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Journal Articles

Enhancing the Genetic Diversity of FXI Deficiency: Structural Variants and New Cross Reactive Positive Variants

Maria Eugenia de la Morena-Barrio, Belen De La Morena-Barrio, Carlos Bravo-Perez, Antonia Miñano, Jose Padilla, Rosa Cifuentes-Riquelme, Juan Jose Rojo-Carrillo, Angeles Palomo Bravo, Vicente Vicente, Maria Luisa Lozano, Javier Corral
Journal: Blood
Blood (2022) 140 (Supplement 1): 8478–8479.
https://doi.org/10.1182/blood-2022-166251
Published: 2022
Journal Articles

Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients

Maria Luisa Lozano, Ana Zamora-Cánovas, Belen De La Morena-Barrio, Cristina Sierra, Christoph Male, Jose Padilla, Maria Eugenia de la Morena-Barrio, Veronica Palma-Barqueros, Ana Sánchez-Fuentes, Agustín Rodriguez-Alen, Ana Marín-Quílez, Nuria Revilla Calvo, Vicente Vicente, Jose Maria Bastida, Javier Corral, Jose Rivera Pozo
Journal: Blood
Blood (2022) 140 (Supplement 1): 2695–2696.
https://doi.org/10.1182/blood-2022-160181
Published: 2022
Journal Articles

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

Maria Eugenia de la Morena-Barrio, Pierre Suchon, Eva Marie Jacobsen, Nina Iversen, Antonia Miñano, Belén de la Morena-Barrio, Carlos Bravo-Pérez, Jose Padilla, Rosa Cifuentes, Susana Asenjo, Jean François Deleuze, David Alexandre Trégouët, Maria Luisa Lozano, Vicente Vicente, Per Morten Sandset, Pierre Emmanuel Morange, Javier Corral
Journal: Blood
Blood (2022) 140 (2): 140–151.
https://doi.org/10.1182/blood.2021014708
Published: 2022
Includes: Supplemental data
Journal Articles

Molecular and Biological Characterization of Transient Antithrombin Deficiency: A New Concept in Congenital Thrombophilia

Maria Eugenia Eugenia de la Morena-Barrio, Carlos Bravo-Perez, Belen De La Morena-Barrio, Antonia Miñano, Jose Padilla, Rosa Cifuentes-Riquelme, Pedro Garrido, Vicente Vicente, Javier Corral
Journal: Blood
Blood (2021) 138 (Supplement 1): 2118.
https://doi.org/10.1182/blood-2021-153892
Published: 2021
Journal Articles

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

María Eugenia de la Morena-Barrio, Salam Salloum-Asfar, Julio Esteban, Belén de la Morena-Barrio, Carmen Altisent, Laura Martin-Fernández, Paul Gueguen, Jose Padilla, Antonia Miñano, Rafael Parra, Vicente Vicente, Francisco Vidal, Frederic Bauduer, Pablo Carbonell, Javier Corral
Journal: Blood
Blood (2019) 133 (24): 2618–2622.
https://doi.org/10.1182/blood.2019000055
Published: 2019