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Marta Spreafico
Researcher at University of Milan
Publications - 34
Citations - 2230
Marta Spreafico is an academic researcher from University of Milan. The author has contributed to research in topics: Gene & Factor V. The author has an hindex of 20, co-authored 31 publications receiving 2114 citations.
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Journal ArticleDOI
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Sekar Kathiresan,Benjamin F. Voight,Shaun Purcell,Kiran Musunuru,Diego Ardissino,Pier Mannuccio Mannucci,Sonia S. Anand,James C. Engert,Nilesh J. Samani,Heribert Schunkert,Jeanette Erdmann,Muredach P. Reilly,Daniel J. Rader,Thomas M. Morgan,John A. Spertus,Monika Stoll,Domenico Girelli,Pascal P. McKeown,Christopher Patterson,David S. Siscovick,Christopher J. O'Donnell,Roberto Elosua,Leena Peltonen,Veikko Salomaa,Stephen M. Schwartz,Olle Melander,David Altshuler,Pier Angelica Merlini,Carlo Berzuini,Luisa Bernardinelli,Flora Peyvandi,Marco Tubaro,Patrizia Celli,Maurizio Ferrario,Raffaela Fetiveau,Nicola Marziliano,Giorgio Casari,Michele Galli,Flavio Ribichini,Marco Rossi,Francesco Bernardi,Pietro Zonzin,Alberto Piazza,Jean Yee,Yechiel Friedlander,Jaume Marrugat,Gavin Lucas,Isaac Subirana,Joan Sala,Rafael Ramos,James B. Meigs,Gordon H. Williams,David M. Nathan,Calum A. MacRae,Aki S. Havulinna,Göran Berglund,Joel N. Hirschhorn,Rosanna Asselta,Stefano Duga,Marta Spreafico,Mark J. Daly,James Nemesh,Joshua M. Korn,Steven A. McCarroll,Aarti Surti,Candace Guiducci,Lauren Gianniny,Daniel B. Mirel,Melissa Parkin,Noël P. Burtt,Stacey Gabriel,John R. Thompson,Peter S. Braund,Benjamin J. Wright,Anthony J. Balmforth,Stephen G. Ball,Alistair S. Hall,Patrick Linsel-Nitschke,Wolfgang Lieb,Andreas Ziegler,Inke R. König,Christian Hengstenberg,Marcus Fischer,Klaus Stark,Anika Grosshennig,Michael Preuss,H-Erich Wichmann,Stefan Schreiber,Willem H. Ouwehand,Panos Deloukas,Michael Scholz,François Cambien,Mingyao Li,Zhen Chen,Robert L. Wilensky,William H. Matthai,Atif Qasim,Hakon Hakonarson,Joe Devaney,Mary-Susan Burnett,Augusto D. Pichard,Kenneth M. Kent,Lowell F. Satler,Joseph M. Lindsay,Ron Waksman,Stephen E. Epstein,Thomas Scheffold,Klaus Berger,Andreas Huge,Nicola Martinelli,Oliviero Olivieri,Roberto Corrocher,Hilma Holm,Gudmar Thorleifsson,Unnur Thorsteinsdottir,Kari Stefansson,Ron Do,Changchun Xie,David S. Siscovick +118 more
TL;DR: SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with my Cardiovascular Infarction risk.
Journal ArticleDOI
Rare bleeding disorders
TL;DR: The main features, diagnosis, available treatment options and treatment complications of the platelet disorders, caused by abnormalities in platelet receptors for adhesive proteins, platelets receptors for soluble agonists, platelet granules, signal transduction pathways, or procoagulant phospholipids will be discussed.
Journal ArticleDOI
Genetic diagnosis of haemophilia and other inherited bleeding disorders.
Flora Peyvandi,Giridhara R. Jayandharan,Mammen Chandy,Arun Srivastava,S. M. Nakaya,M. J. Johnson,Arthur R. Thompson,Anne Goodeve,Isabella Garagiola,Silvia Lavoretano,Marzia Menegatti,Roberta Palla,Marta Spreafico,L. Tagliabue,Rosanna Asselta,Stefano Duga,Pier Mannuccio Mannucci +16 more
TL;DR: The genetic diagnosis of haemophilia, genetics and inhibitor development, genetics of von Willebrand's disease and of rare bleeding disorders are reviewed.
Journal ArticleDOI
CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy.
TL;DR: Variant alleles of the CYP2C9 gene encoding the cytochrome P450 (CYP) enzyme are known to increase the anticoagulant effect of warfarin and decrease the mean daily dose required to maintain the international normalized ratio (INR) of the prothrombin time within the target therapeutic range.
Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction
Diego Ardissino,Carlo Berzuini,Piera Angelica Merlini,Pier Mannuccio Mannucci,Aarti Surti,Noël P. Burtt,Benjamin F. Voight,Marco Tubaro,Flora Peyvandi,Marta Spreafico,Patrizia Celli,Daniela Lina,Maria Francesca Notarangelo,Maurizio Ferrario,Raffaela Fetiveau,Giorgio Casari,Michele Galli,Flavio Ribichini,Marco Rossi,Francesco Bernardi,Nicola Marziliano,Pietro Zonzin,Francesco Mauri,Alberto Piazza,Luisa Foco,Luisa Bernardinelli,David Altshuler,Sekar Kathiresan +27 more
TL;DR: In early-onset myocardial infarction, the 9p21.3 variant rs1333040 affects the progression of coronary atherosclerosis and the probability of coronary artery revascularization during long-term follow-up.