Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Seuanes, Filomena"'
Autor:
Gaspar, Gisela, Ramalho, Rita de Mira, Seuanes, Filomena, Feliciano, Carla, Duarte, Guida, Copeto, Sandra, Costa, Alcina, Santos, João Xavier, Miranda, Armandina
As talassémias são caracterizadas por um desequilíbrio quantitativo nas cadeias globinicas devido à redução ou supressão da síntese de uma das cadeias. Foram avaliados retrospetivamente os resultados de 496 casos suspeitos de α-talassémia d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::12fd51b4729a81fe820a7cd0c9308dc3
https://hdl.handle.net/10400.18/8265
https://hdl.handle.net/10400.18/8265
Autor:
Ndaw, Sophie, Leso, Veruscka, Bousoumah, Radia, Rémy, Aurélie, Bocca, Beatrice, Duca, Radu Corneliu, Godderis, Lode, Hardy, Emilie, Janasik, Beata, van Nieuwenhuyse, An, Pinhal, Hermínia, Poels, Katrien, Porras, Simo P., Ruggieri, Flavia, Santonen, Tiina, Santos, Sílvia Reis, Scheepers, Paul. T. J., Silva, Maria João, Verdonck, Jelle, Viegas, Susana, Wasowicz, Wojciech, Iavicoli, Ivo, Aimonen, Kukka, Antoine, Guillaume, Anzion, Rob, Burgart, Manuella, Cattaneo, Andrea, Cavallo, Domenico M., Costa, Alcina, De Palma, Giuseppe, Denis, Flavien, Forte, Giovanni, Gambelunghe, Angela, Hanser, Ogier, Ladeira, Carina, Leese, Elisabeth, Lehtinen, Risto, Louro, Henriqueta, Lovreglio, Piero, Majery, Nicole, Marsan, Philippe, Melczer, Mathieu, Miranda, Armandida, Ribeiro, Edna, Schaefers, Françoise, Senofonte, Marta, Seuanes, Filomena, van Dael, Maurice, Velin, Riitta
Publikováno v:
Environmental Research, 214
HBM4EU chromates study team: Kukka Aimonen8, Guillaume Antoine1, Rob Anzion9, Manuella Burgart1, Andrea Cattaneo11, Domenico M. Cavallo11, Alcina Costa12, Giuseppe De Palma13, Flavien Denis1, Giovanni Forte3, Angela Gambelunghe14, Ogier Hanser1, Cari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7c9d0888c994c64b2e54c8c9b02790
https://doi.org/10.1016/j.envres.2022.113758
https://doi.org/10.1016/j.envres.2022.113758
Publikováno v:
In Blood Cells, Molecules and Diseases 2010 45(2):147-153
Autor:
Miranda, Armandina, Correia, Helena, Reis, Ana, Miranda, Ana, Silva, Susana Pereira, Seuanes, Filomena, Meireles, Flora, Azevedo, Ana Paula, Faria, Ana Paula
Introduction: External Quality Assessment Programs (EQA) evaluate retrospectively the laboratory results, assessing their performance and competence. They play a key role in the continuous training process of the professionals, contributing not only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::850042be597e0ff99057a603765b4787
https://hdl.handle.net/10400.18/7870
https://hdl.handle.net/10400.18/7870
Autor:
Miranda, Armandina, Seuanes, Filomena, Copeto, Sandra, Loureiro, Pedro, Picanço, Isabel, Costa, Alcina, Costa, Sandra, Seixas, Maria Teresa, Gonçalves, João, Faustino, Paula
As hemoglobinopatias são doenças genéticas relacionadas com défice da hemoglobina, a proteína vital para o transporte de oxigénio no organismo. De entre elas salienta-se a Drepanocitose causada pela variante S da hemoglobina (HbS) em homozigoti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::9bc7cf9d1fc47656a24a8fdc2849d2fe
https://hdl.handle.net/10400.18/5677
https://hdl.handle.net/10400.18/5677
Autor:
Miranda, Armandina, Seuanes, Filomena, Copeto, Sandra, Loureiro, Pedro, Costa, Alcina, Costa, Sandra, Seixas, Maria Teresa, Gonçalves, João, Faustino, Paula
Introdução: As hemoglobinopatias são doenças monogénicas hereditárias, de transmissão autossómica recessiva, resultantes de mutações nos genes codificantes para as cadeias de globina da hemoglobina (Hb), ou nas suas regiões regulatórias.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::1e45ce63f54f64558c92a8267cbe04d0
https://hdl.handle.net/10400.18/5302
https://hdl.handle.net/10400.18/5302
Autor:
Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Loureiro, Pedro, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Batalha Reis, Ana, Pina, Francisca, Maia, Raquel, Kjollerstrom, Paula, Monteiro, Estela, F. Lacerda, João, Lavinha, João, Gonçalves, João, Faustino, Paula
Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It is composed by four globular subunits - the globins - each with a central core containing a heme molecule. Globins are encoded by the α- and β-glob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::e476e9c77c4bacec8514b456d1c6c1a2
https://hdl.handle.net/10400.18/4843
https://hdl.handle.net/10400.18/4843
Autor:
Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Loureiro, Pedro, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Batalha Reis, Ana, Valtonen-André, Camila, Sonesson, Annika, Pina, Francisca, Maia, Raquel, Kjollerstrom, Paula, Monteiro, Estela, F. Lacerda, João, Lavinha, João, Gonçalves, João, Faustino, Paula
European Society of Human Genetics, 27-30 May 2017 Introduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the most common genetic recessive disorders worl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::3f9b3015debf22cd687d7a8a562b3b58
https://hdl.handle.net/10400.18/4842
https://hdl.handle.net/10400.18/4842
Autor:
Miranda, Armandina, Faustino, Paula, Gonçalves, João, Seuanes, Filomena, Copeto, Sandra, Loureiro, Pedro, Costa, Alcina, Costa, Sandra, Seixas, Maria Teresa
9ª Reunião Científica da Sociedade Portuguesa de Medicina Laboratorial, 7-8 abril 2017 Hemoglobinopathies are among the most common inherited diseases around the world and are one of the world’s major health problems. They are monogenic diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::dab6bf9bb79db39e4322e5b62205ea0d
https://hdl.handle.net/10400.18/4721
https://hdl.handle.net/10400.18/4721
Autor:
Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Batalha-Reis, Ana, Valtonen-Andrá, C., Sonesson, A., Pina, Francisca, Forjaz-Lacera, João, Maia, Raquel, Kjollerstrom, Paula, Lavinha, João, Gonçalves, João, Faustino, Paula
Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It is composed by four globular subunits - the globins - each with a central core containing a heme molecule. Globins are encoded by the α- and β-glob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::fa5d9bbf27f4064bb94544021694c9b5
https://hdl.handle.net/10400.18/4165
https://hdl.handle.net/10400.18/4165