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Lorena Díaz-Ajenjo
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Journal Articles

Inherited Thrombocytopenias Predisposing to Hematologic Neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC)

Jose Maria Bastida, Ana Marín-Quílez, Ana Zamora, Maria Rocio Benito Sanchez, Agustín Rodriguez Alen, Teresa Sevivas, Pedro Luis Gómez-González, Lorena Díaz-Ajenjo, Nora Butta, Rosa M. Campos, Paola Escribano, Jorge Huertas-Aragoneses, Monica Lopez-Duarte, Antonio León, Angela Mompel, Raquel De Oña Navarrete, Irene Peláez-Pleguezuelos, Fernando Jesús Ramos-Ortega, Elena Sebastian, Claudia Serrano, Cristina Sierra-Aisa, Pablo Velasco, Laura Murillo, Rosa Vidal-Laso, Meritxell Nomdedeu, Jordi Esteve Reyner, Jesús María Hernández-Rivas, Jose Rivera Pozo, Maria Luisa Lozano
Journal: Blood
Blood (2023) 142 (Supplement 1): 1357.
https://doi.org/10.1182/blood-2023-180690
Published: 2023
Journal Articles

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, María Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José María Bastida
Journal: Blood
Blood (2023) 141 (4): 406–421.
https://doi.org/10.1182/blood.2022016995
Published: 2023
Includes: Supplemental data
Journal Articles

Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia

Ana Marín-Quílez, Elena Vuelta, Sandra Santos-Mínguez, Cristina Miguel-García, Pedro Ruíz-Sala, Veronica Palma-Barqueros, Lorena Díaz-Ajenjo, Inmaculada Serramito-Gómez, Maria Jesús Peñarrubia, Emilia Pardal, Daisy Castiñeiras-Ramos, José Ramón González-Porras, Jose Rivera, Rocio Benito, Jesus Maria Hernández-Rivas, Ignacio García-Tuñón, Jose Maria Bastida
Journal: Blood
Blood (2021) 138 (Supplement 1): 588.
https://doi.org/10.1182/blood-2021-150765
Published: 2021