High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome
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
Published in American journal of hematology (01.11.2021)
Published in American journal of hematology (01.11.2021)
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Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency
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
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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A pilot study on the impact of congenital thrombophilia in COVID‐19
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
Published in European Journal of Clinical Investigation (01.05.2021)
Published in European Journal of Clinical Investigation (01.05.2021)
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Cancer testis antigens in myelodysplastic syndromes revisited: a targeted RNA-seq approach
Hurtado López, Ana María, Chen-Liang, Tzu Hua, Zurdo, María, Carrillo-Tornel, Salvador, Panadero, Joaquín, Salido, Eduardo José, Beltrán, Victor, Muiña, Begoña, Amigo, MariLuz, Navarro-Villamor, Noelia, Cifuentes, Rosa, Calabria, Inés, Antón, Ana Isabel, Teruel, Raúl, Muro, Manuel, Vicente, Vicente, Jerez, Andrés
Published in Oncoimmunology (01.01.2020)
Published in Oncoimmunology (01.01.2020)
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Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins
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
Published in PloS one (05.07.2024)
Published in PloS one (05.07.2024)
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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect
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
Published in JCI insight (10.10.2022)
Published in JCI insight (10.10.2022)
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The whole is greater than the sum of its parts: Long‐read sequencing for solving clinical problems in haematology
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
Published in Journal of cellular and molecular medicine (01.02.2024)
Published in Journal of cellular and molecular medicine (01.02.2024)
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Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
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
Published in Blood (14.07.2022)
Published in Blood (14.07.2022)
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Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing
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
Published in Journal of thrombosis and haemostasis (01.07.2023)
Published in Journal of thrombosis and haemostasis (01.07.2023)
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Journal Article
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia
Bravo‐Pérez, Carlos, Morena‐Barrio, María Eugenia, Morena‐Barrio, Belén, Miñano, Antonia, Padilla, José, Cifuentes, Rosa, Garrido, Pedro, Vicente, Vicente, Corral, Javier
Published in American journal of hematology (01.02.2022)
Published in American journal of hematology (01.02.2022)
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Journal Article
Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency
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
Published in The Journal of molecular diagnostics : JMD (01.05.2022)
Published in The Journal of molecular diagnostics : JMD (01.05.2022)
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La discrecionalidad técnica en la aplicación de sanciones ambientales sus límites y su control judicial: Una aproximación desde la metodología incorporada en el Decreto 3678 de 2010
Vargas Ossa, Nataly, Carvajal García, Astrid Eugenia, González Cifuentes, Rosa María
Published in El ágora USB (19.12.2023)
Published in El ágora USB (19.12.2023)
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La discrecionalidad técnica en la aplicación de sanciones ambientales sus límites y su control judicial: Una aproximación desde la metodología incorporada en el Decreto 3678 de 2010 /Technical Discretion in the Application of Environmental Sanctions, its Limits and Judicial Control: An Approach based on the Methodology Incorporated in Decree 3678 of 2010
Ossa, Nataly Vargas, García, Astrid Eugenia Carvajal, Cifuentes, Rosa María González
Published in El ágora USB (01.07.2023)
Published in El ágora USB (01.07.2023)
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La falla Tamazula -límite suroriental del bloque Jalisco y sus relaciones con el complejo volcánico de Colima, México
Uribe Cifuentes, Rosa María, Saucedo Girón, Ricardo, Jiménez, Zenón, Garduño Monroy, Víctor Hugo, Gavilanes Ruiz, Juan Carlos, Cortés Cortés, Abel
Published in Revista mexicana de ciencias geológicas (1998)
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Published in Revista mexicana de ciencias geológicas (1998)
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