Search Results - "Salvado, Ramon"

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles by Monteiro, Catarina, Gonçalves, Ana, Oliveira, Jorge, Salvado, Ramon, Tomaz, Jorge, Morais, Sara, Lima, Margarida, Santos, Rosário

“…Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital disorder characterized by the bilateral absence of the radius and thrombocytopenia, and…”
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Haemophilia A: health and economic burden of a rare disease in Portugal by Café, Andreia, Carvalho, Manuela, Crato, Miguel, Faria, Miguel, Kjollerstrom, Paula, Oliveira, Cristina, Pinto, Patrícia Jesus Ribeiro, Salvado, Ramón, Dos Santos, Alexandra Aires, Silva, Catarina

“…Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of…”
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Reticulated Platelets Quantification In An Automatic CBC Counter and Its Role In Thrombocytopenia Etiology Assessment by Simoes, Ana Teresa, Barreira, Rogério, Oliveira, Ana Cristina, Pinheiro, Ana Cristina, Ferreira, Patrícia, Duarte, Marta, Salvado, Ramón, Ribeiro, Maria Leticia, Santos, Susana Almeida

“…Abstract 4672 Reticulated platelets (rP) are young platelets, recently released from the bone marrow, and contain more cytoplasmic RNA elements than mature…”
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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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Importance of molecular thrombophilias diagnosis in pre-conceptional period and during pregnancy in risk women Portuguese experience in a tertiary hospital by Fonseca, Manuel, Rodrigues, Ângela, Pedrosa, Sofia, Mendes, Maria, Polónio, Maria, Rei, Ana, Godinho, Maria, Ramos, Lina, Salvado, Ramon, Barata, Carlos, Almeida, Maria do Céu

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Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study by Fidalgo, Teresa, Martinho, Patrícia, Salvado, Ramon, Manco, Licínio, Oliveira, Ana C., Pinto, Catarina S., Gonçalves, Elsa, Marques, Dalila, Sevivas, Teresa, Martins, Natália, Ribeiro, Maria Letícia

“…Introduction Inherited protein C (PC) deficiency is a well‐known risk factor for venous thrombosis (VT). Plasma PC levels are reliable in moderate to severe…”
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing by Fidalgo, Teresa, Martinho, Patrícia, Pinto, Catarina S., Oliveira, Ana C., Salvado, Ramon, Borràs, Nina, Coucelo, Margarida, Manco, Licínio, Maia, Tabita, Mendes, M. João, Del Orbe Barreto, Rafael, Corrales, Irene, Vidal, Francisco, Ribeiro, M. Letícia

“…Unlabelled Box The 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome…”
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Combined study of ADAMTS 13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing by Fidalgo, Teresa, Martinho, Patrícia, Pinto, Catarina S, Oliveira, Ana C, Salvado, Ramon, Borràs, Nina, Coucelo, Margarida, Manco, Licínio, Tabita Maia, M. João Mendes, Rafael Del Orbe Barreto, Corrales, Irene, Vidal, Francisco, Ribeiro, M Letícia

“…EssentialsThe differential diagnosis of acute thrombotic microangiopathy (TMA) is challenging.To the ADAMTS13 activity < or >10% was added a next‐generation…”
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Screening for ADAMTS13 Gene Mutations in Thrombotic Thrombocytopenic Purpura Reveals a New Deletional Mutation by Fidalgo, Teresa, Martinho, Patricia, Salvado, Ramon, Pinto, Catarina Silva, Marques, Dalila, Gonçalves, Elsa, Martins, Natalia, Ribeiro, Maria Leticia

“…Thrombotic Thrombocytopenic Purpura (TTP) is a rare severe thrombotic microangiopathy due to the presence of ultra large von Willebrand factor (UL-vWF)…”
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Severe intracranial haemorrhage in neonatal alloimmune thrombocytopenia by Silva, Francisco, Morais, Sofia, Sevivas, Teresa, Veiga, Ricardo, Salvado, Ramon, Taborda, Adelaide

“…Neonatal alloimmune thrombocytopenia is a rare (1/1000–5000 births) life-threatening disorder, caused by fetomaternal incompatibility for a fetal human…”
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Bone Marrow Specific Scatter Pattern on Multiple Myeloma and the M:E Ratio and Cellularity Analysed by the CELL-DYN 4000® Methodology by Simoes, Ana Teresa, Barreira, Rogerio FC, Pereira, Alexandra Alves, Cardeira, Sara, Sanches, Raquel, Costa, Carla Silva, Gonsalves, Ana Paula, Marques, Adilia, Santos, Susana, Salvado, Ramon, Duarte, Marta, Ribeiro, Maria Leticia

“…INTRODUCTION: Optical microscopy is the reference method for the morphological evaluation of bone marrow aspirates; however, in spite of permitting a good…”
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2º Congresso Hispano-Português de Medicina Transfusional e Terapia Celular; 2º Encontro Hispano-Luso Afro-Latino-Americano de Transfusão de Sangue; X Congresso Nacional da Associação Portuguesa de Imuno-hemoterapia (APIH); 28º Congresso da Sociedade Espanhola de Transfusão Sanguinea e Terapia Celular (SETS): Porto (Portugal), 1 a 3 de Junho 2017 by Juncal, Clara, Muñiz-Diaz, Eduardo, Nascimento, Fátima, Pina, Francisca, Sousa, Gracinda, Duran, José António, Gala, José Maria Garcia, Do Carmo Koch, Maria, Salvado, Ramon, Nunes, Robalo, Marco, Teresa Jiménez

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Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles by Monteiro, Catarina, Gonçalves, Ana, Oliveira, Jorge, Salvado, Ramon, Tomaz, Jorge, Morais, Sara, Lima, Margarida, Santos, Rosário

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Severe intracranial haemorrhage in neonatal alloimmune thrombocytopenia by Silva, Francisco, Morais, Sofia, Sevivas, Teresa, Veiga, Ricardo, Salvado, Ramon, Taborda, Adelaide

“…Neonatal alloimmune thrombocytopenia is a rare (1/1000–5000 births) life-threatening disorder, caused by fetomaternal incompatibility for a fetal human…”
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