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Patricia J. Giardina
Researcher at Cornell University
Publications - 166
Citations - 9223
Patricia J. Giardina is an academic researcher from Cornell University. The author has contributed to research in topics: Thalassemia & Population. The author has an hindex of 49, co-authored 166 publications receiving 8672 citations. Previous affiliations of Patricia J. Giardina include Icahn School of Medicine at Mount Sinai & Rockefeller University.
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Journal ArticleDOI
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
Stuart H. Orkin,Haig H. Kazazian,Stylianos E. Antonarakis,Sabra C. Goff,Corinne D. Boehm,Julianne P. Sexton,Pamela G. Waber,Patricia J. Giardina +7 more
TL;DR: Together analysis of DNA polymorphisms in the human β-globin gene cluster and in cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene polymorphisms with particular flanking polymorphisms.
Journal ArticleDOI
A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia.
Maria Domenica Cappellini,Alan R. Cohen,Antonio Piga,Mohamed Bejaoui,Silverio Perrotta,Leyla Agaoglu,Yesim Aydinok,Antonis Kattamis,Yurdanur Kilinç,John B. Porter,Marcello Capra,Renzo Galanello,Slaheddine Fattoum,Guillermo Drelichman,Carmelo Magnano,Mônica Pinheiro de Almeida Veríssimo,Miranda Athanassiou-Metaxa,Patricia J. Giardina,Alexandra Kourakli-Symeonidis,Gritta Janka-Schaub,Thomas D. Coates,Christiane Vermylen,Nancy F. Olivieri,Isabelle Thuret,Herbert Opitz,C. Ressayre-Djaffer,Peter W. Marks,Daniele Alberti +27 more
TL;DR: A comparative phase 3 trial was conducted to demonstrate the efficacy of deferasirox in regularly transfused patients with beta-thalassemia aged 2 years or older, and found it to be a promising once-daily oral therapy for the treatment of transfusional iron overload.
Journal ArticleDOI
Nonrandom association of polymorphic restriction sites in the β-globin gene cluster
TL;DR: A nonrandom association of DNA sequences over 32 kb 5' to the delta-globin gene in all populations studied is suggested, which limits the usefulness of these additional HincII sites for prenatal diagnosis of hemoglobinopathies by linkage analysis.
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Genomic safe harbors permit high β-globin transgene expression in thalassemia induced pluripotent stem cells
Eirini P. Papapetrou,Gabsang Lee,Nirav Malani,Manu Setty,Isabelle Riviere,Laxmi M S Tirunagari,Kyuichi Kadota,Shoshannah L. Roth,Patricia J. Giardina,Agnes Viale,Christina S. Leslie,Frederic D. Bushman,Lorenz Studer,Michel Sadelain +13 more
TL;DR: A strategy to genetically modify human iPS cells at 'safe harbor' sites in the genome, which fulfill five criteria based on their position relative to contiguous coding genes, microRNAs and ultraconserved regions is described.
Journal ArticleDOI
Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trial
Eric Nisbet-Brown,Nancy F. Olivieri,Nancy F. Olivieri,Patricia J. Giardina,Patricia J. Giardina,Robert W. Grady,Robert W. Grady,Ellis J. Neufeld,Romain Sechaud,Axel Krebs-Brown,Judith R Anderson,Daniele Alberti,Kurt C Sizer,David G. Nathan +13 more
TL;DR: ICL670 given once daily at 20 mg/kg seems to be an effective orally active iron chelator and is reasonably well tolerated, and long-term studies are necessary to establish the practical contribution of this drug.