Search Results - "Matas‐Pérez, Elisabet"

The challenge of standardizing CAR‐T cell monitoring: A comparison of two flow‐cytometry methods and correlation with qPCR technique by Valdivieso‐Shephard, Juan Luis, Matas‐Pérez, Elisabet, García‐Bujalance, Silvia, Mirones‐Aguilar, Isabel, González‐Martínez, Berta, Pérez‐Martínez, Antonio, López‐Granados, Eduardo, Martínez‐Feito, Ana, Sánchez‐Zapardiel, Elena

“…Chimeric antigen receptor (CAR) T‐cell therapy is a breakthrough in hematologic malignancies, such as acute B lymphoblastic leukemia (B‐ALL). Monitoring this…”
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Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development by Bravo García-Morato, María, Padilla-Merlano, Beatriz, Matas Pérez, Elisabet, Valdivieso Shephard, Juan Luis, Robles Marhuenda, Ángel, Santos Simarro, Fernando, López-Granados, Eduardo, Rodríguez Pena, Rebeca

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Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature by Matas Pérez, Elisabet, Valdivieso Shephard, Juan Luis, Bravo García-Morato, María, Robles Marhuenda, Ángel, Martinez-Ojinaga Nodal, Eva, Prieto Bozano, Gerardo, González Casado, Isabel, Salamanca Fresno, Luis, Méndez Echevarria, Ana, del Rosal Rabes, Teresa, Allende Martínez, Luis, López-Granados, Eduardo, Rodríguez Pena, Rebeca

“…Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by variants in FAS-mediated apoptosis related genes and is characterized by…”
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Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection by Pérez, Elisabet Matas, Torbay, Andrea González, López, Mario Solis, Cámara, Ricardo Cuesta Martín, Jiménez, Carmen Rodríguez, Álvarez, Mari Ángeles Mori, Blanco, Julián Nevado, Gianelli, Carla, Hijón, Carmen Cámara, Granados, Eduardo López, Pena, Rebeca Rodríguez, Pozo Mate, Ángela, García‐Morato, María Bravo

“…Background Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense…”
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