Search Results - "Diniz, MJ"

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS by Fidalgo, Teresa, Salvado, Ramon, Corrales, Irene, Pinto, Silva Catarina, Borràs, Nina, Oliveira, Ana, Martinho, Patricia, Ferreira, Gisela, Almeida, Helena, Oliveira, Cristina, Marques, Dalila, Gonçalves, Elsa, Diniz, MJoão, Antunes, Margarida, Tavares, Alice, Caetano, Gonçalo, Kjöllerström, Paula, Maia, Raquel, Sevivas, Teresa S, Vidal, Francisco, Ribeiro, Leticia

“…The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous…”
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Immune tolerance induction in patients with haemophilia a and inhibitors: effectiveness and cost analysis in an European Cohort (The ITER Study) by Rocino, A., Cortesi, P. A., Scalone, L., Mantovani, L. G., Crea, R., Gringeri, A.

“…Introduction Although immune tolerance induction (ITI) is considered the first choice treatment to eradicate inhibitors in haemophilia A patients, little is…”
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The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients by David, D, Ventura, C, Moreira, I, Diniz, MJ, Antunes, M, Tavares, A, Araujo, F, Morais, S, Campos, M, Lavinha, J, Kemball-Cook, G

“…Centro de Genetica Humana, Instituto Nacional de Saude, Lisboa, Portugal. dezso.david@insa.min-saude.pt Disease-causing alterations within the F8 gene were…”
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Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B by David, D, Rosa, H A, Pemberton, S, Diniz, M J, Campos, M, Lavinha, J

“…In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of…”
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