Browsing by Author Philipsen, Sjaak

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Showing results 1 to 13 of 13
Issue DateTitleAuthor(s)
2009Candidate molecular regulators of developmental globin gene switchingBorg, Joseph J.; Phylactides, Marios; Grech, Godfrey; Scerri, Christian A.; Cassar, Wilhelmina; Galdies, Ruth; Lindern, Marieke von; Ijcken, Wilfred van; Ho, Jun; Philipsen, Sjaak; Grosveld, Frank; Patrinos, George P.; Felice, Alex
2011Does quantitative heterogeneity of human fetal hemoglobin (Hb F) reveal friends or foes of KLF1 in globin gene switching?Felice, Alex; Galdies, Ruth; Borg, Joseph J.; Grech, Godfrey; Cassar, Wilhelmina; Scerri, Christian A.; Patrinos, George P.; Philipsen, Sjaak
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
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.
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.
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
2012KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patientsBorg, Joseph J.; Phylactides, Marios; Bartsakoulia, Marina; Tafrali, Christina; Lederer, Carsten W.; Felice, Alex; Papachatzopoulou, Adamantia; Kourakli, Alexandra; Stavrou, Eleana F.; Christou, Soteroula; Hou, Jun; Karkabouna, Sophia; Lappa-Manakou, Christina; Ozgur, Zeliha; Ijcken, Wilfred van; Lindern, Marieke von; Grosveld, Frank G.; Georgitsi, Marianthi; Kleanthous, Marina; Philipsen, Sjaak; Patrinos, George P.
2016Krüppeling erythropoiesis : an unexpected broad spectrum of human red blood cell disorders due to KLF1 variantsPerkins, Andrew; Xu, Xiangmin; Higgs, Douglas R.; Patrinos, George P.; Arnaud, Lionel; Bieker, James J.; Philipsen, Sjaak; Borg, Joseph J.; Klf1 Consensus and Workgroup
2018The role of FLVCR1 isoforms on inter-erythrocytic distribution of human foetal haemoglobinGrech, 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.
2011Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachGiardine, Belinda; Borg, Joseph J.; Higgs, Douglas R.; Peterson, Kenneth R.; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda K.; Anstee, David J.; Basak, Ayse Nazli; Clark, Barnaby; Costa, Flavia C.; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex; Francina, Alain; Galanello, Renzo; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Hoyer, James D.; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Perseu, Lucia; Radmilovic, Milena; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljkovic-Petrovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John S.; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P.
2014Transfusion-independent β 0 -thalassemia after bone marrow transplantation failure : proposed involvement of high parental HbF and an epigenetic mechanismPaciaroni, Katia; Lucarelli, Guido; Martelli, Fabrizio; Migliaccio, Anna Rita; Lindern, Marieke von; Borg, Joseph J.; Gillemans, Nynke; Dijk, Thamar B. van; Philipsen, Sjaak
2019A twenty-five year prospective clinical review and family studies revealed new globin gene regulators for Hb F inductionFelice, Alex E.; Borg, Joseph J.; Grech, Laura; Scerri, Christian A.; Galdies, Ruth; Philipsen, Sjaak