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924 results

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A genetic score for the prediction of beta-thalassemia severity.
Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, Manca M, Sollaino MC, Manunza L, Mereu E, Marceddu G, Pissard S, Joly P, Thuret I, Origa R, Borg J, Forni GL, Piga A, Lai ME, Badens C, Moi P, Galanello R. Danjou F, et al. Among authors: borg j. Haematologica. 2015 Apr;100(4):452-7. doi: 10.3324/haematol.2014.113886. Epub 2014 Dec 5. Haematologica. 2015. PMID: 25480500 Free PMC article.
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: borg j. Nucleic Acids Res. 2014 Jan;42(Database issue):D1063-9. doi: 10.1093/nar/gkt911. Epub 2013 Oct 16. Nucleic Acids Res. 2014. PMID: 24137000 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: borg j. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 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: borg j. Pharmacogenomics. 2013 Apr;14(5):469-83. doi: 10.2217/pgs.13.31. Pharmacogenomics. 2013. PMID: 23556445
Novel therapies in β-thalassaemia.
Grech L, Borg K, Borg J. Grech L, et al. Among authors: borg j, borg k. Br J Clin Pharmacol. 2022 Jun;88(6):2509-2524. doi: 10.1111/bcp.14918. Epub 2021 Jun 4. Br J Clin Pharmacol. 2022. PMID: 34004015 Free article. Review.
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. Among authors: borg j. Hemoglobin. 2007;31(2):279-88. doi: 10.1080/03630260701297261. Hemoglobin. 2007. PMID: 17486512
Personalized pharmacogenomics profiling using whole-genome sequencing.
Mizzi C, Peters B, Mitropoulou C, Mitropoulos K, Katsila T, Agarwal MR, van Schaik RH, Drmanac R, Borg J, Patrinos GP. Mizzi C, et al. Among authors: borg j. Pharmacogenomics. 2014 Jun;15(9):1223-34. doi: 10.2217/pgs.14.102. Pharmacogenomics. 2014. PMID: 25141897
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. 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.
924 results