Browsing by Author Galdies, Ruth

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Showing results 1 to 14 of 14
Issue DateTitleAuthor(s)
2009Candidate molecular regulators of developmental globin gene switchingBorg, Joseph; Phylactides, Marios; Grech, Godfrey; Scerri, Christian; Cassar, Wilhelmina; Galdies, Ruth; Lindern, Marieke von; Ijken, Wilfred van; Ho, Jun; Philipsen, Sjaak; Grosveld, Frank; Patrinos, George P.; Felice, Alex E.
1999Characterization and locus assignment of two α-globin variants present in the Maltese population : Hb St. Luke's [α95 (G2) Pro→ Arg] and Hb Setif [α94 (G1) Asp→ Tyr]Bezzina Wettinger, Stephanie; Galdies, Ruth; Scerri, Christian A.; Felice, Alex E.
2015-07The clinical bank of BBMRI.mtVella, Joanna; Grech, Laura; Scerri, Jeanesse; Scerri, Christian; Bezzina Wettinger, Stephanie; Camilleri, Graziella; Zammit, Esther; Grech, Godfrey; Soler, Doriette; Borg, Isabella; Camilleri Podesta, Marie Therese; Abela, Mark; Ebejer, Jean Paul; Borg, Joseph; Galdies, Ruth; Cassar, Wilhelmina; Camilleri, Alexander; Farrugia, Rosienne; Pace, Nikolai P.; Said Conti, Valerie; Vella, Norbert; Saliba, Christian; Said, Edith; Ellul, Bridget; Grima, David; Felice, Alex E.
2007Developmental effect of the XmnI site on Gγ-globin gene expression among newborn Hb F-Malta-I [Gγ117 (G19) His→ Arg, CAT→ CGT] heterozygotes and adult β+-thalassemia homozygotesPulis, Svetlana; Scerri, Christian A.; Schembri Wismayer, Pierre; Galdies, Ruth; Bezzina Wettinger, Stephanie; Felice, Alex E.
2011Does quantitative heterogeneity of human fetal hemoglobin (Hb F) reveal friends or foes of KLF1 in globin gene switching?Felice, Alex E.; Galdies, Ruth; Borg, Joseph; Grech, Godfrey; Cassar, Wilhelmina; Scerri, Christian A.; Patrinos, George P.; Philipsen, Sjaak
2010Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobinBorg, Joseph; 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 E.; Patrinos, George P.; Philipsen, Sjaak
2010Hb 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 phenotypeGaldies, Ruth; Cassar, Wilhelmina; Pizzuto, Monica; Scerri, Christian A.; Felice, Nicholas; Cassar, Olivianne A.; Buttigieg, George; Felice, Alex E.
2014Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathyGerada, Jurgen; Saliba, Christian; Galdies, Ruth; Cassar, Wilhelmina; Mercieca, Victor; DeGaetano, James; Gerada, Eleanor; Sebire, Neil J.; Hill, Susan; Vassallo, Mario; Scerri, Christian; Grech, Godfrey; Attard, Thomas
2012Optimization of an imaging cytometry protocol to observe the cellular distribution of haemoglobin F in F-erythrocytesScerri, Jeanesse; Felice, Alex E.; Cassar, Wilhelmina; Scerri, Christian; Grech, Godfrey; Galdies, Ruth; Borg, Joseph; Saliba, Christian
2015-03Rare disease research and the Malta biobankVella, Joanna; Borg, Joseph; Grech, Laura; Galdies, Ruth; Scerri, Jeanesse; Cassar, Wilhelmina; Scerri, Christian; Grech, Godfrey; Soler, Doriette; Said, Edith; Borg, Isabella; Vella, Norbert; Camilleri Podesta, Marie Therese; Ellul, Bridget; Abela, Mark; Grima, David; Zammit, Esther; Pace, Nikolai P.; Felice, Alex E.; Said Conti, Valerie
2007A 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 trialsFelice, Alex E.; Borg, Joseph; Pizzuto, Monica; Cassar, Wilhelmina; Galdies, Ruth; Bezzina Wettinger, Stephanie; Pulis, Svetlana; Hunter, Gary J.; Caruana, Mary R.; Farrugia, Mario; Scerri, Christian A.
2009-11The significance of quantitative HB epidemiology in public health genomics and genetic models of complex diseaseFelice, Alex E.; Galdies, Ruth; Cassar, Wilhelmina; Pizzuto, Monica; Borg, Joseph; Bugeja, Marisa; Caruana, Mary Rose; Farrugia, Mario; Scerri, Christian A.
1998Two new missense mutations (P134T and A244V) in the coagulation factor VII geneAlshinawi, Connie; Scerri, Christian; Galdies, Ruth; Aquilina, Alex; Felice, Alex E.
1993The β+ IVS, I‐NT no. 6 (T→ C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from MaltaScerri, Christian A.; Abela, W.; Galdies, Ruth; Pizzuto, Monica; Grech, Joseph L.; Felice, Alex E.