Argitalpenak (80) Maria Eugenia De La Morena Barrio argitalpenak

2024

  1. Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

    PLoS ONE, Vol. 19, Núm. 7 JULY

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

    Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859

  3. 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

  4. Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study

    The Lancet Haematology, Vol. 11, Núm. 8, pp. e606-e616

2023

  1. Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype

    Thrombosis and haemostasis, Vol. 123, Núm. 9, pp. 880-891

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

    Journal of Thrombosis and Haemostasis

  3. 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

  4. Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

    Haematologica

  5. 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

  6. Scalable production of tissue-like vascularized liver organoids from human PSCs

    Experimental and Molecular Medicine, Vol. 55, Núm. 9, pp. 2005-2024

  7. 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. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies

    Glycobiology, Vol. 32, Núm. 2, pp. 84-100

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

    JCI Insight, Vol. 7, Núm. 19

  4. 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

  5. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

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

  6. 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

  7. New SERPINC1 gene mutations in patients with antithrombin deficiency: Antithrombin Lodz I, II, III, and IV

    Polish Archives of Internal Medicine, Vol. 132, Núm. 1

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

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

  9. Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon

    IEEE Journal of Biomedical and Health Informatics, Vol. 26, Núm. 11, pp. 5750-5756