Publications dans lesquelles il/elle collabore avec Mara Toderici (8)

2022

  1. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

    JCI Insight, Vol. 7, Núm. 19

2020

  1. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 8

2018

  1. Biochemical and cellular consequences of the antithrombin p.Met1? Mutation identified in a severe thrombophilic family

    Oncotarget, Vol. 9, Núm. 69, pp. 33202-33214

2017

  1. High levels of latent antithrombin in plasma from patients with antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 117, Núm. 5, pp. 880-888

  2. Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

    Scientific Reports, Vol. 7

2016

  1. Correction: Identification of regulatory mutations in SERPINC1 affecting vitamin D response elements associated with antithrombin deficiency

    PLoS ONE

  2. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

    Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 8, pp. 1549-1560

  3. Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

    PLoS ONE, Vol. 11, Núm. 3