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High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.
Rivera NV, Ronninger M, Shchetynsky K, Franke A, Nöthen MM, Müller-Quernheim J, Schreiber S, Adrianto I, Karakaya B, van Moorsel CH, Navratilova Z, Kolek V, Rybicki BA, Iannuzzi MC, Petrek M, Grutters JC, Montgomery C, Fischer A, Eklund A, Padyukov L, Grunewald J. Rivera NV, et al. Am J Respir Crit Care Med. 2016 May 1;193(9):1008-22. doi: 10.1164/rccm.201507-1372OC. Am J Respir Crit Care Med. 2016. PMID: 26651848 Free PMC article.
Familial sarcoidosis is linked to the major histocompatibility complex region.
Schürmann M, Lympany PA, Reichel P, Müller-Myhsok B, Wurm K, Schlaak M, Müller-Quernheim J, du Bois RM, Schwinger E. Schürmann M, et al. Am J Respir Crit Care Med. 2000 Sep;162(3 Pt 1):861-4. doi: 10.1164/ajrccm.162.3.9901099. Am J Respir Crit Care Med. 2000. PMID: 10988096
CARD15 gene mutations in sarcoidosis.
Schürmann M, Valentonyte R, Hampe J, Müller-Quernheim J, Schwinger E, Schreiber S. Schürmann M, et al. Eur Respir J. 2003 Nov;22(5):748-54. doi: 10.1183/09031936.03.00040602. Eur Respir J. 2003. PMID: 14621080 Free article.
Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S. Valentonyte R, et al. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
Sarcoidosis--immunopathogenetic concepts.
Zissel G, Prasse A, Müller-Quernheim J. Zissel G, et al. Semin Respir Crit Care Med. 2007 Feb;28(1):3-14. doi: 10.1055/s-2007-970329. Semin Respir Crit Care Med. 2007. PMID: 17330188 Review.
Phenotyping sarcoidosis from a pulmonary perspective.
Prasse A, Katic C, Germann M, Buchwald A, Zissel G, Müller-Quernheim J. Prasse A, et al. Am J Respir Crit Care Med. 2008 Feb 1;177(3):330-6. doi: 10.1164/rccm.200705-742OC. Epub 2007 Nov 1. Am J Respir Crit Care Med. 2008. PMID: 17975200
Study of Toll-like receptor gene loci in sarcoidosis.
Schürmann M, Kwiatkowski R, Albrecht M, Fischer A, Hampe J, Müller-Quernheim J, Schwinger E, Schreiber S. Schürmann M, et al. Clin Exp Immunol. 2008 Jun;152(3):423-31. doi: 10.1111/j.1365-2249.2008.03621.x. Epub 2008 Apr 16. Clin Exp Immunol. 2008. PMID: 18422738 Free PMC article.
296 results