Browsing by Author Borg, Joseph J.

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Issue DateTitleAuthor(s)
2007Environmental risk factors for Parkinson’s disease and Parkinsonism : the Geoparkinson studyDick, Finlay D.; Palma, Giuseppe de; Ahmadi, Ahmad; Scott, Neil W.; Prescott, Gordon James; Bennett, Jami; Semple, Sean; Dick, Smita; Counsell, Carl E.; Mozzoni, Paola; Haites, Neva E.; Bezzina Wettinger, Stephanie; Mutti, Antonio; Otelea, M.; Seaton, Anthony W.H.; Soderkvist, Peter; Felice, Alex; Borg, Joseph J.; Scerri, Christian A.; The Geoparkinson study group
2022Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblastsHeshusius, Steven; Grech, Laura; Gillemans, Nynke; Brouwer, Rutger W. W.; Dekker, Xander T. den; IJcken, Wilfred F. J. van; Nota, Benjamin; Felice, Alex E.; Dijk, Thamar B. van; Lindern, Marieke von; Borg, Joseph J.; Akker, Emile van den; Philipsen, Sjaak
2011Erythroid phenotypes associated with KLF1 mutationsBorg, Joseph J.; Patrinos, George P.; Felice, Alex; Philipsen, Sjaak
2016A European spectrum of pharmacogenomic biomarkers : implications for clinical pharmacogenomicsMizzi, Clint; Dalabira, Eleni; Kumuthini, Judit; Dzimiri, Nduna; Balogh, Istvan; Başak, Nazli; Bohm, Ruwen; Borg, Joseph J.; Borgiani, Paola; Bozina, Nada; Bruckmueller, Henrike; Burzynska, Beata; Carracedo, Angel; Cascorbi, Ingol; Deltas, Constantinos; Dolzan, Vita; Fenech, Anthony G.; Grech, Godfrey; Kasiulevicius, Vytautas; Kadasi, Ludevit; Kucinskas, Vaidutis; Khusnutdinova, Elza; Loukas, Yiannis L.; Macek, Milan; Makukh, Halyna; Mathijssen, Ron; Mitropoulos, Konstantinos; Mitropoulou, Christina; Novelli, Giuseppe; Papantoni, Ioanna; Pavlovic, Sonja; Saglio, Giuseppe; Setric, Jadranka; Stojiljkovic, Maja; Stubbs, Andrew P.; Squassina, Alessio; Torres, Maria; Turnovec, Marek; Schaik, Ron H. van; Voskarides, Konstantinos; Wakil, Salma M.; Werk, Anneke; Zompo, Maria del; Zukic, Branka; Katsila, Theodora; Lee, Ming Ta Michael; Motsinger-Rief, Alison; Mc Leod, Howard L.; Spek, Peter J. van der; Patrinos, George P.; Jr.
2011Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorderSquassina, Alessio; Manchia, Mirko; Borg, Joseph J.; Congiu, Donatella; Costa, Marta; Georgitsi, Marianthi; Chillotti, Caterina; Ardau, Raffaella; Mitropoulos, Konstantinos; Severino, Giovanni; Zompo, Maria Del; Patrinos, George P.
2020A functional single nucleotide polymorphism in the Aγ globin gene promoter affects globin chain synthesisSpiteri, Elena; Grech, Laura; Felice, Alexander E.; Borg, Joseph J.
2007Gene-environment interactions in parkinsonism and Parkinson’s diseaseDick, Finlay D.; Palma, Giuseppe de; Ahmadi, Ahmad; Osborne, Aileen; Scott, Neil W.; Prescott, Gordon James; Bennett, Jami; Semple, Sean; Dick, Smita; Mozzoni, Paola; Haites, Neva E.; Bezzina Wettinger, Stephanie; Mutti, Antonio; Otelea, M.; Seaton, Anthony W.H.; Soderkvist, Peter; Felice, Alex; Borg, Joseph J.; Scerri, Christian A.; The Geoparkinson Study Group
2020Genetic heterogeneity of KLF1, a master regulator of erythropoiesis, revealed an autosomal recessive Ψβ-thalassemia and a very strong promoter in vivoGrech, Laura; Borg, Joseph J.; Galdies, Ruth; Attard, Carmen; Scerri, Christian A.; Philipsen, Sjaak; Felice, Alexander E.
2009Genetic recombination as a major cause of mutagenesis in the human globin gene clustersBorg, Joseph J.; Georgitsi, Marianthi; Aleporou-Marinou, Vassiliki; Kollia, Panagoula; Patrinos, George P.
2015A genetic score for the prediction of beta-thalassemia severityDanjou, Fabrice; Francavilla, Marcella; Anni, Franco; Satta, Stefania; Demartis, Franca-Rosa; Perseu, Lucia; Manca, Matteo; Sollaino, Maria Carla; Manunza, Laura; Mereu, Elisabetta; Marceddu, Giuseppe; Pissard, Serge; Joly, Philippe; Thuret, Isabelle; Origa, Raffaella; Borg, Joseph J.; Forni, Gian Luca; Piga, Antonio; Lai, Maria Eliana; Badens, Catherine; Moi, Paolo; Galanello, Renzo
2018Genetic testing for Granular Corneal Dystrophy type1 in Malta uncovers the causative variant in the transforming growth factor beta induced geneSciriha, Gabriella; Borg, Joseph J.
2013Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacyTafrali, Christina; Paizi, Arsinoi; Borg, Joseph J.; Radmilovic, Milena; Bartsakoulia, Marina; Giannopoulou, Emily; Giannakopoulou, Olga; Stojiljkovic-Petrovic, Maja; Zukic, Branka; Poulas, Konstantinos; Stavrou, Eleana F.; Lambropoulou, Polyxeni; Kourakli, Alexandra; Felice, Alex; Papachatzopoulou, Adamantia; Philipsen, Sjaak; Pavlovic, Sonja; Georgitsi, Marianthi; Patrinos, George P.
2018Haemoglobin gene switching by KLF1 regulatorBorg, Joseph J.; Grech, Laura
2010Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobinBorg, 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
2018Hb F Malta 1 : a biomarker for the developmental control of globin gene switchingCamilleri, Alexander; Galdies, Ruth; Cassar, Wilhelmina; Grech, Laura; Ebejer, Jean Paul; Borg, Joseph J.; Scerri, Christian A.; Felice, Alex E.
2006Hb 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 switchingFelice, Alex E.; Borg, Joseph J.; Cassar, Wilma; Galdies, Ruth; Pizzuto, Monica; Caruana, Maryrose; Scerri, Christian A.
2011HPV positivity varies with technique and primer set, in formalin-fixed paraffin-embedded benign and malignant breast tissue from MaltaMallia, Roderick; Mangion, Jean-Paul; Camenzuli, Christian; Cassar, Analisse; Cacciottolo, Paul; Cauchi, John; Borg, Joseph J.; Ali, Sarfraz; Schembri-Wismayer, Pierre
2015Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approachKarageorgos, Ioannis; Mizzi, Clint; Giannopoulou, Efstathia; Pavlidis, Cristiana; Peters, Brock A.; Zagoriti, Zoi; Stenson, Peter D.; Mitropoulos, Konstantinos; Borg, Joseph J.; Kalofonos, Haralabos P.; Drmanac, Radoje; Stubbs, Andrew; Spek, Peter van der; Cooper, David N.; Katsila, Theodora; Patrinos, George P.
2014Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patientsGravia, Aikaterini; Chondrou, Vasiliki; Sgourou, Argyro; Papantoni, Ioanna; Borg, Joseph J.; Katsila, Theodora; Papachatzopoulou, Adamantia; Patrinos, George P.
2018Inhibition of Wnt-supressing genes regulates non-Canonical Wnt signalling in Pituitary Adenomas (PA)Formosa, Robert; Borg, Joseph J.; Vassallo, Josanne