Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia von Bravo‐Pérez, Carlos, Morena‐Barrio, María Eugenia, Morena‐Barrio, Belén, Miñano, Antonia, Padilla, José, Cifuentes, Rosa, Garrido, Pedro, Vicente, Vicente, Corral, Javier

Volltext

Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients von de la Morena-Barrio, María Eugenia, Bravo-Pérez, Carlos, Miñano, Antonia, de la Morena-Barrio, Belén, Fernandez-Perez, María Piedad, Bernal, Enrique, Gómez-Verdu, José Miguel, Herranz, María Teresa, Vicente, Vicente, Corral, Javier, Lozano, María Luisa

Volltext

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins von Garrido-Rodríguez, Pedro, Carmena-Bargueño, Miguel, de la Morena-Barrio, María Eugenia, Bravo-Pérez, Carlos, de la Morena-Barrio, Belén, Cifuentes-Riquelme, Rosa, Lozano, María Luisa, Pérez-Sánchez, Horacio, Corral, Javier

Volltext

Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods von De la Morena‐Barrio, Belén, Borràs, Nina, Rodríguez‐Alén, Agustín, Morena‐Barrio, María E., García‐Hernández, Juan L., Padilla, José, Bravo‐Pérez, Carlos, Miñano, Antonia, Rollón, Noelia, Corral, Javier, Vidal, Francisco, Vicente, Vicente

Volltext

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency von Cifuentes, Rosa, Padilla, José, de la Morena-Barrio, María Eugenia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Garrido-Rodríguez, Pedro, Llamas, María, Miñano, Antonia, Vicente, Vicente, Lozano, María Luisa, Corral, Javier

Volltext

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect von Bravo-Pérez, Carlos, Toderici, Mara, Chambers, Joseph E, Martínez-Menárguez, José A, Garrido-Rodriguez, Pedro, Pérez-Sanchez, Horacio, de la Morena-Barrio, Belén, Padilla, José, Miñano, Antonia, Cifuentes-Riquelme, Rosa, Vicente, Vicente, Lozano, Maria L, Marciniak, Stefan J, de la Morena-Barrio, Maria Eugenia, Corral, Javier

Volltext

A pilot study on the impact of congenital thrombophilia in COVID‐19 von Morena‐Barrio, Maria Eugenia, Bravo‐Pérez, Carlos, Morena‐Barrio, Belen, Orlando, Christelle, Cifuentes, Rosa, Padilla, Jose, Miñano, Antonia, Herrero, Sonia, Marcellini, Shally, Revilla, Nuria, Bernal, Enrique, Gómez‐Verdú, Jose Miguel, Jochmans, Kristin, Herranz, María Teresa, Vicente, Vicente, Corral, Javier, Lozano, María Luisa

Volltext

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays von de la Morena-Barrio, Maria Eugenia, Suchon, Pierre, Jacobsen, Eva Marie, Iversen, Nina, Miñano, Antonia, de la Morena-Barrio, Belén, Bravo-Perez, Carlos, Padilla, José, Cifuentes, Rosa, Asenjo, Susana, Deleuze, Jean-François, Trégouët, David-Alexandre, Lozano, Maria L, Vicente, Vicente, Sandset, Per Morten, Morange, Pierre-Emmanuel, Corral, Javier

Volltext

Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing von de la Morena-Barrio, Belén, Palomo, Ángeles, Padilla, José, Martín-Fernández, Laura, Rojo-Carrillo, Juan José, Cifuentes, Rosa, Bravo-Pérez, Carlos, Garrido-Rodríguez, Pedro, Miñano, Antonia, Rubio, Ana María, Pagán, Javier, Llamas, María, Vicente, Vicente, Vidal, Francisco, Lozano, María Luisa, Corral, Javier, de la Morena-Barrio, María Eugenia

Volltext

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency von de la Morena-Barrio, Belén, Orlando, Christelle, Sanchis-Juan, Alba, García, Juan L., Padilla, José, de la Morena-Barrio, María E., Puruunen, Marija, Stouffs, Katrien, Cifuentes, Rosa, Borràs, Nina, Bravo-Pérez, Carlos, Benito, Rocio, Cuenca-Guardiola, Javier, Vicente, Vicente, Vidal, Francisco, Hernández-Rivas, Jesús M., Ouwehand, Willem, Jochmans, Kristin, Corral, Javier

Volltext

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome von Morena‐Barrio, María E., Gindele, Réka, Bravo‐Pérez, Carlos, Ilonczai, Péter, Zuazu, Isabel, Speker, Marianna, Oláh, Zsolt, Rodríguez‐Sevilla, Juan J., Entrena, Laura, Infante, Maria S., Morena‐Barrio, Belén, García, José M., Schlammadinger, Ágota, Cifuentes‐Riquelme, Rosa, Mora‐Casado, Asunción, Miñano, Antonia, Padilla, Jose, Vicente, Vicente, Corral, Javier, Bereczky, Zsuzsanna

Volltext

CD56‐ and CD117‐positive neuroendocrine neoplasm presenting with leukemic phase and bone marrow infiltration mimicking acute leukemia von Bravo‐Perez, Carlos, García‐Torralba, Esmeralda, Lopez‐Poveda, María J., Ortuño, Francisco J.

Volltext

KMT2A Rearrangements in Leukemias: Molecular Aspects and Therapeutic Perspectives von Guarnera, Luca, D'Addona, Matteo, Bravo-Perez, Carlos, Visconte, Valeria

Volltext

Neutrophil extracellular traps and von Willebrand factor are allies that negatively influence COVID‐19 outcomes von Fernández‐Pérez, María P., Águila, Sonia, Reguilón‐Gallego, Laura, los Reyes‐García, Ascensión M., Miñano, Antonia, Bravo‐Pérez, Carlos, Morena, María E., Corral, Javier, García‐Barberá, Nuria, Gómez‐Verdú, José M., Bernal, Enrique, Herranz, María T., Vicente, Vicente, Martínez, Constantino, González‐Conejero, Rocío, Lozano, María L.

Volltext

Immunotherapy in Acute Myeloid Leukemia: A Literature Review of Emerging Strategies von Guarnera, Luca, Bravo-Perez, Carlos, Visconte, Valeria

Volltext

Persistent Large Granular Lymphocyte Clonal Expansions: "The Root of Many Evils"-And of Some Goodness von Bravo-Pérez, Carlos, Carrillo-Tornel, Salvador, García-Torralba, Esmeralda, Jerez, Andrés

Volltext

Congenital factor XI deficiency and risk of heart failure in humans von Lova, Alejandro, Pagán, Javier, de la Morena, Gonzalo, Vázquez, David José, Cerezo-Manchado, Juan José, Bravo-Pérez, Carlos, Miñano, Antonia, Tomás, Ana, Vicente, Vicente, Lozano, María Luisa, Corral, Javier, de la Morena-Barrio, María Eugenia

Volltext

Paroxysmal Nocturnal Hemoglobinuria: Biology and Treatment von Bravo-Perez, Carlos, Guarnera, Luca, Williams, Nakisha D, Visconte, Valeria

Volltext

The whole is greater than the sum of its parts: Long‐read sequencing for solving clinical problems in haematology von Bravo‐Perez, Carlos, Cifuentes‐Riquelme, Rosa, Padilla, Jose, de la Morena‐Barrio, Maria E., Ortuño, Francisco J., Garrido‐Rodríguez, Pedro, Amigo, Maria L., Heras, Inmaculada, Vicente, Vicente, Lozano, Maria L., Teruel‐Montoya, Raul, de la Morena‐Barrio, Belen, Corral, Javier

Volltext

Landscape of biallelic DNMT3A mutant myeloid neoplasms von Kawashima, Naomi, Kubota, Yasuo, Bravo-Perez, Carlos, Guarnera, Luca, Williams, Nakisha D, Durmaz, Arda, Witt, Michaela, Ahmed, Arooj, Gurnari, Carmelo, Maciejewski, Jaroslaw P, Visconte, Valeria

Volltext