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Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE. Farrugia R, et al. Among authors: felice ae. Mol Genet Metab. 2007 Mar;90(3):277-83. doi: 10.1016/j.ymgme.2006.10.013. Epub 2006 Dec 22. Mol Genet Metab. 2007. PMID: 17188538
Genet. 69 (2001) 269-277; B.R.G. Neville, R. Parascandalo, S. Attard Montalto, R. Farrugia, A.E. Felice, A congenital dopa responsive motor disorder: a Maltese variant due to sepiapterin reductase deficiency, Brain 128 (Pt10) (2005) 2291-2296.] has als …
Genet. 69 (2001) 269-277; B.R.G. Neville, R. Parascandalo, S. Attard Montalto, R. Farrugia, A.E. Felice, A congenital d …
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. Sci Rep. 2022 Jan 10;12(1):336. doi: 10.1038/s41598-021-04126-6. Sci Rep. 2022. PMID: 35013432 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.
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
298 results