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Emilia Fontanes

Explore the profile of Emilia Fontanes including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Perez-Rodriguez A, Batlle J, Pinto J, Corrales I, Borras N, Garcia-Martinez I, et al.
Haemophilia . 2021 Sep; 27(6):1007-1021. PMID: 34494337
Introduction: Type 2N von Willebrand disease (VWD) is characterized by a decreased affinity of von Willebrand factor (VWF) for factor VIII (FVIII). Abnormal binding of FVIII to VWF (VWF:FVIIIB), results...
2.
Borras N, Garcia-Martinez I, Batlle J, Perez-Rodriguez A, Parra R, Altisent C, et al.
Thromb Haemost . 2020 Mar; 120(3):437-448. PMID: 32135566
The clinical diagnosis of von Willebrand disease (VWD), particularly type 1, can be complex because several genetic and environmental factors affect von Willebrand factor (VWF) plasma levels. An estimated 60%...
3.
Borras N, Orriols G, Batlle J, Perez-Rodriguez A, Fidalgo T, Martinho P, et al.
Haematologica . 2018 Oct; 104(3):587-598. PMID: 30361419
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of...
4.
Perez-Rodriguez A, Batlle J, Corrales I, Borras N, Rodriguez-Trillo A, Loures E, et al.
PLoS One . 2018 Jun; 13(6):e0197876. PMID: 29924855
The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis of von Willebrand disease (VWD). This assay is a matter of controversy,...
5.
Ropero P, Gonzalez F, Cela E, Belendez C, Perez B, Seri C, et al.
Hemoglobin . 2012 Dec; 37(1):48-55. PMID: 23215953
We report a rare association of δβ-thalassemia (δβ-thal) and a hemoglobin (Hb) variant with high oxygen affinity in a Spanish newborn. The proband had no Hb A and showed microcytosis...