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Your search keyword '"Marín-Quílez, Ana"' showing total 4 results
Start Over Author "Marín-Quílez, Ana" Journal journal of thrombosis and haemostasis
4 results on '"Marín-Quílez, Ana"'

1. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders

Author

Zamora-Cánovas, Ana, de la Morena-Barrio, Belén, Marín-Quilez, Ana, Sierra-Aisa, Cristina, Male, Christoph, Fernández-Mosteirin, Nuria, Trapero-Marugán, María, Padilla, José, Garrido-Rodriguez, Pedro, Sánchez-Fuentes, Ana, Rodríguez-Alen, Agustín, Gómez-González, Pedro Luis, Revilla, Nuria, de la Morena-Barrio, María Eugenia, Bastida, José María, Corral, Javier, Rivera, José, and Lozano, María L.

Published
2024
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2. Platelet transcriptome analysis in patients with germline RUNX1 mutations

Author

Palma-Barqueros, Verónica, Bastida, José María, López Andreo, María José, Zámora-Cánovas, Ana, Zaninetti, Carlo, Ruiz-Pividal, Juan Francisco, Bohdan, Natalia, Padilla, José, Teruel-Montoya, Raúl, Marín-Quilez, Ana, Revilla, Nuria, Sánchez-Fuentes, Ana, Rodriguez-Alen, Agustín, Benito, Rocío, Vicente, Vicente, Iturbe, Teodoro, Greinacher, Andreas, Lozano, María Luisa, and Rivera, José

Published
2023
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3. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

Author

Marín‐Quílez, Ana, primary, Vuelta, Elena, additional, Díaz‐Ajenjo, Lorena, additional, Fernández‐Infante, Cristina, additional, García‐Tuñón, Ignacio, additional, Benito, Rocío, additional, Palma‐Barqueros, Verónica, additional, Hernández‐Rivas, Jesús María, additional, González‐Porras, José Ramón, additional, Rivera, José, additional, and Bastida, José María, additional

Published
2022
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4. A novel nonsense variant in TPM4caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

Author

Marín‐Quílez, Ana, Vuelta, Elena, Díaz‐Ajenjo, Lorena, Fernández‐Infante, Cristina, García‐Tuñón, Ignacio, Benito, Rocío, Palma‐Barqueros, Verónica, Hernández‐Rivas, Jesús María, González‐Porras, José Ramón, Rivera, José, and Bastida, José María

Abstract

Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants.

Published
2022
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