Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry von Manco, Licínio, Bento, Celeste, Relvas, Luís, Maia, Tabita, Ribeiro, M. Letícia

Volltext

Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin von Pereira, Clara, Relvas, Luís, Bento, Celeste, Abade, Augusto, Ribeiro, M. Letícia, Manco, Licínio

Volltext

Possible thalassemia intermedia in a child (16th–18th century) from the westernmost part of Europe: potential association with malaria and past migrations von Calleja, Álvaro M. Monge, Lourenço, Marina, Macedo, Marta, Gaspar, Rosa Ramos, Ribeiro, M. Letícia, Santos, Ana Luísa

Volltext

Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency von Manco, Licinio, Ribeiro, M Leticia

Volltext

Venous thromboembolism risk associated with ABO, F11 and FGG loci von Manco, Licínio, Silva, Catarina, Fidalgo, Teresa, Martinho, Patrícia, Sarmento, Ana B, Ribeiro, M Letícia

Volltext

The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis von Satchwell, Timothy J, Hawley, Bethan R, Bell, Amanda J, Ribeiro, M Leticia, Toye, Ashley M

Volltext

Complex inheritance of chronic haemolytic anaemia von Coutinho, Rita, Bento, Celeste, Almeida, Helena, Cunha, Elisabete, Manco, Licínio, Ferreira, Fátima, Ribeiro, M. Letícia

Volltext

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases von 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

Volltext

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study von Manco, Licínio, Bento, Celeste, Victor, Bruno L., Pereira, Janet, Relvas, Luís, Brito, Rui M., Seabra, Carlos, Maia, Tabita M., Ribeiro, M. Letícia

Volltext

JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients von Coucelo, Margarida, Caetano, Gonçalo, Sevivas, Teresa, Almeida Santos, Susana, Fidalgo, Teresa, Bento, Celeste, Fortuna, Manuela, Duarte, Marta, Menezes, Cristina, Ribeiro, M. Letícia

Volltext

G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa) von Manco, Licínio, Botigué, Laura R., Ribeiro, M. Letícia, Abade, Augusto

Volltext

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing von 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

Volltext

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent von Bento, Celeste, Maia, Tabita M, Milosevic, Jelena D, Carreira, Isabel M, Kralovics, Robert, Ribeiro, M Leticia

Volltext

Band 3 nullVIENNA, a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis von 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.

Volltext

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman von Manco, Licínio, Pereira, Janet, Relvas, Luís, Rebelo, Umbelina, Crisóstomo, Ana Isabel, Bento, Celeste, Ribeiro, M. Letícia

Volltext

Novel human pathological mutations. Gene symbol: RHD. Disease: reduced expression (weak D) von Pereira, Janet, Rodrigues, Maria José, Chabert, Teresa, Ribeiro, M Letícia

Volltext

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis von CAMPOS-XAVIER, Ana Belinda, SARAIVA, Jorge M, RIBEIRO, Leticia M, MUNNICH, Arnold, CORMIER-DAIRE, Valérie

Volltext

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency von Manco, Licínio, Relvas, Luís, Rebelo, Umbelina, Vidán, Julia, Ribeiro, M Letícia

Volltext

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families - 15 new mutations von SILVA PINTO, C., FIDALGO, T., SALVADO, R., MARQUES, D., GONÇALVES, E., MARTINHO, P., MARKOFF, A., MARTINS, N., LETÍCIA RIBEIRO, M.

Volltext

PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients von Manco, Licínio, Ribeiro, M. Letícia, Almeida, Helena, Freitas, Orquídea, Abade, Augusto, Tamagnini, Gabriel

Volltext