Belén de la Morena Barrio-rekin lankidetzan egindako argitalpenak (25)

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

2023

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

    Haematologica

  2. 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

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

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

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

  2. 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

  3. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

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

  4. 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

  5. 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

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

    European Journal of Clinical Investigation

  2. 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

  3. 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

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

    Scientific Reports, Vol. 11, Núm. 1

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

  2. Genotype–phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo

    British Journal of Haematology

  3. When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista

    Medical Hypotheses, Vol. 141

2019

  1. Archeogenetics of F11 p.Cys38Arg: A 5400-year-old mutation identified in different southwestern European countries

    Blood