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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Borg J, et al. Among authors: georgitsi m. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. Nat Genet. 2010. PMID: 20676099 Free PMC article.
FINDbase: a worldwide database for genetic variation allele frequencies updated.
Georgitsi M, Viennas E, Antoniou DI, Gkantouna V, van Baal S, Petricoin EF 3rd, Poulas K, Tzimas G, Patrinos GP. Georgitsi M, et al. Nucleic Acids Res. 2011 Jan;39(Database issue):D926-32. doi: 10.1093/nar/gkq1236. Epub 2010 Nov 27. Nucleic Acids Res. 2011. PMID: 21113021 Free PMC article.
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: georgitsi m. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
Transcriptional regulation and pharmacogenomics.
Georgitsi M, Zukic B, Pavlovic S, Patrinos GP. Georgitsi M, et al. Pharmacogenomics. 2011 May;12(5):655-73. doi: 10.2217/pgs.10.215. Pharmacogenomics. 2011. PMID: 21619428 Review.
6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner.
Kotur N, Stankovic B, Kassela K, Georgitsi M, Vicha A, Leontari I, Dokmanovic L, Janic D, Krstovski N, Klaassen K, Radmilovic M, Stojiljkovic M, Nikcevic G, Simeonidis A, Sivolapenko G, Pavlovic S, Patrinos GP, Zukic B. Kotur N, et al. Among authors: georgitsi m. Pharmacogenomics. 2012 Feb;13(3):283-95. doi: 10.2217/pgs.11.153. Pharmacogenomics. 2012. PMID: 22304581
76 results