selected publications
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chapter
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conference paper
- Desempenho de ferramentas in silico: Avaliação de variantes de mutações missense do gene UGT1A1 2016
- Ugt1a1 gene variants and total bilirubin levels in healthy subjects and in Gilbert syndrome patients 2012
- Prediction of deleterious nsSNPs in human UGT1A1 gene by web available algorithm tools 2011
- Variação inter-individual nos níveis de bilirrubina: o papel dos factores genéticos e adquiridos. Bioanálise. 2011
- Influence of genetic and aquired factors that modify serum bilirubin levels in the portuguese population 2010
- UGT1A1 gene variations in individuals with and without clinical diagnosis of Gilbert Syndrome 2010
- Contribution of red cell mass and UGT1A1 alleles in serum bilirubin levels of the portuguese population. Molecular Genetics and Metabolism. 132-132. 2009
- Genetic and acquired factors that modulate serum bilirubin levels 2009
- Factores genéticos e ambientais que afectam os níveis séricos de bilirrubina na população portuguesa. Bioanálise. 26-27. 2008
- Haemorheological changes during recombinante human erythropoietin therapy in a rat model of renal failure induced by partial nephrectomy 2008
- Higher fibrinolytic and inflammatory markers are associated with central venous catheters use in chronic kidney disease patients under haemodialysis 2008
- Interference of environmental factors in serum bilirubin levels - a preliminary study 2008
- T-cell phenotype and inflammation in chronic kidney disease patients under haemodialysis and its relationship to resistance to rhEPO therapy 2008
- Altered erythrocyte membrane band 3 profile in chronic renal failure patients under haemodialysis 2007
- Band 3 as a marker of erythrocyte changes in chronic renal failure 2007
- Fibrinolytic activity and vascular access inchronic renal failure patients under haemodialysis 2007
- Fibrinolytic in chronic renal failure patients under haemodialysis and its retionship to recombinant human erythrpoietin resistance 2007
- Molecular study of portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome 2007
- Neuthrophil activation markers in chronic renal failure patients under haemodialysis and recombinant human erythropoietin 2007
- Co-existance of congenital red cell pyruvate kinase and band 3 deficiency. Blood. 2003
- Determination of neutrophil FC receptor IIIB antigens (HNA-1A, HNA-1B AND HNA1C) by ploymerase chain reaction with sequence-specific fluorochrome-labeled primers. Blood. 2003
- Banda 3 profile as a marker of oxidative stress in hereditary spherocytosis. Blood. 1998
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document
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journal article
- A Microfluidic Deformability Assessment of Pathological Red Blood Cells Flowing in a Hyperbolic Converging Microchannel. Micromachines. 645. 2019
- Performance of in silico tools for the evaluation of UGT1A1 missense variants. Human Mutation. 1215-1225. 2015
- Bilirubin levels and redox status in a young healthy population. Acta Haematologica. 57-60. 2013
- Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. Blood Cells, Molecules and Diseases. 166-172. 2012
- Bilirubin dependent on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index. American Journal of the Medical Sciences. 2011
- Variação inter-individual nos níveis de bilirrubina: o papel dos factores genéticos e adquiridos. Bioanálise. 5-13. 2011
- Agentes etiológicos e contaminantes em hemoculturas 2008
- Hematologically important mutations: Shwachman–Diamond syndrome. Blood Cells, Molecules and Diseases. 2008
- IL-7 serum levels and lymphopenia in hemodialysis patients, non-responders to recombinant human erythropoietin therapy. Blood Cells, Molecules and Diseases. 2008
- Inflammation, T-Cell phenotype, and inflammatory cytokines in chronic kidney disease patients under hemodialysis and its relationship to resistance to recombinant human erythropoietin therapy. Journal of Clinical Immunology. 2008
- Índices plaquetários em doentes infectados com o vírus da imunodeficiência humana e com trombocitopeniaÍndices plaquetários em doentes infectados com o vírus da imunodeficiência humana e com trombocitopenia 2008
- Desempenho das funções dos técnicos coordenadores de análises Clínicas e saúde pública das sub-regiões de saúde do norte. Bioanálise. 2007
- Etiologia das infecções do tracto urinário e sua susceptibilidade aos antimicrobianos. Acta Medica Portuguesa. 2007
- Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. Blood Cells, Molecules and Diseases. 2007
- Pesquisa de Giardia lamblia em humanos e bovinos na região de Bragança. 67-69. 2007
- Platelet indices in chronic alcoholic liver disease patients with thrombocytopenia. Arquivos de Gastroenterologia. 2007
- Administração profiláctica de plasma no síndrome hemolítico urémico atípico recorrente 2006
- Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes. Blood Cells, Molecules and Diseases. 2006
- Incidência de anemia ferripriva numa população pediátrica detectada na rotina pré-operatória. Bioanálise. 2006
- Erythropoietin levels in the different clinical forms of hereditary spherocytosis. British Journal of Haematology. 2005
- Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.. Blood Cells, Molecules and Diseases. 2005
- Molecular characterization of a portuguese patient with Shwachman-Diamond syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2005
- Múltiples factores de riesgo trombofílicos identificados en lactante con accidente vascular cerebral 2005
- Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis. European Journal of Haematology. 2005
- The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome.. Clinical Chemistry. 2005
- A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome. Pediatric Hematology and Oncology. 2004
- Coexistence of congenital red cell pyruvate kinase and band 3 deficiency 2004
- Crise aplástica como forma de apresentação de anemia hemolítica hereditária. Acta Pediátrica Portuguesa. 2004
- Determination of neutrophil Fcc receptor IIIb antigens (HNA-1a, HNA-1b and HNA-1c) by fluorescence-primed allele-specific polymerase chain reaction 2004
- Inherited and acquired risk factors and their combined effects in pediatric stroke. Pediatric Neurology. 2003
- Macrotrombocitopenia isolada crónica hereditária - estudo de uma família Portuguesa. Acta Pediátrica Portuguesa. 2003
- Pentanucleotide repeat (TTTTA)n polymorphism in the 5' control region of the apoliprotein (A) gene and atherothrombotic serum lipoprotein (A) concentration, in a pediatric population. Haematologica. 2003
- Utilização de unidades de concentrado eritrocitário com sacos satélite na redução de exposição a dadores em recém-nascidos e lactentes politransfundidos intensivamente 2003
- Défice de glicose-6-fosfato desidrogenase, ictericia nenatal e Sindroma de Gilbert. Acta Medica Portuguesa. 2002
- Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease 2002
- TATA-box polymorphism in the urine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of gilbert syndrome. Haematologica. 2002
- A case of transplacental transmission of EDTA-dependent pseudothrombocytopenia. Prenatal and Neonatal Medicine. 2001
- Prothrombotic study in full term neonates with arterial stroke. Haematologica. 2001
- Review of the pre-operative evaluation of hemostasis in 2839 children 2001
- Ten years of prophylactic treatment with fresh-frozen plasma in a child with chronic relapsing thrombotic thrombocytopenic purpura as a result of a congenital deficiency of von Willebrand factor-cleaving protease. British Journal of Haematology. 2001
- Trombocitopenia e ausência de radio (sindrome TAR): caso clínico. Acta Pediátrica Portuguesa. 2001
- Anemia de Fanconi - variabilidade fenotípica da doença em duas irmâs. Acta Pediátrica Portuguesa. 2000
- Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. Blood. 2000
- Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. European Journal of Pediatrics. 2000
- Hydrops fetalis não imune por anemia grave: a proposito de três casos clínicos. Acta Pediátrica Portuguesa. 2000
- Brain stem ischemia in a boy with resistance to C activated protein and raised lipoprotein (A) 1999
- Défice de glicose-6-fosfato desidrogenase em duas crianças do sexo feminino. Acta Medica Portuguesa. 1999
- Défice de glicose-6-fosfato desidrogenase em 10 familias residentes no norte de Portugal. Arquivos de Medicina. 1997