Search Results - "Cabeda, JM"

HFE mutations in patients with hereditary haemochromatosis in Sweden by CARDOSO, E. M. P, STAL, P, HAGEN, K, CABEDA, J. M, ESIN, S, DE SOUSA, M, HULTCRANTZ, R

“…Cardoso EMP, Stål P, Hagen K, Cabeda JM, Esin S, De Sousa M, Hultcrantz R (Karolinska Hospital, Stockholm; Huddinge University Hospital, Huddinge; and…”
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Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany by NIELSEN, P, CARPINTEIRO, S, FISCHER, R, CABEDA, J. M, PORTO, G, GABBE, E. E

“…Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients…”
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Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis by Rocha, S., Rebelo, I., Costa, E., Catarino, C., Belo, L., Castro, E. M. B., Cabeda, J. M., Barbot, J., Quintanilha, A., Santos-Silva, A.

“…:  Vertical and horizontal interactions between membrane constituents account for integrity, strength and deformability of the erythrocyte. Disruption of…”
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Relative impact of HLA phenotype and CD4-CD8 ratios on the clinical expression of hemochromatosis by Porto, G, Vicente, C, Teixeira, MA, Martins, O, Cabeda, JM, Lacerda, R, Gonçalves, C, Fraga, J, Macedo, G, Silva, BM, Alves, H, Justiça, B, de Sousa, M

“…Hemochromatosis is a hereditary iron-overload disease linked to HLA. The clinical expression of hemochromatosis is influenced by sex and age. However, other…”
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Relative impact of HLA phenotype and CD4‐CD8 ratios on the clinical expression of hemochromatosis by Porto, G, Vicente, C, Teixeira, M A, Martins, O, Cabeda, J M, Lacerda, R, Gonçalves, C, Fraga, J, Macedo, G, Silva, B M, Alves, H, Justiça, B, de Sousa, M

“…Hemochromatosis is a hereditary iron‐overload disease linked to HLA. The clinical expression of hemochromatosis is influenced by sex and age. However, other…”
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Clonal and antibiotic resistance profiles of methicillin-resistant Staphylococcus aureus (MRSA) from a Portuguese hospital over time by Amorim, M L, Aires de Sousa, M, Sanches, I Santos, Sá-Leão, R, Cabeda, J M, Amorim, J M, de Lencastre, H

“…Methicillin-resistant Staphylococcus aureus (MRSA) isolates recovered from a general hospital in Oporto, Portugal, during two periods (1992-1993 and 1996-2000)…”
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Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis by Porto, G, Alves, H, Rodrigues, P, Cabeda, J M, Portal, C, Ruivo, A, Justiça, B, Wolff, R, De Sousa, M

“…The present study is an analysis of the frequencies of HFE mutations in patients with different forms of iron overload compared with the frequencies found in…”
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Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia by Costa, Elı́sio, Cabeda, José Manuel, Vieira, Emilia, Pinto, Rui, Pereira, Susana Aires, Ferraz, Leonor, Santos, Rosário, Barbot, José

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the…”
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CMV infection of liver transplant recipients: comparison of antigenemia and molecular biology assays by Amorim, M L, Cabeda, J M, Seca, R, Mendes, A C, Castro, A P, Amorim, J M

“…CMV is a major clinical problem in transplant recipients. Thus, it is important to use sensitive and specific diagnostic techniques to rapidly and accurately…”
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Unexpected pattern of β-globin mutations in β-thalassaemia patients from northern Portugal by CABEDA, J. M, CORREIA, C, ESTEVINBO, A, SIMÖES, C, AMORIM, M. L, PINHO, L, JUSTICA, B

“…We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one…”
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Coexistence of congenital red cell pyruvate kinase and band 3 deficiency by Branca, R., Costa, E., Rocha, S., Coelho, H., Quintanilha, A., Cabeda, J. M., Santos‐Silva, A., Barbot, J.

“…Summary The authors report the case of a 9‐year‐old Caucasian girl, born in northern Portugal, with chronic nonspherocytic haemolytic anaemia and without…”
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Detection of herpesvirus infection of the CNS: the experience of hospital Geral de Santo António by Cabeda, José Manuel, Castro, Ana Paula, Amorim, Maria Luı́s, Mendes, Ana Constança, Monteiro, Luı́s, Amorim, José Manuel

“…Background: PCR detection of CSF Herpes virus DNA is an important tool in the diagnosis of CNS infections. Use of this test has been shown to have an impact on…”
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Assessment of three rapid methods for the detection of methicillin-resistant Staphylococcus aureus by João Soares, Maria, Soares, Carlos, Constança Mendes, Ana, Luís Guimarães, Maria, Manuel Cabeda, José, Manuel Amorima, José

“…We evaluated three rapid methods to detect methicillin-resistant Staphylococcus aureus (MRSA) and compared them with PCR amplification of mecA. A total of 103…”
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MHC class-I associations in iron overload: new link between the H63D mutation, HLA-A29 and “non-classical” haemochromatosis by Porto, G, Alves, H, Rodrigues, P, Cabeda, JM, Portal, C, Ruivo, A, Justiça, B, Wolff, R, De Sousa, M

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Advances in the genotyping of thrombosis genetic risk factors: clinical and laboratory implications by Cabeda, José Manuel, Pereira, Mónica, Oliveira, José Miguel, Estevinho, Alexandra, Pereira, Irene, Morais, Sara, Justiça, Benvindo, Campos, Manuel

“…Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk…”
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Pure red cell aplasia associated to clonal CD8+ T-cell large granular lymphocytosis: dependence on cyclosporin A therapy by Coutinho, J, Lima, M, dos Anjos Teixeira, M, Cabeda, J M, Leite, F, Justiça, B

“…This case report details a single patient with pure red cell aplasia (PRCA) associated with clonal CD3+, TCRalphabeta+, TCR-Vbeta8+, CD8+, CD57+ large granular…”
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Glucose-6-phosphate dehydrogenase deficiency in 2 girls by Costa, E, Cabeda, J M, Abreu, M E, Silva, A, Morais, L, Alexandrino, A M, Justiça, B, Barbot, J

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low…”
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