Understanding the extent of the diagnostic potential of coagulation factors

被引:3
作者
Favaloro, Emmanuel J. [1 ,2 ]
Lippi, Giuseppe [3 ]
机构
[1] Westmead Hosp, Inst Clin Pathol & Med Res ICPMR, NSW Hlth Pathol, Haematol, Westmead, NSW, Australia
[2] Westmead Hosp, Sydney Ctr Thrombosis & Haemostasis, Westmead, NSW, Australia
[3] Univ Verona, Sect Clin Biochem, Verona, Italy
关键词
Coagulation factors; diagnosis; phenotypic testing; molecular testing; genetic testing;
D O I
10.1080/14737159.2020.1711735
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:273 / 276
页数:4
相关论文
共 15 条
  • [1] Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders
    Bastida, J. M.
    del Rey, M.
    Lozano, M. L.
    Sarasquete, M. E.
    Benito, R.
    Fontecha, M. E.
    Fisac, R.
    Garcia-Frade, L. J.
    Aguilar, C.
    Martinez, M. P.
    Pardal, E.
    Aguilera, C.
    Perez, B.
    Ramos, R.
    Cardesa, M. R.
    Martin-Antoran, J. M.
    Silvestre, L. A.
    Cebeira, M. J.
    Bermejo, N.
    Riesco, S.
    Mendoza, M. C.
    Garcia-Sanz, R.
    Gonzalez-Diaz, M.
    Hernandez-Rivas, J. M.
    Gonzalez-Porras, J. R.
    [J]. HAEMOPHILIA, 2016, 22 (04) : 590 - 597
  • [2] Update on Molecular Testing in von Willebrand Disease
    Batlle, Javier
    Perez-Rodriguez, Almudena
    Corrales, Irene
    Borras, Nina
    Costa Pinto, Joana
    Fernanda Lopez-Fernandez, Maria
    Vidal, Francisco
    Cid, Ana Rosa
    Bonanad, Santiago
    Parra, Rafael
    Eva Mingot-Castellano, Maria
    Navarro, Nira
    Altisent, Carmen
    Perez-Montes, Rocio
    Marcellini, Shally
    Moreto, Ana
    Herrero, Sonia
    Soto, Inmaculada
    Bernardo-Gutierrez, Angel
    Fernandez Mosteirin, Nuria
    Jimenez-Yuste, Victor
    Alonso, Nieves
    Jacob, Aurora de Andres
    Fontanes, Emilia
    Campos, Rosa
    Jose Paloma, Maria
    Bermejo, Nuria
    Berrueco, Ruben
    Mateo, Jose
    Arribalzaga, Karmele
    Marco, Pascual
    Palomo, Angeles
    Castro Quismondo, Nerea
    Inigo, Belen
    del Mar Nieto, Maria
    Vidal, Rosa
    Paz Martinez, Maria
    Aguinaco, Reyes
    Tenorio, Maria
    Ferreiro, Maria
    Garcia-Frade, Javier
    Maria Rodriguez-Huerta, Ana
    Cuesta, Jorge
    Rodriguez-Gonzalez, Ramon
    Garcia-Candel, Faustino
    Dobon, Manuela
    Aguilar, Carlos
    Maria Bastida, Jose
    Nunez, Ramiro
    Azanzazu Aguirre, Maria
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2019, 45 (07) : 708 - 719
  • [3] Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
    Downes, Kate
    Megy, Karyn
    Duarte, Daniel
    Vries, Minka
    Gebhart, Johanna
    Hofer, Stefanie
    Shamardina, Olga
    Deevi, Sri V. V.
    Stephens, Jonathan
    Mapeta, Rutendo
    Tuna, Salih
    Al Hasso, Namir
    Besser, Martin W.
    Cooper, Nichola
    Daugherty, Louise
    Gleadall, Nick
    Greene, Daniel
    Haimel, Matthias
    Martin, Howard
    Papadia, Sofia
    Revel-Vilk, Shoshana
    Sivapalaratnam, Suthesh
    Symington, Emily
    Thomas, Will
    Thys, Chantal
    Tolios, Alexander
    Penkett, Christopher J.
    Ouwehand, Willem H.
    Abbs, Stephen
    Laffan, Michael A.
    Turro, Ernest
    Simeoni, Ilenia
    Mumford, Andrew D.
    Henskens, Yvonne M. C.
    Pabinger, Ingrid
    Gomez, Keith
    Freson, Kathleen
    [J]. BLOOD, 2019, 134 (23) : 2082 - 2091
  • [4] Duncan E, 2017, METHODS MOL BIOL, V1646, P247, DOI 10.1007/978-1-4939-7196-1_20
  • [5] Favaloro EJ, 2017, METHODS MOL BIOL, V1646, P391, DOI 10.1007/978-1-4939-7196-1_29
  • [6] Innovative Molecular Testing Strategies for Adjunctive Investigations in Hemostasis and Thrombosis
    Ghorbanpour, Elham
    Lillicrap, David
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2019, 45 (07) : 751 - 756
  • [7] Factor Activity Assays for Monitoring Extended Half-Life FVIII and Factor IX Replacement Therapies
    Kitchen, Steve
    Tiefenbacher, Stefan
    Gosselin, Robert
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2017, 43 (03) : 331 - 337
  • [8] Next-Generation Sequencing and Emerging Technologies
    Kumar, Kishore R.
    Cowley, Mark J.
    Davis, Ryan L.
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2019, 45 (07) : 661 - 673
  • [9] Diagnostics of Inherited Bleeding Disorders of Secondary Hemostasis: An Easy Guide for Routine Clinical Laboratories
    Lippi, Giuseppe
    Franchini, Massimo
    Favaloro, Emmanuel J.
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2016, 42 (05) : 471 - 477
  • [10] Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders
    Maria Bastida, Jose
    Benito, Rocio
    Luisa Lozano, Maria
    Marin-Quilez, Ana
    Janusz, Kamila
    Martin-Izquierdo, Marta
    Hernandez-Sanchez, Jesus
    Palma-Barqueros, Veronica
    Maria Hernandez-Rivas, Jesus
    Rivera, Jose
    Ramon Gonzalez-Porras, Jose
    [J]. SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2019, 45 (07) : 695 - 707