Sfoglia per Autore
Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency-misdiagnosis by direct sequence analysis using a PCR product
2003 I. Garagiola, R. Palla, F. Peyvandi
The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency
2004 F. Peyvandi, R. De Cristofaro, I. Garagiola, R. Palla, S. Akhavan, R. Landolfi, P.M. Mannucci
The First Deletion Mutation in the TSP1-6 Repeat Domain of ADAMTS13 Leads to a Secretion Defect
2005 F. Peyvandi, S. Lavoretano, R. Palla, I. Garagiola, C. Valsecchi, R. Lombardi, M.T. Canciani, P.M. Mannucci
Localization and Function of Platelet ADAMTS-13
2005 F. Peyvandi, I. Garagiola, A. Artoni, R. Lombardi, R. Palla, R. De Cristofaro, P.M. Mannucci, S. Lavoretano, C. Valsecchi
International Rare Bleeding Disorders Database
2005 F. Peyvandi, R. Palla, M. Menegatti, I. Garagiola, S.M. Siboni, P.M. Mannucci, M. Spreafico, L. Tagliabue, S. Lavoretano, A. Cairo
Role of chloride ions in modulation of the interaction between von Willebrand factor and ADAMTS-13
2005 R. De Cristofaro, F. Peyvandi, R. Palla, S. Lavoretano, R. Lombardi, G. Merati, F. Romitelli, E. Di Stasio, P.M. Mannucci
Perturbation of pKa values of catalytic residues in the NATURAL thrombin : mutant with deletion of Lys9 in the A-chain
2005 R. De Cristofaro, A. Carotti, S. Akhavan, R. Palla, F. Peyvandi, C. Altomare, P.M. Mannucci
Ristocetin accelerates Von Willebrand Factor (VWF) hydrolysis rate and ameliorates Collagen Binding Assay (CBA) sensitivity
2005 R. Palla, R. De Cristofaro, F. Peyvandi, P.M. Mannucci
The thrombospondin-1 N700S polymorphism does not alter von Willebrand Factor multimer size in patients suffering an acute myocardial infarction
2005 J. Zwicker, F. Peyvandi, R. Palla, R. Lombardi, M.T. Canciani, K. Bauer, J. Lawler, P.M. Mannucci
Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene : molecular characterization of a patient with severe FVII deficiency
2005 F. Peyvandi, I. Garagiola, R. Palla, N. Marziliano, P.M. Mannucci
Future perspective of international registry on rare inherited bleeding disorder
2006 F. Peyvandi, M. Spreafico, M. Menegatti, R. Palla, S.M. Siboni, P.M. Mannucci
Future perspective of international registry on rare inherited bleeding disorder
2006 F. Peyvandi, M. Spreafico, M. Menegatti, R. Palla, S.M. Siboni, P.M. Mannucci
Rare bleeding disorders
2006 F. Peyvandi, R.J. Kaufman, U. Seligsohn, O. Salomon, P.H. Bolton-Maggs, M. Spreafico, M. Menegatti, R. Palla, S. Siboni, P.M. Mannucci
The natural mutation by deletion of Lys9 in the thrombin A-chain affects the pK(a) value of catalytic residues, the overall enzyme's stability and conformational transitions linked to Na+ binding
2006 R. De Cristofaro, A. Carotti, S. Akhavan, R. Palla, F. Peyvandi, C. Altomare, P.M. Mannucci
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
2006 F. Peyvandi, S. Lavoretano, R. Palla, C. Valsecchi, G. Merati, R. De Cristofaro, E. Rossi, P.M. Mannucci
Genetics of rare bleeding disorders
2006 F. Peyvandi, I.M. Garagiola, S. Lavoretano, M. Menegatti, R. Palla, M. Spreafico, L. Tagliabue, S. Duga, P.M. Mannucci
Two adjacent homozygous mutations on EGF2 domain of factor X (FX) gene lead to severe FX deficiency
2006 M. Menegatti, R. Palla, F. Peyvandi
Genetic diagnosis of haemophilia and other inherited bleeding disorders
2006 F. Peyvandi, G. Jayandharan, M. Chandy, A. Srivastava, S.M. Nakaya, M.J. Johnson, A.R. Thompson, A. Goodeve, I. Garagiola, S. Lavoretano, M. Menegatti, R. Palla, M. Spreafico, L. Tagliabue, R. Asselta, S. Duga, P.M. Mannucci
The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without altering von Willebrand factor multimer size
2006 J.I. Zwicker, F. Peyvandi, R. Palla, R. Lombardi, M.T. Canciani, A. Cairo, D. Ardissino, L. Bernardinelli, K.A. Bauer, J. Lawler, P.M. Mannucci
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 leads to a secretion defect
2006 S. Lavoretano, R. Palla, I. Garagiola, C. Valsecchi, R. Lombardi, M.T. Canciani, F. Peyvandi
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile