Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study

Authors: Bravo-Perez, Carlos, Blanco, Ana, Revilla, Nuria, Cobos, Jorge, Salgado-Parente, Alba, Asenjo, Susana, Méndez, Ramiro, Marti-Bonmati, Luis, Bonanad, Santiago, Albillos, José C., Castro, Nerea, Marcellini, Shally, López Sala, Paul, Lasa, Maialen, Bastida, José M., Infante, María S., Corral, Miguel A., Pagan, Javier, Llamas, Pilar, Rodríguez-Sevilla, Juan J., Rodríguez-Alen, Agustín, Sevivas, Teresa S., Morello, Daniela, García Villar, Cristina, Lojo, Sara, Marco, Ana, Simioni, Paolo, Vicente, Vicente, Lozano, María L., de la Morena-Barrio, María E., García-Santos, José M., Corral, Javier, Bravo-Pérez, Carlos ^*, Albillos, José C, Bastida, José M, Infante, María S, Corral, Miguel A, Rodríguez-Sevilla, Juan J, Sevivas, Teresa S, Villar, Cristina García, Lozano, María L, de la Morena-Barrio, María E, García-Santos, José M

Source: In The Lancet Haematology August 2024 11(8):e606-e616

A tower of babel of acronyms? The shadowlands of MGUS/MBL/CHIP/TCUS

Authors: Bravo-Perez, Carlos, Gurnari, Carmelo

Source: In Seminars in Hematology February 2024 61(1):43-50

Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing

Authors: 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

Source: In Journal of Thrombosis and Haemostasis July 2023 21(7):1779-1788

Single-cell analysis of aplastic anemia reveals a convergence of NK and NK-like CD8⁺ T cells with a disease-associated TCR signature.

Authors: Lundgren, Sofie, Huuhtanen, Jani, Keränen, Mikko, Feng, Xingmin, Patel, Bhavisha A., Ryland, Georgina L., Fox, Lucy C., Bravo-Perez, Carlos, Clemente, Michael, Kerr, Cassandra, Walldin, Gunilla, Dufva, Olli, Zaimoku, Yoshitaka, Tuononen, Tiina, Myllymäki, Mikko, Ebeling, Freja, Jokinen, Emmi, Heinonen, Markus, Kasanen, Tiina, Klievink, Jay

Source: Science Translational Medicine; 2/26/2025, Vol. 17 Issue 787, p1-17, 17p

Subject Terms: T cell receptors, APLASTIC anemia, HEMATOPOIETIC stem cells, T cells, CELL populations

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

Authors: 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 ^*

Source: In Blood 14 July 2022 140(2):140-151

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

Authors: 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

Source: In The Journal of Molecular Diagnostics May 2022 24(5):462-475

Non canonical c-CBLmutations define a specific phenotype of myeloid neoplasia

Authors: Guarnera, Luca, Gurnari, Carmelo, Bravo-Perez, Carlos, Durmaz, Arda, Williams, Nakisha D., Awada, Hussein, Kawashima, Naomi, Ahmed, Arooj, Unlu, Serhan, Ogbue, Olisaemeka D., Haddad, Christopher, Mandala, Aashray, Kubota, Yasuo, Bodo, Juraj, Crane, Genevieve M., Rogers, Heesun J., Maciejewski, Jaroslaw P., Visconte, Valeria

Source: Leukemia; March 2025, Vol. 39 Issue: 3 p748-751, 4p

Gynaecological and obstetrical bleeding in Caucasian women with congenital factor XI deficiency: Results from a twenty-year, retrospective, observational study

Alternate Title: Hemorragia ginecológica y obstétrica en mujeres caucásicas con deficiencia congénita de factor XI: Resultados de veinte años de registro observacional y retrospectivo (Spanish; Castilian)

Authors: Bravo-Perez, Carlos, Ródenas, Teresa, Esteban, Julio, de la Morena-Barrio, Maria Eugenia, Salloum-Asfar, Salam, de la Morena-Barrio, Belen, Miñano, Antonia, Vicente, Vicente, Corral, Javier

Source: In Medicina Clínica (English Edition) 29 November 2019 153(10):373-379

How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant

Authors: Bravo-Pérez, Carlos ^{1, ∗}, Corral, Javier ¹, Orlando, Christelle ², Ignjatovic, Vera ^{3, 4}, Ilonczai, Péter ⁵, Bereczky, Zsuzsanna ⁶

Source: In Journal of Thrombosis and Haemostasis January 2025

Landscape of biallelic DNMT3A mutant myeloid neoplasms.

Authors: 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

Source: Journal of Hematology & Oncology; 9/27/2024, Vol. 17 Issue 1, p1-6, 6p

Subject Terms: ACUTE myeloid leukemia, MYELOPROLIFERATIVE neoplasms, MYELODYSPLASTIC syndromes, GENE frequency, MULTIVARIATE analysis

KMT2A Rearrangements in Leukemias: Molecular Aspects and Therapeutic Perspectives.

Authors: Guarnera, Luca, D'Addona, Matteo, Bravo-Perez, Carlos, Visconte, Valeria

Source: International Journal of Molecular Sciences; Aug2024, Vol. 25 Issue 16, p9023, 11p

Subject Terms: HEMATOPOIETIC stem cell transplantation, REARRANGEMENTS (Chemistry), OVERALL survival, TREATMENT effectiveness, GENE mapping

Hemolytic versus malproductive anemia in large granular lymphocytic leukemia

Authors: Ogbue, Olisaemeka, Kewan, Tariq, Bravo-Perez, Carlos, Unlu, Serhan, Kawashima, Naomi, Williams, Nakisha D., Ahmed, Arooj, Guarnera, Luca, Gurnari, Carmelo, Visconte, Valeria, Maciejewski, Jaroslaw P.

Source: Leukemia; August 2024, Vol. 38 Issue: 8 p1839-1842, 4p

Non-canonical FLT3 alterations reveal novel germline FLT3 variants leading to somatic gene rescue mutations.

Authors: Gordon, Jaymeson, Bravo-Perez, Carlos, Guarnera, Luca, Unlu, Serhan, Kawashima, Naomi, Ahmed, Arooj, Haddad, Christopher, Kubota, Yasuo, Nautiyal, Ishani, Ullah, Fauzia, Dima, Danai, Williams, Nakisha D., Kewan, Tariq, Bahaj, Waled, Carraway, Hetty E., Yang, Chao-Yie, Gurnari, Carmelo, Visconte, Valeria, Maciejewski, Jaroslaw P.

Source: Blood Cancer Journal; 7/30/2024, Vol. 14 Issue 1, p1-4, 4p

Subject Terms: SOMATIC mutation, TRANSMEMBRANE domains, GAIN-of-function mutations, MYELOPROLIFERATIVE neoplasms, MYELODYSPLASTIC syndromes

The whole is greater than the sum of its parts: Long‐read sequencing for solving clinical problems in haematology.

Authors: 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

Source: Journal of Cellular & Molecular Medicine; Feb2024, Vol. 28 Issue 3, p1-5, 5p

Subject Terms: PROBLEM solving, HEMATOLOGY, PURE red cell aplasia, HEMATOPOIETIC stem cell transplantation

Congenital factor XI deficiency and risk of heart failure in humans

Authors: 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

Source: In Journal of Thrombosis and Haemostasis September 2023 21(9):2626-2629

Double hit B cell precursor leukemia/lymphoma in a patient with a prior diagnosis of follicular lymphoma: a diagnostic and therapeutic dilemma

Authors: Bravo-Perez, Carlos, Pajares, Inmaculada, Muiña, Begoña, Escobar, Hugo, Amigo, Ma Luz, Garcia-Malo, Ma Dolores, Garcia, Jonathan, Rodriguez-Pinilla, Socorro María, Piris, Miguel Angel, Ortuño, Francisco Jose

Source: Annals of hematology. 99(2):391-393

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125398330.0x000001&indx=1&recIds=ETOCvdc_100125398330.0x000001

Immunotherapy in Acute Myeloid Leukemia: A Literature Review of Emerging Strategies.

Authors: Guarnera, Luca^1,2 (AUTHOR) bravoc2@ccf.org, Bravo-Perez, Carlos^1,3 (AUTHOR) visconv@ccf.org, Visconte, Valeria¹ (AUTHOR)

Source: Bioengineering (Basel). Oct2023, Vol. 10 Issue 10, p1228. 22p.

Subject Terms: *ACUTE myeloid leukemia, *HEMATOPOIETIC stem cell transplantation, *PROGRAMMED cell death 1 receptors, *CD19 antigen, *HEMATOLOGIC malignancies, *CHIMERIC antigen receptors

Paroxysmal Nocturnal Hemoglobinuria: Biology and Treatment.

Authors: Bravo-Perez, Carlos, Guarnera, Luca, Williams, Nakisha D., Visconte, Valeria

Source: Medicina (1010660X); Sep2023, Vol. 59 Issue 9, p1612, 14p

Subject Terms: PAROXYSMAL hemoglobinuria, SOMATIC mutation, BIOLOGY, COMPLEMENT activation, SYMPTOMS, BONE marrow

CD56‐ and CD117‐positive neuroendocrine neoplasm presenting with leukemic phase and bone marrow infiltration mimicking acute leukemia

Authors: Bravo‐Perez, Carlos, García‐Torralba, Esmeralda, Lopez‐Poveda, María J., Ortuño, Francisco J.

Source: International journal of laboratory hematology. 43(4):536-537

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100137352310.0x000001&indx=1&recIds=ETOCvdc_100137352310.0x000001

Correction: Guarnera et al. KMT2A Rearrangements in Leukemias: Molecular Aspects and Therapeutic Perspectives. Int. J. Mol. Sci. 2024, 25 , 9023.

Authors: Guarnera, Luca, D'Addona, Matteo, Bravo-Perez, Carlos, Visconte, Valeria

Source: International Journal of Molecular Sciences; Nov2024, Vol. 25 Issue 21, p11743, 2p

Subject Terms: GENETIC correlations, GENE rearrangement, CENTRAL nervous system diseases, EXTRAMEDULLARY diseases, REARRANGEMENTS (Chemistry)