All Stories

  1. Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

    Article • Haematologica, October 2018, Ferrata Storti Foundation (Haematologica)

    Dr Teresa Fidalgo

  2. (SNPs) in genes ABO, F11 and FGG associated to VTE

    Article • Blood Coagulation & Fibrinolysis, July 2018, Wolters Kluwer Health

    Dr Teresa Fidalgo

  3. Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

    Article • CEN Case Reports, January 2018, Springer Science + Business Media

    Dr Teresa Fidalgo

  4. Combined study of ADAMTS13 and complement genes in the diagnosis of TMA's using NGS

    Article • Research and Practice in Thrombosis and Haemostasis, June 2017, Wiley

    Dr Teresa Fidalgo

  5. Acquired von Willebrand– how the clinical-laboratory correlation improves a challenging diagnosis

    Article • Haemophilia, May 2017, Wiley

    Dr Teresa Fidalgo

  6. VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients

    Article • Haemophilia, January 2017, Wiley

    Dr Teresa Fidalgo

  7. In this report, we discuss the case of aHUS with a C3 mutation and an uncommon presentation.

    Article • Open Access Journal of Urology & Nephrology, January 2017, Medwin Publishers

    Dr Teresa Fidalgo

  8. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing

    Article • International Journal of Laboratory Hematology, July 2016, Wiley

    Dr Teresa Fidalgo, Maria-Isabel Tejada

  9. Genotype–phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS

    Article • Thrombosis and Haemostasis, March 2016, Schattauer GmbH

    Dr Teresa Fidalgo

  10. New combinedCFH/MCPmutations and a rare clinical course in atypical haemolytic uraemic syndrome: Table 1.

    Article • Clinical Kidney Journal, October 2015, Oxford University Press (OUP)

    Dr Teresa Fidalgo

  11. Familial thrombotic risk based on the genetic background of Protein C Deficiency

    Article • European Journal Of Haematology, March 2015, Wiley

    Dr Teresa Fidalgo

  12. JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients

    Article • International Journal of Hematology, November 2013, Springer Science + Business Media

    Dr Teresa Fidalgo

  13. Molecular diagnosis of haemophilia A at C.Hospitalar de Coimbra in Portugal: study of 103 families

    Article • Haemophilia, June 2011, Wiley

    Dr Teresa Fidalgo