab Dis. 2008. PMID: 19096913

7

Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.

Liska F, Gosele C, Rivkin E, Tres L, Cardoso MC, Domaing P, Krejcí E, Snajdr P, Lee-Kirsch MA, de Rooij DG, Kren V, Krenová D, Kierszenbaum AL, Hubner N. Liska F, et al. Biol Reprod. 2009 Dec;81(6):1196-205. doi: 10.1095/biolreprod.109.078980. Epub 2009 Aug 26. Biol Reprod. 2009. PMID: 19710508 Free PMC article.

8

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

Yan N, Regalado-Magdos AD, Stiggelbout B, Lee-Kirsch MA, Lieberman J. Yan N, et al. Nat Immunol. 2010 Nov;11(11):1005-13. doi: 10.1038/ni.1941. Epub 2010 Sep 26. Nat Immunol. 2010. PMID: 20871604 Free PMC article.

9

A common variant on chromosome 11q13 is associated with atopic dermatitis.

Esparza-Gordillo J, Weidinger S, Fölster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illig T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA, Ruether A. Esparza-Gordillo J, et al. Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6. Nat Genet. 2009. PMID: 19349984

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

103 results

Search Page