Publicaciones en las que colabora con Javier Corral De La Calle (182)

2024

  1. The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology

    Journal of Cellular and Molecular Medicine, Vol. 28, Núm. 3

2023

  1. Congenital factor XI deficiency and risk of heart failure in humans

    Journal of Thrombosis and Haemostasis

  2. Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  3. Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 7, pp. 1779-1788

  4. Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency

    International Journal of Molecular Sciences, Vol. 24, Núm. 5

2022

  1. Contact pathway in surgical and transcatheter aortic valve replacement

    Frontiers in Cardiovascular Medicine, Vol. 9

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

    JCI Insight, Vol. 7, Núm. 19

  3. Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

    Thrombosis and Haemostasis, Vol. 122, Núm. 8, pp. 1369-1378

  4. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

    Journal of Molecular Diagnostics, Vol. 24, Núm. 5, pp. 462-475

  5. Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia

    American Journal of Hematology, Vol. 97, Núm. 2, pp. 216-225

  6. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

    Blood, Vol. 140, Núm. 2, pp. 140-151

2021

  1. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis

    American Journal of Hematology

  2. A pilot study on the impact of congenital thrombophilia in COVID-19

    European Journal of Clinical Investigation

  3. Anticoagulant therapy in patients with congenital FXI deficiency

    Blood Advances, Vol. 5, Núm. 20, pp. 4083-4086

  4. Antithrombin pThr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency

    Thrombosis and Haemostasis, Vol. 121, Núm. 2, pp. 182-191

  5. High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

    American Journal of Hematology, Vol. 96, Núm. 11, pp. 1363-1373

  6. N-glycosylation as a tool to study antithrombin secretion, conformation, and function

    International Journal of Molecular Sciences, Vol. 22, Núm. 2, pp. 1-12

  7. Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients

    Scientific Reports, Vol. 11, Núm. 1

  8. Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant

    Clinical Reviews in Allergy and Immunology, Vol. 60, Núm. 3, pp. 357-368

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