1
TÍTULO: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2014, FONTE: BLOOD, VOLUME: 124, NÚMERO: 18
INDEXADO EM: Scopus WOS CrossRef
2
TÍTULO: A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
AUTORES: 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;
PUBLICAÇÃO: 2013, FONTE: BLOOD, VOLUME: 122, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef
3
TÍTULO: Potential Therapeutic Applications of Jak2 Inhibitors in Beta-Thalassemia and Sickle Cell Disease
AUTORES: Carla Casu; Pedro Ramos; Luca Melchiori; Ella Guy; Eliezer A Rachmilewitz; Patricia Giardina; Robert W Grady; Maria de Sousa; Stefano Rivella;
PUBLICAÇÃO: 2011, FONTE: 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, NÚMERO: 21
INDEXADO EM: WOS
4
TÍTULO: Hepcidin as a therapeutic tool to limit iron overload and improve anemia in beta-thalassemic mice
AUTORES: 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;
PUBLICAÇÃO: 2010, FONTE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 120, NÚMERO: 12
INDEXADO EM: Scopus WOS CrossRef
5
TÍTULO: Potential Use of Jak2 Inhibitors to Limit Ineffective Erythropoiesis and Reverse Splenomegaly in beta-Thalassemia
AUTORES: 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;
PUBLICAÇÃO: 2008, FONTE: 50th Annual Meeting of the American-Society-of-Hematology in BLOOD, VOLUME: 112, NÚMERO: 11
INDEXADO EM: WOS
6
TÍTULO: Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia
AUTORES: 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;
PUBLICAÇÃO: 2008, FONTE: BLOOD, VOLUME: 112, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef