1
TITLE: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
AUTHORS: Pranesh K Chakraborty; Klaus Schmitz Abe; Erin K Kennedy; Hapsatou Mamady; Turaya Naas; Danielle Durie; Dean R Campagna; Ashley Lau; Anoop K Sendamarai; Daniel H Wiseman; Alison May; Stephen Jolles; Philip Connor; Colin Powell; Matthew M Heeney; Patricia Jane Giardina; Robert J Klaassen; Caroline Kannengiesser; Isabelle Thuret; Alexis A Thompson; Laura Marques; Stephen Hughes; Denise K Bonney; Sylvia S Bottomley; Robert F Wynn; Ronald M Laxer; Caterina P Minniti; John Moppett; Victoria Bordon; Michael Geraghty; Paul B M Joyce; Kyriacos Markianos; Adam D Rudner; Martin Holcik; Mark D Fleming; ...More
PUBLISHED: 2014, SOURCE: BLOOD, VOLUME: 124, ISSUE: 18
INDEXED IN: Scopus WOS CrossRef
2
TITLE: A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
AUTHORS: Daniel H Wiseman; Alison May; Stephen Jolles; Philip Connor; Colin Powell; Matthew M Heeney; Patricia J Giardina; Robert J Klaassen; Pranesh Chakraborty; Michael T Geraghty; Nathalie Major Cook; Caroline Kannengiesser; Isabelle Thuret; Alexis A Thompson; Laura Marques; Stephen Hughes; Denise K Bonney; Sylvia S Bottomley; Mark D Fleming; Robert F Wynn;
PUBLISHED: 2013, SOURCE: BLOOD, VOLUME: 122, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
3
TITLE: Potential Therapeutic Applications of Jak2 Inhibitors in Beta-Thalassemia and Sickle Cell Disease
AUTHORS: Carla Casu; Pedro Ramos; Luca Melchiori; Ella Guy; Eliezer A Rachmilewitz; Patricia Giardina; Robert W Grady; Maria de Sousa; Stefano Rivella;
PUBLISHED: 2011, SOURCE: 53rd Annual Meeting and Exposition of the American-Society-of-Hematology (ASH)/Symposium on the Basic Science of Hemostasis and Thrombosis in BLOOD, VOLUME: 118, ISSUE: 21
INDEXED IN: WOS
4
TITLE: Hepcidin as a therapeutic tool to limit iron overload and improve anemia in beta-thalassemic mice
AUTHORS: Sara Gardenghi; Pedro Ramos; Maria Franca Marongiu; Luca Melchiori; Laura Breda; Ella Guy; Kristen Muirhead; Niva Rao; Cindy N Roy; Nancy C Andrews; Elizabeta Nemeth; Antonia Follenzi; Xiuli L An; Narla Mohandas; Yelena Ginzburg; Eliezer A Rachmilewitz; Patricia J Giardina; Robert W Grady; Stefano Rivella;
PUBLISHED: 2010, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 120, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
5
TITLE: Potential Use of Jak2 Inhibitors to Limit Ineffective Erythropoiesis and Reverse Splenomegaly in beta-Thalassemia
AUTHORS: Luca Melchiori; Ella Guy; Ilaria Libani; Raffaella Schiro; Pedro Ramos; Laura Breda; Amy Chadbum; Yi Fang Liu; Maria De Sousa; Eliezer Rachmilewitz; Patricia J Giardina; Robert W Grady; Stefano Rivella;
PUBLISHED: 2008, SOURCE: 50th Annual Meeting of the American-Society-of-Hematology in BLOOD, VOLUME: 112, ISSUE: 11
INDEXED IN: WOS
6
TITLE: Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia
AUTHORS: Ilaria V Libani; Ella C Guy; Luca Melchiori; Raffaella Schiro; Pedro Ramos; Laura Breda; Thomas Scholzen; Amy Chadburn; YiFang F Liu; Margrit Kernbach; Bettina Baron Luehr; Matteo Porotto; Maria de Sousa ; Eliezer A Rachmilewitz; John D Hood; Domenica Cappellini; Patricia J Giardina; Robert W Grady; Johannes Gerdes; Stefano Rivella;
PUBLISHED: 2008, SOURCE: BLOOD, VOLUME: 112, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef