Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin
Pereira, Clara, Relvas, Luís, Bento, Celeste, Abade, Augusto, Ribeiro, M. Letícia, Manco, Licínio
Published in Blood cells, molecules, & diseases (01.04.2015)
Published in Blood cells, molecules, & diseases (01.04.2015)
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Journal Article
Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers
Manco, Licínio, Bento, Celeste, Relvas, Luís, Cunha, Elisabete, Pereira, Janet, Moreira, Valeria, Alvarez, Manuela, Maia, Tabita, Ribeiro, M. Letícia
Published in Hemoglobin (03.03.2020)
Published in Hemoglobin (03.03.2020)
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Journal Article
Complex inheritance of chronic haemolytic anaemia
Coutinho, Rita, Bento, Celeste, Almeida, Helena, Cunha, Elisabete, Manco, Licínio, Ferreira, Fátima, Ribeiro, M. Letícia
Published in British journal of haematology (01.02.2009)
Published in British journal of haematology (01.02.2009)
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Journal Article
SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples
Albuquerque, David, Manco, Licínio, Loua, Kovana M., Arez, Ana Paula, Trovoada, Maria de Jesus, Relvas, Luís, Millimono, Tamba S., Rath, Silvia L., Lopes, Dinora, Nogueira, Fátima, Varandas, Luís, Alvarez, Manuela, Ribeiro, M. Letícia
Published in Annals of human biology (01.05.2011)
Published in Annals of human biology (01.05.2011)
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Journal Article
Possible thalassemia intermedia in a child (16th–18th century) from the westernmost part of Europe: potential association with malaria and past migrations
Calleja, Álvaro M. Monge, Lourenço, Marina, Macedo, Marta, Gaspar, Rosa Ramos, Ribeiro, M. Letícia, Santos, Ana Luísa
Published in Anthropological Science (2024)
Published in Anthropological Science (2024)
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Journal Article
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
Bento, Celeste, Percy, Melanie J., Gardie, Betty, Maia, Tabita Magalhães, van Wijk, Richard, Perrotta, Silverio, Della Ragione, Fulvio, Almeida, Helena, Rossi, Cedric, Girodon, François, Åström, Maria, Neumann, Drorit, Schnittger, Susanne, Landin, Britta, Minkov, Milen, Randi, Maria Luigia, Richard, Stéphane, Casadevall, Nicole, Vainchenker, William, Rives, Susana, Hermouet, Sylvie, Ribeiro, M. Leticia, McMullin, Mary Frances, Cario, Holger, Chauveau, Aurelie, Gimenez-Roqueplo, Anne-Paule, Bressac-de-Paillerets, Brigitte, Altindirek, Didem, Lorenzo, Felipe, Lambert, Frederic, Dan, Harlev, Gad-Lapiteau, Sophie, Catarina Oliveira, Ana, Rossi, Cédric, Fraga, Cristina, Taradin, Gennadiy, Martin-Nuñez, Guillermo, Vitória, Helena, Diaz Aguado, Herrera, Palmblad, Jan, Vidán, Julia, Relvas, Luis, Ribeiro, Maria Leticia, Luigi Larocca, Maria, Luigia Randi, Maria, Pedro Silveira, Maria, Percy, Melanie, Gross, Mor, Marques da Costa, Ricardo, Beshara, Soheir, Ben-Ami, Tal, Ugo, Valérie
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Journal Article
Web Resource
G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)
Manco, Licínio, Botigué, Laura R., Ribeiro, M. Letícia, Abade, Augusto
Published in Human biology (01.12.2007)
Published in Human biology (01.12.2007)
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Journal Article
Venous thromboembolism risk associated with ABO, F11 and FGG loci
Manco, Licínio, Silva, Catarina, Fidalgo, Teresa, Martinho, Patrícia, Sarmento, Ana B, Ribeiro, M Letícia
Published in Blood coagulation & fibrinolysis (01.09.2018)
Published in Blood coagulation & fibrinolysis (01.09.2018)
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Journal Article
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study
Manco, Licínio, Bento, Celeste, Victor, Bruno L., Pereira, Janet, Relvas, Luís, Brito, Rui M., Seabra, Carlos, Maia, Tabita M., Ribeiro, M. Letícia
Published in Blood cells, molecules, & diseases (01.09.2016)
Published in Blood cells, molecules, & diseases (01.09.2016)
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Journal Article
JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients
Coucelo, Margarida, Caetano, Gonçalo, Sevivas, Teresa, Almeida Santos, Susana, Fidalgo, Teresa, Bento, Celeste, Fortuna, Manuela, Duarte, Marta, Menezes, Cristina, Ribeiro, M. Letícia
Published in International journal of hematology (2014)
Published in International journal of hematology (2014)
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Journal Article
Band 3 nullVIENNA, a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis
Kager, Leo, Bruce, Lesley J., Zeitlhofer, Petra, Flatt, Joanna F., Maia, Tabita M., Ribeiro, M. Leticia, Fahrner, Bernhard, Fritsch, Gerhard, Boztug, Kaan, Haas, Oskar A.
Published in Pediatric blood & cancer (01.03.2017)
Published in Pediatric blood & cancer (01.03.2017)
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing
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
Published in Research and practice in thrombosis and haemostasis (01.07.2017)
Published in Research and practice in thrombosis and haemostasis (01.07.2017)
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Journal Article
Novel human pathological mutations. Gene symbol: RHD. Disease: reduced expression (weak D)
Pereira, Janet, Rodrigues, Maria José, Chabert, Teresa, Ribeiro, M Letícia
Published in Human genetics (01.04.2009)
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Published in Human genetics (01.04.2009)
Journal Article
Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman
Manco, Licínio, Pereira, Janet, Relvas, Luís, Rebelo, Umbelina, Crisóstomo, Ana Isabel, Bento, Celeste, Ribeiro, M. Letícia
Published in Blood cells, molecules, & diseases (15.04.2011)
Published in Blood cells, molecules, & diseases (15.04.2011)
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Journal Article
Gene symbol: PKLR. Disease: Pyruvate kinase deficiency
Manco, Licínio, Relvas, Luís, Rebelo, Umbelina, Vidán, Julia, Ribeiro, M Letícia
Published in Human genetics (01.10.2008)
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Published in Human genetics (01.10.2008)
Journal Article
Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families - 15 new mutations
SILVA PINTO, C., FIDALGO, T., SALVADO, R., MARQUES, D., GONÇALVES, E., MARTINHO, P., MARKOFF, A., MARTINS, N., LETÍCIA RIBEIRO, M.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.01.2012)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.01.2012)
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