The molecular basis of quantitative fibrinogen disorders by ASSELTA, R., DUGA, S., TENCHINI, M. L.

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Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ‐module by Asselta, R., Robusto, M., Braidotti, P., Peyvandi, F., Nastasio, S., D'Antiga, L., Perisic, V. N., Maggiore, G., Caccia, S., Duga, S.

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Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen [gamma]-mod... by Asselta, R, Robusto, M, Braidotti, P, Peyvandi, F, Nastasio, S, D'Antiga, L, Perisic, V N, Maggiore, G, Caccia, S, Duga, S

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Molecular investigation of 41 patients affected by coagulation factor XI deficiency by Rimoldi, V., Paraboschi, E. M., Menegatti, M., Peyvandi, F., Salomon, O., Duga, S., Asselta, R.

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Rare coagulation deficiencies by Peyvandi, F., Duga, S., Akhavan, S., Mannucci, P. M.

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Mutations in disguise by DUGA, S., ASSELTA, R.

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Inherited defects of coagulation factor V: the hemorrhagic side by ASSELTA, R., TENCHINI, M. L., DUGA, S.

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The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease by MANNUCCI, P. M., ASSELTA, R., DUGA, S., GUELLA, I., SPREAFICO, M., LOTTA, L., MERLINI, P. A., PEYVANDI, F., KATHIRESAN, S., ARDISSINO, D.

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Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay by Nuzzo, F., Paraboschi, E. M., Straniero, L., Pavlova, A., Duga, S., Castoldi, E.

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The spectrum of factor XI deficiency in Italy by Castaman, G., Giacomelli, S. H., Caccia, S., Riccardi, F., Rossetti, G., Dragani, A., Giuffrida, A. C., Biasoli, C., Duga, S.

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Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies by CASTAMAN, G., PLATÈ, M., GIACOMELLI, S. H., RODEGHIERO, F., DUGA, S.

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Genetic diagnosis of haemophilia and other inherited bleeding disorders by PEYVANDI, F., JAYANDHARAN, G., CHANDY, M., SRIVASTAVA, A., NAKAYA, S. M., JOHNSON, M. J., THOMPSON, A. R., GOODEVE, A., GARAGIOLA, I., LAVORETANO, S., MENEGATTI, M., PALLA, R., SPREAFICO, M., TAGLIABUE, L., ASSELTA, R., DUGA, S., MANNUCCI, P. M.

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TMPRSS2: ERG expression in prostate cancer: Imaging and clinico-pathological correlations by Fasulo, V., Lazzeri, M., Corbetta, M., Paciotti, M., Maffei, D., Asselta, R., Frego, N., Diana, P., Contieri, R., Uleri, A., Casale, P., Chiereghin, C., Saita, A., Lughezzani, G., Zuradelli, M., Hurle, R., Buffi, N., Soldà, G., Duga, S., Guazzoni, G.

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Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency by PARABOSCHI, E. M., KAYIRAN, S. M., ÖZBEK, N., GÜRAKAN, B., PEYVANDI, F., GUELLA, I., DUGA, S., ASSELTA, R.

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Recessively inherited coagulation disorders by Mannucci, Pier Mannuccio, Duga, Stefano, Peyvandi, Flora

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Characterization of the genetic basis of FXI deficiency in two Turkish patients by BERBER, E., RIMOLDI, V., USLUER, S., AKSU, S., PEKCELEN, Y., ÇAĞLAYAN, S. H., DUGA, S.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways by Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction by Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Angelica Merlini, Pier, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange, Leslie A., Peloso, Gina M., Auer, Paul L., Girelli, Domenico, Martinelli, Nicola, Farlow, Deborah N., DePristo, Mark A., Roberts, Robert, Stewart, Alexander F. R., Saleheen, Danish, Danesh, John, Epstein, Stephen E., Sivapalaratnam, Suthesh, Kees Hovingh, G., Kastelein, John J., Samani, Nilesh J., Schunkert, Heribert, Erdmann, Jeanette, Shah, Svati H., Kraus, William E., Davies, Robert, Nikpay, Majid, Johansen, Christopher T., Wang, Jian, Hegele, Robert A., Hechter, Eliana, Marz, Winfried, Kleber, Marcus E., Huang, Jie, Johnson, Andrew D., Li, Mingyao, Burke, Greg L., Gross, Myron, Liu, Yongmei, Assimes, Themistocles L., Heiss, Gerardo, Lange, Ethan M., Folsom, Aaron R., Taylor, Herman A., Olivieri, Oliviero, Hamsten, Anders, Clarke, Robert, Reilly, Dermot F., Yin, Wu, Rivas, Manuel A., Donnelly, Peter, Rossouw, Jacques E., Psaty, Bruce M., Herrington, David M., Wilson, James G., Rich, Stephen S., Bamshad, Michael J., Tracy, Russell P., Adrienne Cupples, L., Rader, Daniel J., Reilly, Muredach P., Spertus, John A., Cresci, Sharon, Hartiala, Jaana, Wilson Tang, W. H., Hazen, Stanley L., Allayee, Hooman, Reiner, Alex P., Carlson, Christopher S., Kooperberg, Charles, Jackson, Rebecca D., Boerwinkle, Eric, Lander, Eric S., Schwartz, Stephen M., Siscovick, David S., McPherson, Ruth, Tybjaerg-Hansen, Anne, Abecasis, Goncalo R., Watkins, Hugh, Nickerson, Deborah A., Ardissino, Diego, Sunyaev, Shamil R., O'Donnell, Christopher J., Altshuler, David, Gabriel, Stacey, Kathiresan, Sekar

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The DNA‐pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia by MONALDINI, L., ASSELTA, R., MALCOVATI, M., TENCHINI, M. L., DUGA, S.

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A novel fibrinogen γ chain mutation (γ 239 Gln→His) is the cause of dysfibrinogenemia Vicenza by CASTAMAN, G., GHIOTTO, R., DUGA, S., RODEGHIERO, F.

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