BURY, LOREDANA
BURY, LOREDANA
Dipartimento di Medicina e Chirurgia
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
2016 Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V. V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J. A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W. M; Henskens, Yvonne M. C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M; Nathwani, Amit; Neerman Arbez, Marguerite; Nurden, Alan T; Nurden, Paquita; Othman, Maha; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Reitsma, Pieter; Rondina, Matthew T; Smethurst, Peter A; Stevenson, William; Szkotak, Artur; Tuna, Salih; van Geet, Christel; Whitehorn, Deborah; Wilcox, David A; Zhang, Bin; Revel Vilk, Shoshana; Gresele, Paolo; Bellissimo, Daniel B; Penkett, Christopher J; Laffan, Michael A; Mumford, Andrew D; Rendon, Augusto; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Turro, Ernest
A novel congenital dysprothrombinemia leading to defective prothrombin maturation.
2014 Bafunno, V; Bury, Loredana; Tiscia, Gl; Fierro, Tiziana; Favuzzi, G; Caliandro, R; Sessa, F; Grandone, Elvira; Margaglione, M; Gresele, Paolo
A novel mechanism regulating human platelet activation by MMP-2-mediated PAR1 biased signaling
2017 Sebastiano, Manuela; Momi, Stefania; Falcinelli, Emanuela; Bury, Loredana; Hoylaerts, Marc F; Gresele, Paolo
A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.
2018 Bury, L; Zetterberg, E; Leinoe, Eb; Falcinelli, E; Marturano, A; Manni, G; Nurden, At; Gresele, P
A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD
2021 Bury, Loredana; Falcinelli, Emanuela; Kuchi Bhotla, Haripriya; Mezzasoma, Anna Maria; Guglielmini, Giuseppe; Tischer, Alexander; Moon-Tasson, Laurie; Auton, Matthew; Gresele, Paolo
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
2014 Noris, P; Schlegel, N; Klersy, C; Heller, Pg; Civaschi, E; Pujol Moix, N; Fabris, F; Favier, R; Gresele, Paolo; Latger Cannard, V; Cuker, A; Nurden, P; Greinacher, A; Cattaneo, M; De Candia, E; Pecci, A; Hurtaud Roux, Mf; Glembotsky, Ac; Muñiz Diaz, E; Randi, Ml; Trillot, N; Bury, Loredana; Lecompte, T; Marconi, C; Savoia, A; Balduini, Cl; Bayart, S; Bauters, A; Benabdallah Guedira, S; Boehlen, F; Borg, Jy; Bottega, R; Bussel, J; De Rocco, D; de Maistre, E; Faleschini, M; Falcinelli, E; Ferrari, S; Ferster, A; Fierro, Tiziana; Fleury, D; Fontana, P; James, C; Lanza, F; Le Cam Duchez, V; Loffredo, G; Magini, P; Martin Coignard, D; Menard, F; Mercier, S; Mezzasoma, A; Minuz, P; Nichele, I; Notarangelo, Ld; Pippucci, T; Podda, Gm; Pouymayou, C; Rigouzzo, A; Royer, B; Sie, P; Siguret, V; Trichet, C; Tucci, A; Saposnik, B; Veneri, D.
Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders
2015 Civaschi, Elisa; Klersy, Catherine; Melazzini, Federica; Pujol Moix, Nuria; Santoro, Cristina; Cattaneo, Marco; Lavenu Bombled, Cécile; Bury, Loredana; Minuz, Pietro; Nurden, Paquita; Cid, Ana R.; Cuker, Adam; Latger Cannard, Véronique; Favier, Remi; Nichele, Ilaria; Noris, Patrizia
Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study.
2020 Paciullo, F; Bury, L; Noris, P; Falcinelli, E; Melazzini, F; Orsini, S; Zaninetti, C; Abdul-Kadir, R; Obeng-Tuudah, D; Heller, Pg; Glembotsky, Ac; Fabris, F; Rivera, J; Lozano, Ml; Butta, N; Favier, R; Cid, Ar; Fouassier, M; Podda, Gm; Santoro, C; Grandone, E; Henskens, Y; Nurden, P; Zieger, B; Cuker, A; Devreese, K; Tosetto, A; De Candia, E; Dupuis, A; Miyazaki, K; Othman, M; Gresele, P.
Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.
2013 Gresele, Paolo; De Rocco, D; Bury, Loredana; Fierro, Tiziana; Mezzasoma, Anna Maria; Pecci, A; Savoia, A.
Association of human leucocyte antigen loci with vaccine-induced immune thrombotic thrombocytopenia: Potential role of the interaction between platelet factor 4-derived peptides and MHC-II
2024 Petito, Eleonora; Bury, Loredana; Antunes Heck, Lilian; Sadler, Brooke; De Candia, Erica; Podda, Gian Marco; Falanga, Anna; Stefanini, Lucia; Boccatonda, Andrea; Sciancalepore, Patrizia; Florio, Igor; Imbalzano, Egidio; Marcucci, Rossella; Noris, Patrizia; Panella, Marta; Santoro, Rita Carlotta; Turi, Maria Costanza; Vaudo, Gaetano; Di Paola, Jorge; Rondina, Matthew T; Gresele, Paolo
Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC
2024 Gresele, Paolo; Falcinelli, Emanuela; Bury, Loredana; Alessi, Marie-Christine; Guglielmini, Giuseppe; Falaise, Céline; Podda, Gianmarco; Fiore, Mathieu; Mazziotta, Francesco; Sevivas, Teresa; Bermejo, Nuria; De Candia, Erica; Chitlur, Meera; Lambert, Michele P; Barcella, Luca; Glembotsky, Ana C; Lordkipanidzé, Marie
Association of Neutrophil Activation, More Than Platelet Activation, with Thrombotic Complications in Coronavirus Disease 2019
2021 Petito, E.; Falcinelli, E.; Paliani, U.; Cesari, E.; Vaudo, G.; Sebastiano, M.; Cerotto, V.; Guglielmini, G.; Gori, F.; Malvestiti, M.; Becattini, C.; Paciullo, F.; De Robertis, E.; Bury, L.; Lazzarini, T.; Gresele, P.
Association of Neutrophil Activation, More Than Platelet Activation, with Thrombotic Complications in Coronavirus Disease 2019
2021 Petito, E.; Falcinelli, E.; Paliani, U.; Cesari, E.; Vaudo, G.; Sebastiano, M.; Cerotto, V.; Guglielmini, G.; Gori, F.; Malvestiti, M.; Becattini, C.; Paciullo, F.; De Robertis, E.; Bury, L.; Lazzarini, T.; Gresele, P.
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. The Surgery in Platelet disorders And Therapeutic Approach (SPATA) study
2017 Orsini, Sara; Noris, Patrizia; Bury, Loredana; Heller, Paula G; Santoro, Cristina; Kadir, Rezan A; Butta, Nora C; Falcinelli, Emanuela; Cid, Ana Rosa; Fabris, Fabrizio; Fouassier, Marc; Miyazaki, Koji; Lozano, Maria Luisa; Zuñiga, Pamela; Flaujac, Claire; Podda, Gian Marco; Bermejo, Nuria; Favier, Remi; Henskens, Yvonne; De Maistre, Emmanuel; De Candia, Erica; Mumford, Andrew D; Ozdemir, Nihal G; Eker, Ibrahim; Nurden, Paquita; Bayart, Sophie; Lambert, Michele P; Bussel, James; Zieger, Barbara; Tosetto, Alberto; Melazzini, Federica; Glembotsky, Ana C; Pecci, Alessandro; Cattaneo, Marco; Schlegel, Nicole; Gresele, Paolo
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
2019 Megy, K; Downes, K; Simeoni, I; Bury, L; Morales, J; Mapeta, R; Bellissimo, Db; Bray, Pf; Goodeve, Ac; Gresele, P; Lambert, M; Reitsma, P; Ouwehand, Wh; Freson, K
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
2016 Bury, Loredana; Falcinelli, Emanuela; Chiasserini, Davide; Springer, Timothy A; Italiano, Joseph E; Gresele, Paolo
Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.
2014 Gresele, Paolo; Harrison, P; Bury, Loredana; Falcinelli, Emanuela; Gachet, C; Hayward, Cp; Kenny, D; Mezzano, D; Mumford, Ad; Nugent, D; Nurden, At; Orsini, Sara; Cattaneo, M.
Eltrombopag to allow chemotherapy in a patient with MYH9-related inherited thrombocytopenia and pancreatic cancer
2020 Paciullo, Francesco; Bury, Loredana; Gresele, Paolo
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
2024 Ross, Justyne E; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; Mcdougal, Dara; Perez Botero, Juliana; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I; Megy, Karyn; Morange, Pierre-Emmanuel; Morgan, Neil V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P
Expanding the genetic spectrum of TUBB1-related thrombocytopenia
2021 Palma-Barqueros, V.; Bury, L.; Kunishima, S.; Lozano, M. L.; Rodriguez-Alen, A.; Revilla, N.; Bohdan, N.; Padilla, J.; Fernandez-Perez, M. P.; de la Morena-Barrio, M. E.; Marin-Quiles, A.; Benito, R.; Lopez-Fernandez, M. F.; Marcellini, S.; Zamora-Canovas, A.; Vicente, V.; Martinez, C.; Gresele, P.; Bastida, J. M.; Rivera, J.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders | 2016 | Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V. V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J. A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W. M; Henskens, Yvonne M. C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M; Nathwani, Amit; Neerman Arbez, Marguerite; Nurden, Alan T; Nurden, Paquita; Othman, Maha; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Reitsma, Pieter; Rondina, Matthew T; Smethurst, Peter A; Stevenson, William; Szkotak, Artur; Tuna, Salih; van Geet, Christel; Whitehorn, Deborah; Wilcox, David A; Zhang, Bin; Revel Vilk, Shoshana; Gresele, Paolo; Bellissimo, Daniel B; Penkett, Christopher J; Laffan, Michael A; Mumford, Andrew D; Rendon, Augusto; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Turro, Ernest | |
| A novel congenital dysprothrombinemia leading to defective prothrombin maturation. | 2014 | Bafunno, V; Bury, Loredana; Tiscia, Gl; Fierro, Tiziana; Favuzzi, G; Caliandro, R; Sessa, F; Grandone, Elvira; Margaglione, M; Gresele, Paolo | |
| A novel mechanism regulating human platelet activation by MMP-2-mediated PAR1 biased signaling | 2017 | Sebastiano, Manuela; Momi, Stefania; Falcinelli, Emanuela; Bury, Loredana; Hoylaerts, Marc F; Gresele, Paolo | |
| A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations. | 2018 | Bury, L; Zetterberg, E; Leinoe, Eb; Falcinelli, E; Marturano, A; Manni, G; Nurden, At; Gresele, P | |
| A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD | 2021 | Bury, Loredana; Falcinelli, Emanuela; Kuchi Bhotla, Haripriya; Mezzasoma, Anna Maria; Guglielmini, Giuseppe; Tischer, Alexander; Moon-Tasson, Laurie; Auton, Matthew; Gresele, Paolo | |
| Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. | 2014 | Noris, P; Schlegel, N; Klersy, C; Heller, Pg; Civaschi, E; Pujol Moix, N; Fabris, F; Favier, R; Gresele, Paolo; Latger Cannard, V; Cuker, A; Nurden, P; Greinacher, A; Cattaneo, M; De Candia, E; Pecci, A; Hurtaud Roux, Mf; Glembotsky, Ac; Muñiz Diaz, E; Randi, Ml; Trillot, N; Bury, Loredana; Lecompte, T; Marconi, C; Savoia, A; Balduini, Cl; Bayart, S; Bauters, A; Benabdallah Guedira, S; Boehlen, F; Borg, Jy; Bottega, R; Bussel, J; De Rocco, D; de Maistre, E; Faleschini, M; Falcinelli, E; Ferrari, S; Ferster, A; Fierro, Tiziana; Fleury, D; Fontana, P; James, C; Lanza, F; Le Cam Duchez, V; Loffredo, G; Magini, P; Martin Coignard, D; Menard, F; Mercier, S; Mezzasoma, A; Minuz, P; Nichele, I; Notarangelo, Ld; Pippucci, T; Podda, Gm; Pouymayou, C; Rigouzzo, A; Royer, B; Sie, P; Siguret, V; Trichet, C; Tucci, A; Saposnik, B; Veneri, D. | |
| Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders | 2015 | Civaschi, Elisa; Klersy, Catherine; Melazzini, Federica; Pujol Moix, Nuria; Santoro, Cristina; Cattaneo, Marco; Lavenu Bombled, Cécile; Bury, Loredana; Minuz, Pietro; Nurden, Paquita; Cid, Ana R.; Cuker, Adam; Latger Cannard, Véronique; Favier, Remi; Nichele, Ilaria; Noris, Patrizia | |
| Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study. | 2020 | Paciullo, F; Bury, L; Noris, P; Falcinelli, E; Melazzini, F; Orsini, S; Zaninetti, C; Abdul-Kadir, R; Obeng-Tuudah, D; Heller, Pg; Glembotsky, Ac; Fabris, F; Rivera, J; Lozano, Ml; Butta, N; Favier, R; Cid, Ar; Fouassier, M; Podda, Gm; Santoro, C; Grandone, E; Henskens, Y; Nurden, P; Zieger, B; Cuker, A; Devreese, K; Tosetto, A; De Candia, E; Dupuis, A; Miyazaki, K; Othman, M; Gresele, P. | |
| Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule. | 2013 | Gresele, Paolo; De Rocco, D; Bury, Loredana; Fierro, Tiziana; Mezzasoma, Anna Maria; Pecci, A; Savoia, A. | |
| Association of human leucocyte antigen loci with vaccine-induced immune thrombotic thrombocytopenia: Potential role of the interaction between platelet factor 4-derived peptides and MHC-II | 2024 | Petito, Eleonora; Bury, Loredana; Antunes Heck, Lilian; Sadler, Brooke; De Candia, Erica; Podda, Gian Marco; Falanga, Anna; Stefanini, Lucia; Boccatonda, Andrea; Sciancalepore, Patrizia; Florio, Igor; Imbalzano, Egidio; Marcucci, Rossella; Noris, Patrizia; Panella, Marta; Santoro, Rita Carlotta; Turi, Maria Costanza; Vaudo, Gaetano; Di Paola, Jorge; Rondina, Matthew T; Gresele, Paolo | |
| Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC | 2024 | Gresele, Paolo; Falcinelli, Emanuela; Bury, Loredana; Alessi, Marie-Christine; Guglielmini, Giuseppe; Falaise, Céline; Podda, Gianmarco; Fiore, Mathieu; Mazziotta, Francesco; Sevivas, Teresa; Bermejo, Nuria; De Candia, Erica; Chitlur, Meera; Lambert, Michele P; Barcella, Luca; Glembotsky, Ana C; Lordkipanidzé, Marie | |
| Association of Neutrophil Activation, More Than Platelet Activation, with Thrombotic Complications in Coronavirus Disease 2019 | 2021 | Petito, E.; Falcinelli, E.; Paliani, U.; Cesari, E.; Vaudo, G.; Sebastiano, M.; Cerotto, V.; Guglielmini, G.; Gori, F.; Malvestiti, M.; Becattini, C.; Paciullo, F.; De Robertis, E.; Bury, L.; Lazzarini, T.; Gresele, P. | |
| Association of Neutrophil Activation, More Than Platelet Activation, with Thrombotic Complications in Coronavirus Disease 2019 | 2021 | Petito, E.; Falcinelli, E.; Paliani, U.; Cesari, E.; Vaudo, G.; Sebastiano, M.; Cerotto, V.; Guglielmini, G.; Gori, F.; Malvestiti, M.; Becattini, C.; Paciullo, F.; De Robertis, E.; Bury, L.; Lazzarini, T.; Gresele, P. | |
| Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. The Surgery in Platelet disorders And Therapeutic Approach (SPATA) study | 2017 | Orsini, Sara; Noris, Patrizia; Bury, Loredana; Heller, Paula G; Santoro, Cristina; Kadir, Rezan A; Butta, Nora C; Falcinelli, Emanuela; Cid, Ana Rosa; Fabris, Fabrizio; Fouassier, Marc; Miyazaki, Koji; Lozano, Maria Luisa; Zuñiga, Pamela; Flaujac, Claire; Podda, Gian Marco; Bermejo, Nuria; Favier, Remi; Henskens, Yvonne; De Maistre, Emmanuel; De Candia, Erica; Mumford, Andrew D; Ozdemir, Nihal G; Eker, Ibrahim; Nurden, Paquita; Bayart, Sophie; Lambert, Michele P; Bussel, James; Zieger, Barbara; Tosetto, Alberto; Melazzini, Federica; Glembotsky, Ana C; Pecci, Alessandro; Cattaneo, Marco; Schlegel, Nicole; Gresele, Paolo | |
| Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH. | 2019 | Megy, K; Downes, K; Simeoni, I; Bury, L; Morales, J; Mapeta, R; Bellissimo, Db; Bray, Pf; Goodeve, Ac; Gresele, P; Lambert, M; Reitsma, P; Ouwehand, Wh; Freson, K | |
| Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia | 2016 | Bury, Loredana; Falcinelli, Emanuela; Chiasserini, Davide; Springer, Timothy A; Italiano, Joseph E; Gresele, Paolo | |
| Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. | 2014 | Gresele, Paolo; Harrison, P; Bury, Loredana; Falcinelli, Emanuela; Gachet, C; Hayward, Cp; Kenny, D; Mezzano, D; Mumford, Ad; Nugent, D; Nurden, At; Orsini, Sara; Cattaneo, M. | |
| Eltrombopag to allow chemotherapy in a patient with MYH9-related inherited thrombocytopenia and pancreatic cancer | 2020 | Paciullo, Francesco; Bury, Loredana; Gresele, Paolo | |
| Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework | 2024 | Ross, Justyne E; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; Mcdougal, Dara; Perez Botero, Juliana; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I; Megy, Karyn; Morange, Pierre-Emmanuel; Morgan, Neil V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P | |
| Expanding the genetic spectrum of TUBB1-related thrombocytopenia | 2021 | Palma-Barqueros, V.; Bury, L.; Kunishima, S.; Lozano, M. L.; Rodriguez-Alen, A.; Revilla, N.; Bohdan, N.; Padilla, J.; Fernandez-Perez, M. P.; de la Morena-Barrio, M. E.; Marin-Quiles, A.; Benito, R.; Lopez-Fernandez, M. F.; Marcellini, S.; Zamora-Canovas, A.; Vicente, V.; Martinez, C.; Gresele, P.; Bastida, J. M.; Rivera, J. |