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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: felice ae. 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: felice ae. 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.
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: felice ae. Pharmacogenomics. 2013 Apr;14(5):469-83. doi: 10.2217/pgs.13.31. Pharmacogenomics. 2013. PMID: 23556445
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
Lederer CW, Basak AN, Aydinok Y, Christou S, El-Beshlawy A, Eleftheriou A, Fattoum S, Felice AE, Fibach E, Galanello R, Gambari R, Gavrila L, Giordano PC, Grosveld F, Hassapopoulou H, Hladka E, Kanavakis E, Locatelli F, Old J, Patrinos GP, Romeo G, Taher A, Traeger-Synodinos J, Vassiliou P, Villegas A, Voskaridou E, Wajcman H, Zafeiropoulos A, Kleanthous M. Lederer CW, et al. Among authors: felice ae. Hemoglobin. 2009;33(3):163-76. doi: 10.1080/03630260903089177. Hemoglobin. 2009. PMID: 19657830
Erythroid phenotypes associated with KLF1 mutations.
Borg J, Patrinos GP, Felice AE, Philipsen S. Borg J, et al. Among authors: felice ae. 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: felice ae. Pharmacogenomics. 2012 Oct;13(13):1487-500. doi: 10.2217/pgs.12.125. Pharmacogenomics. 2012. PMID: 23057549
Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.
Heshusius S, Grech L, Gillemans N, Brouwer RWW, den Dekker XT, van IJcken WFJ, Nota B, Felice AE, van Dijk TB, von Lindern M, Borg J, van den Akker E, Philipsen S. Heshusius S, et al. Among authors: felice ae. Sci Rep. 2022 Jan 10;12(1):336. doi: 10.1038/s41598-021-04126-6. Sci Rep. 2022. PMID: 35013432 Free PMC article.
A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials.
Felice AE, Borg J, Pizzuto M, Cassar W, Galdies R, Wettinger SB, Pulis S, Hunter GJ, Caruana MR, Farrugia M, Scerri CA. Felice AE, et al. Hemoglobin. 2007;31(2):279-88. doi: 10.1080/03630260701297261. Hemoglobin. 2007. PMID: 17486512
63 results