Showing results 8 to 23 of 23
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| Issue Date | Title | Author(s) |
| 2020 | Genetic heterogeneity of KLF1, a master regulator of erythropoiesis, revealed an autosomal recessive Ψβ-thalassemia and a very strong promoter in vivo | Grech, Laura; Borg, Joseph J.; Galdies, Ruth; Attard, Carmen; Scerri, Christian A.; Philipsen, Sjaak; Felice, Alexander E. |
| 2010 | Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin | Borg, Joseph J.; Papadopoulos, Petros; Georgitsi, Marianthi; Gutierrez, Laura; Grech, Godfrey; Fanis, Pavlos; Phylactides, Marios; Verkerk, Annemieke J.M.H.; van der Spek, Peter J.; Scerri, Christian A.; Cassar, Wilhelmina; Galdies, Ruth; van IJcken, Wilfred; Ozgur, Zeliha; Gillemans, Nynke; Hou, Jun; Bugeja, Marisa; Grosveld, Frank G.; von Lindern, Marieke; Felice, Alex; Patrinos, George P.; Philipsen, Sjaak |
| 2018 | Hb F Malta 1 : a biomarker for the developmental control of globin gene switching | Camilleri, Alexander; Galdies, Ruth; Cassar, Wilhelmina; Grech, Laura; Ebejer, Jean Paul; Borg, Joseph J.; Scerri, Christian A.; Felice, Alex E. |
| 2006 | Hb F Malta I in association with Hb F Sardinia (AyT) and Hb Valletta in heterozygotes : quantification of the six globins suggests developmental control of the XMN-I site and interplay with the (AT)xTy sequence in connection with globin gene switching | Felice, Alex E.; Borg, Joseph J.; Cassar, Wilma; Galdies, Ruth; Pizzuto, Monica; Caruana, Maryrose; Scerri, Christian A. |
| 2010 | Hb Valletta [β87 (F3) Thr→ Pro] and Hb Marseille/Long Island [β2 (NA2) His→ Pro;(–1) Met-(+ 1) Val-(+ 2) Pro-Leu], in a unique compound heterozygote with a normal hemoglobin phenotype | Galdies, Ruth; Cassar, Wilhelmina; Pizzuto, Monica; Scerri, Christian A.; Felice, Nicholas; Cassar, Olivianne A.; Buttigieg, George; Felice, Alex |
| 2015 | Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy | Gerada, Jurgen; Saliba, Christian; Galdies, Ruth; Cassar, Wilhelmina; Mercieca, Victor; DeGaetano, James; Gerada, Eleanor; Sebire, Neil; Hill, Susan; LaFerla, Godfrey; Vassallo, Mario; Scerri, Christian; Grech, Godfrey; Attard, Thomas M. |
| 2014 | Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy | Gerada, Jurgen; Saliba, Christian; Galdies, Ruth; Cassar, Wilhelmina; Mercieca, Victor; DeGaetano, James; Gerada, Eleanor; Sebire, Neil J.; Hill, Susan; Vassallo, Mario; Scerri, Christian A.; Grech, Godfrey; Attard, Thomas |
| 2018 | Novel beta globin gene cluster rearrangements and deletions in the Maltese islands | Camilleri, Alexander; Galdies, Ruth; Cassar, Wilhelmina; Grech, Laura; Borg, Joseph J.; Scerri, Christian A.; Felice, Alex E. |
| 2012 | Optimization of an imaging cytometry protocol to observe the cellular distribution of haemoglobin F in F-erythrocytes | Scerri, Jeanesse; Felice, Alex; Cassar, Wilhelmina; Scerri, Christian A.; Grech, Godfrey; Galdies, Ruth; Borg, Joseph J.; Saliba, Christian |
| 2015-03 | Rare disease research and the Malta biobank | Vella, Joanna; Borg, Joseph J.; Grech, Laura; Galdies, Ruth; Scerri, Jeanesse; Cassar, Wilhelmina; Scerri, Christian A.; Grech, Godfrey; Soler, Doriette; Said, Edith; Borg, Isabella; Vella, Norbert; Camilleri-Podesta, Marie Therese; Ellul, Bridget; Abela, Mark; Grima, David; Zammit, Esther; Pace, Nikolai Paul; Felice, Alex; Said Conti, Valerie |
| 2007 | A review of cis-trans interplay between DNA sequences 5′ to the Gγ-and β-globin genes among Hb F-Malta-I heterozygotes/homozygotes and β-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials | Felice, Alex; Borg, Joseph J.; Pizzuto, Monica; Cassar, Wilhelmina; Galdies, Ruth; Bezzina Wettinger, Stephanie; Pulis, Svetlana; Hunter, Gary J.; Caruana, Mary Rose; Farrugia, Mario; Scerri, Christian A. |
| 2018 | The role of FLVCR1 isoforms on inter-erythrocytic distribution of human foetal haemoglobin | Grech, Laura; Scerri, Jeanesse; Mizzi, Clint; Galdies, Ruth; Scerri, Christian A.; Ijcken, Wilfred van; Özgür, Zeliha; Gillemans, Nynke; Borg, Joseph J.; Philipsen, Sjaak; Felice, Alex E. |
| 2009-11 | The significance of quantitative HB epidemiology in public health genomics and genetic models of complex disease | Felice, Alex; Galdies, Ruth; Cassar, Wilhelmina; Pizzuto, Monica; Borg, Joseph J.; Bugeja, Marisa; Caruana, Mary Rose; Farrugia, Mario; Scerri, Christian A. |
| 2019 | A twenty-five year prospective clinical review and family studies revealed new globin gene regulators for Hb F induction | Felice, Alex E.; Borg, Joseph J.; Grech, Laura; Scerri, Christian A.; Galdies, Ruth; Philipsen, Sjaak |
| 1998 | Two new missense mutations (P134T and A244V) in the coagulation factor VII gene | Alshinawi, Connie; Scerri, Christian A.; Galdies, Ruth; Aquilina, Alex; Felice, Alex |
| 1993 | The β+ IVS, I‐NT no. 6 (T→ C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta | Scerri, Christian A.; Abela, W.; Galdies, Ruth; Pizzuto, Monica; Grech, Joseph L.; Felice, Alex |
