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Browsing by Author Santos, Rosário

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Issue DateTitleAuthor(s)
2002Défice de glicose-6-fosfato desidrogenase, ictericia nenatal e Sindroma de GilbertCosta, Elísio; Vieira, Emília; Cleto, Esmeralda; Cabeda, José; Pinho, Luciana; Coimbra, Eduarda; Santos, Rosário; Barbot, José
2004Determination of neutrophil Fcc receptor IIIb antigens (HNA-1a, HNA-1b and HNA-1c) by fluorescence-primed allele-specific polymerase chain reactionCosta, Elísio; Antunes, Marika Bini; Faria, Susana; Vieira, Emília; Branca, Rosa; Barbot, José; Santos, Rosário
2003Determination of neutrophil FC receptor IIIB antigens (HNA-1A, HNA-1B AND HNA1C) by ploymerase chain reaction with sequence-specific fluorochrome-labeled primersCosta, Elísio; Antunes, Marika Bini; Faria, Susana; Vieira, Emília; Branca, Rosa; Barbot, José; Santos, Rosário
2008Factores genéticos e ambientais que afectam os níveis séricos de bilirrubina na população portuguesaRodrigues, Carina; Costa, Elísio; Santos, Rosário; Santos-Silva, Alice; Bronze-da-Rocha, Elsa
2009Genetic and acquired factors that modulate serum bilirubin levelsRodrigues, Carina; Costa, Elísio; Santos-Silva, Alice; Santos, Rosário; Bronze-da-Rocha, Elsa
2000Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemiaCosta, Elísio; Cabeda, José; Vieira, Emília; Pinto, Rui; Pereira, Susana; Ferraz, Leonor; Santos, Rosário; Barbot, José
2008Hematologically important mutations: Shwachman–Diamond syndromeCosta, Elísio; Santos, Rosário
2007Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndromeCosta, Elísio; Duque, Frederico; Oliveira, Jorge; Garcia, Paula; Gonçalves, Isabel; Diogo, Luisa; Santos, Rosário
2012Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjectsRodrigues, Carina; Vieira, Emília; Santos, Rosário; Carvalho, João; Santos-Silva, Alice; Costa, Elísio; Bronze-da-Rocha, Elsa
2010Influence of genetic and aquired factors that modify serum bilirubin levels in the portuguese populationRodrigues, Carina; Costa, Elísio; Santos, Rosário; Santos-Silva, Alice; Bronze-da-Rocha, Elsa
2010Influence of genetic and aquired factors that modify serum bilirubin levels in the portuguese populationRodrigues, Carina; Elísio, Costa; Santos, Rosário; Santos-Silva, Alice; Bronze-da-Rocha, Elsa
2002Influencia del síndrome de Gilbert en los valores de bilirrubina sérica y presencia de litiasis vesicular en pacientes con hemólisis crónica congénitaCosta, Elísio; Pinto, Rui; Vieira, Emília; Polo, Sonia; Sarmento, Ana Margarida; Oliveira, Isabel; Pimenta, Rui; Santos, Rosário; Barbot, José
2008Interference of environmental factors in serum bilirubin levels - a preliminary studyRodrigues, Carina; Costa, Elísio; Gomes, Pedro; Abreu, Rui M.V.; Santos, Rosário; Santos-Silva, Alice; Bronze-da-Rocha, Elsa
2005Molecular characterization of a portuguese patient with Shwachman-Diamond syndromeLima, Rosa; Costa, Elísio; Rocha, Cristina; Vieira, Emília; Santos, Rosário; Barbot, José; Rocha, Herculano
2007Molecular study of portuguese patients with clinical diagnosis of Shwachman-Diamond syndromeCosta, Elísio; Oliveira, Jorge; Vieira, Emília; Garcia, Paula; Gonçalves, Isabel; Diogo, Luisa; Barbot, José; Santos, Rosário
2005Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.Rodrigues, Carina; Jorge, Paula; Soares, José Pires; Santos, Isaura; Salomão, Regina; Madeira, Manuela; Vaz-Osório, Rui; Santos, Rosário
1999Mutation spectrum and phenotypes of thirty Portuguese families with autosomal recessive limb-girdle muscular dystrophySantos, Rosário; Vieira, Emília; Rodrigues, Carina; Jorge, Paula; Pires, M. Melo; Guimarães, Ana Paula; Coelho, T.; Evangelista, T.; Santos, M.A.; Fineza, I.; Machado, C.; Ferreira, F.; Vasconcelos, R.; Fernandes, H. Cabral; Santos, H.; Urtizberea, J.A.
2004A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndromeCoelho, Henrique; Costa, Elísio; Branca, Rosa; Santos, Rosário; Barbot, José
2003Pentanucleotide repeat (TTTTA)n polymorphism in the 5' control region of the apoliprotein (A) gene and atherothrombotic serum lipoprotein (A) concentration, in a pediatric populationFerreira, Helena; Costa, Elísio; Vieira, Emília; Leão, Anabela; Magalhães, Rui; Gomes, Lourenço; Barbot, José; Santos, Rosário
2005The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome.Costa, Elísio; Vieira, Emília; Santos, Rosário
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