P1644: NOVEL VARIANTS IN GALE CAUSED SYNDROMIC MACROTHROMBOCYTOPENIA DISRUPTING THROMBOPOIESIS AND GLYCOSYLATION
Marin Quilez, A., Di Buduo, C. A., Díaz‐Ajenjo, L., Soprano, P. M., Vuelta, E., Serramito‐Gómez, I., Santos‐Mínguez, S., Miguel‐García, C., Tocino‐Antonio, S., Palma‐Barqueros, V., Zamora‐Canovas, A., Ruiz‐Sala, P., Peñarrubia, M. J., Pardal, E., Hernández‐Rivas, J. M., González‐Porras, J. R., Benito, R., Rivera, J., García‐Tuñón, I., Balduini, A., Bastida, J. M.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
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Journal Article
A New Molecular Variant in the PTGS1 Gene That Abrogates Generation of Thromboxane A2 Synthesis and Associates with Platelet Dysfunction and Bleeding
Palma-Barqueros, Veronica, Chan, Melissa, Crescente, Marilena, Bastida, Jose Maria, Almarza, Elena, Suarez Varela, Sara, Mesa-Núñez, Cristina, Casas-Avilés, Ignacio, Bohdan, Natalia, Ruiz-Pividal, Jf, Padilla, Jose, Revilla Calvo, Nuria, Marín-Quilez, A, Martín Izquierdo, Marta, Benito, Rocio, Vicente, Vicente, Bueren, Juan A., Hernández-Rivas, Jesus Maria, González-Porras, José Ramón, Edin, ML, Zelding, DC, Warner, Tim, Rivera, Jose, Lozano, Maria Luisa
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Strategies for Analysis of Novel Molecular Variants in the RUNX1 Gene As a Cause of Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML)
Palma-Barqueros, Veronica, Ruiz-Pividal, Jf, Bastida, Jose Maria, Bohdan, Natalia, Lopez-Andreu, MJ, Teruel-Montoya, Raul, Antón, Ana Isabel, Ferrer Marin, Francisca, Padilla, Jose, Cifuentes-Riquelme, Rosa, Marín-Quilez, A, Martín Izquierdo, Marta, Benito, Rocio, Vicente, Vicente, Hernández-Rivas, Jesus Maria, González-Porras, José Ramón, Rivera, Jose, Lozano, Maria Luisa
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Journal Article
PB0525 Identification of an Aberrant Cell Population in a Knock-in Murine Model with RUNX1 Variant Generated by CRISPR/Cas9
Marin-Quilez, A., García-Tuñón, I., Ordoñez, J., Del Rey, M., Sanz, D., Díaz-Ajenjo, L., Guerrero, C., Pérez-Losada, J., Gonzalez Porras, J., Hernández-Rivas, J., Benito, R., Rivera, J., Bastida, J.
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
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Journal Article
OC 65.3 Longread Nanopore Sequencing Reveal Novel Structural Variants in ITGB3, HPS5 and HPS3, Allowing Genetic Diagnosis of Glanzmann’s Thrombasthenia and Hermansky-Pudlak Syndrome in Four Unrelated Patients
Marin-Quilez, A., Zamora-Cánovas, A., de la morena-Barrio, B., Sierra Aisa, C., Male, C., Padilla, J., Fernández-Mosteirín, N., Trapero-Marugán, M., Gómez-González, P., de la Morena-Barrio, M., Sánchez-Fuentes, A., Rodríguez-Alén, A., Revilla, N., Benito, R., Bastida, J., Lozano, M., Corral, J., Rivera, J.
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
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Journal Article
PF170 ETV6/RUNX1 FUSION GENE ABROGATION DECREASE THE ONCOGENIC POTENCIAL OF TUMORS CELLS IN A PRECLINICAL MODEL OF ACUTE LYMPHOBLASTIC LEUKEMIA
Montaño, A., Ordóñez, J.L., Alonso‐Pérez, V., Marín‐Quílez, A., Pérez‐Carretero, C., Benito, R., García‐Tuñón, I., Hernández‐Rivas, J.M.
Published in HemaSphere (01.06.2019)
Published in HemaSphere (01.06.2019)
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