Works by Martínez‐Delgado, Beatriz

Results: 18
    1

    Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599
    By:
    • Cordovado, Amélie;
    • Hérenger, Yvan;
    • Cormier, Coline;
    • López-Martín, Estrella;
    • Stamberger, Hannah;
    • Faivre, Laurence;
    • Denommé-Pichon, Anne-Sophie;
    • Vitobello, Antonio;
    • Abdallah, Hamza Hadj;
    • Barcia, Giulia;
    • Courtin, Thomas;
    • Martínez-Delgado, Beatriz;
    • Bermejo-Sánchez, Eva;
    • Barrero, María J.;
    • Gasser, Brooklynn;
    • Bezieau, Stéphane;
    • Küry, Sébastien;
    • Weckhuysen, Sarah;
    • Laumonnier, Frédéric;
    • Toutain, Annick
    Publication type:
    Article
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    5

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

    Published in:
    2020
    By:
    • Urreizti, Roser;
    • Lopez-Martin, Estrella;
    • Martinez-Monseny, Antonio;
    • Pujadas, Montse;
    • Castilla-Vallmanya, Laura;
    • Pérez-Jurado, Luis Alberto;
    • Serrano, Mercedes;
    • Natera-de Benito, Daniel;
    • Martínez-Delgado, Beatriz;
    • Posada-de-la-Paz, Manuel;
    • Alonso, Javier;
    • Marin-Reina, Purificación;
    • O'Callaghan, Mar;
    • Grinberg, Daniel;
    • Bermejo-Sánchez, Eva;
    • Balcells, Susanna
    Publication type:
    journal article
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    Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
    By:
    • Komulainen‐Ebrahim, Jonna;
    • Kangas, Salla M.;
    • López‐Martín, Estrella;
    • Feyma, Timothy;
    • Scaglia, Fernando;
    • Martínez‐Delgado, Beatriz;
    • Kuismin, Outi;
    • Suo‐Palosaari, Maria;
    • Carr, Lucinda;
    • Hinttala, Reetta;
    • Kurian, Manju A.;
    • Uusimaa, Johanna
    Publication type:
    Article
    9
    10

    Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12472, doi. 10.3390/ijms241512472
    By:
    • Pérez-Luz, Sara;
    • Lalchandani, Jaanam;
    • Matamala, Nerea;
    • Barrero, Maria Jose;
    • Gil-Martín, Sara;
    • Saz, Sheila Ramos-Del;
    • Varona, Sarai;
    • Monzón, Sara;
    • Cuesta, Isabel;
    • Justo, Iago;
    • Marcacuzco, Alberto;
    • Hierro, Loreto;
    • Garfia, Cristina;
    • Gomez-Mariano, Gema;
    • Janciauskiene, Sabina;
    • Martínez-Delgado, Beatriz
    Publication type:
    Article
    11
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    SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

    Published in:
    International Journal of Environmental Research & Public Health, 2018, v. 15, n. 8, p. 1746, doi. 10.3390/ijerph15081746
    By:
    • López-Martín, Estrella;
    • Martínez-Delgado, Beatriz;
    • Bermejo-Sánchez, Eva;
    • Alonso, Javier;
    • Posada, Manuel
    Publication type:
    Article
    14
    15

    Tumor MicroRNA Expression Profiling Identifies Circulating MicroRNAs for Early Breast Cancer Detection.

    Published in:
    Clinical Chemistry, 2015, v. 61, n. 8, p. 1098, doi. 10.1373/clinchem.2015.238691
    By:
    • Matamala, Nerea;
    • Vargas, María Teresa;
    • González-Cámpora, Ricardo;
    • Miñambres, Rebeca;
    • Ignacio Arias, José;
    • Menéndez, Primitiva;
    • Andrés-León, Eduardo;
    • Gómez-López, Gonzalo;
    • Yanowsky, Kira;
    • Calvete-Candenas, Julio;
    • Inglada-Pérez, Lucía;
    • Martínez-Delgado, Beatriz;
    • Benítez, Javier
    Publication type:
    Article
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