Improvement of large copy number variant detection by whole genome nanopore sequencing

por Cuenca-Guardiola, Javier, de la Morena-Barrio, Belén, García, Juan L., Sanchis-Juan, Alba, Corral, Javier, Fernández-Breis, Jesualdo T.
Publicado 2022

Incidence and features of thrombosis in children with inherited antithrombin deficiency

por de la Morena-Barrio, Belén, Orlando, Christelle, de la Morena-Barrio, María Eugenia, Vicente, Vicente, Jochmans, Kristin, Corral, Javier
Publicado 2019

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

por de la Morena‐Barrio, María Eugenia, Sabater, María, de la Morena‐Barrio, Belén, Ruhaak, Renee L., Miñano, Antonia, Padilla, José, Toderici, Mara, Roldán, Vanessa, Gimeno, Juan R., Vicente, Vicente, Corral, Javier
Publicado 2020

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency

por 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
Publicado 2023

Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

por Weronska, Anna, de la Morena-Barrio, Belen, Goldman-Mazur, Sarah, de la Morena-Barrio, Maria Eugenia, Padilla, José, Miñano, Antonia, Garrido-Rodriguez, Pedro, Trelihski, Jacek, Potaczek, Daniel Piotr, Szczepanek, Anita, Undas, Anetta, Corral, Javier, Wypasek, Ewa
Publicado 2023

Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients

por 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
Publicado 2021

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

por 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
Publicado 2022

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

por de la Morena-Barrio, Maria Eugenia, Suchon, Pierre, Jacobsen, Eva Marie, Iversen, Nina, Miñano, Antonia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Padilla, Jose, Cifuentes, Rosa, Asenjo, Susana, Deleuze, Jean François, Trégouët, David Alexandre, Lozano, Maria Luisa, Vicente, Vicente, Sandset, Per Morten, Morange, Pierre Emmanuel, Corral, Javier
Publicado 2022

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

por de la Morena-Barrio, Belén, Stephens, Jonathan, de la Morena-Barrio, María Eugenia, Stefanucci, Luca, Padilla, José, Miñano, Antonia, Gleadall, Nicholas, García, Juan Luis, López-Fernández, María Fernanda, Morange, Pierre-Emmanuel, Puurunen, Marja, Undas, Anetta, Vidal, Francisco, Raymond, Frances Lucy, Vicente, Vicente, Ouwehand, Willem H., Corral, Javier, Sanchis-Juan, Alba
Publicado 2022