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Page 1
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: philipsen s. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
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: philipsen s. 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.
Erythroid phenotypes associated with KLF1 mutations.
Borg J, Patrinos GP, Felice AE, Philipsen S. Borg J, et al. Among authors: philipsen s. Haematologica. 2011 May;96(5):635-8. doi: 10.3324/haematol.2011.043265. Haematologica. 2011. PMID: 21531944 Free PMC article. No abstract available.
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients.
Borg J, Phylactides M, Bartsakoulia M, Tafrali C, Lederer C, Felice AE, Papachatzopoulou A, Kourakli A, Stavrou EF, Christou S, Hou J, Karkabouna S, Lappa-Manakou C, Ozgur Z, van Ijcken W, von Lindern M, Grosveld FG, Georgitsi M, Kleanthous M, Philipsen S, Patrinos GP. Borg J, et al. Among authors: philipsen s. Pharmacogenomics. 2012 Oct;13(13):1487-500. doi: 10.2217/pgs.12.125. Pharmacogenomics. 2012. PMID: 23057549
Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy.
Tafrali C, Paizi A, Borg J, Radmilovic M, Bartsakoulia M, Giannopoulou E, Giannakopoulou O, Stojiljkovic-Petrovic M, Zukic B, Poulas K, Stavrou EF, Lambropoulou P, Kourakli A, Felice AE, Papachatzopoulou A, Philipsen S, Pavlovic S, Georgitsi M, Patrinos GP. Tafrali C, et al. Among authors: philipsen s. Pharmacogenomics. 2013 Apr;14(5):469-83. doi: 10.2217/pgs.13.31. Pharmacogenomics. 2013. PMID: 23556445
ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus.
Breton A, Theodorou A, Aktuna S, Sonzogni L, Darling D, Chan L, Menzel S, van der Spek PJ, Swagemakers SM, Grosveld F, Philipsen S, Thein SL. Breton A, et al. Among authors: philipsen s. Br J Haematol. 2016 Nov;175(3):525-530. doi: 10.1111/bjh.14256. Epub 2016 Jul 19. Br J Haematol. 2016. PMID: 27434206 Free article.
145 results