Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age
Queiroz, Guilherme, Monteiro, Celdidy, Manco, Licínio, Relvas, Luís, Trovoada, Maria de Jesus, Leite, Andreia, Bento, Celeste
Published in BMC public health (19.03.2024)
Published in BMC public health (19.03.2024)
Get full text
Journal Article
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations
Camps, Carme, Petousi, Nayia, Bento, Celeste, Cario, Holger, Copley, Richard R, McMullin, Mary Frances, van Wijk, Richard, Ratcliffe, Peter J, Robbins, Peter A, Taylor, Jenny C
Published in Haematologica (Roma) (01.11.2016)
Published in Haematologica (Roma) (01.11.2016)
Get full text
Journal Article
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies
Minaidou, Anna, Tamana, Stella, Stephanou, Coralea, Xenophontos, Maria, Harteveld, Cornelis L, Bento, Celeste, Kleanthous, Marina, Kountouris, Petros
Published in International journal of molecular sciences (14.12.2022)
Published in International journal of molecular sciences (14.12.2022)
Get full text
Journal Article
Evaluation of in silico predictors on short nucleotide variants in HBA1 , HBA2 , and HBB associated with haemoglobinopathies
Tamana, Stella, Xenophontos, Maria, Minaidou, Anna, Stephanou, Coralea, Harteveld, Cornelis L, Bento, Celeste, Traeger-Synodinos, Joanne, Fylaktou, Irene, Yasin, Norafiza Mohd, Abdul Hamid, Faidatul Syazlin, Esa, Ezalia, Halim-Fikri, Hashim, Zilfalil, Bin Alwi, Kakouri, Andrea C, Kleanthous, Marina, Kountouris, Petros
Published in eLife (01.12.2022)
Published in eLife (01.12.2022)
Get full text
Journal Article
A Rare Cause of Cyanosis Since Birth: Hb M-Iwate
Mutlu, Birgül, Yılmaz Keskin, Ebru, Oliveira, Ana Catarina, Relvas, Luis, Bento, Celeste
Published in Turkish journal of haematology (18.11.2019)
Published in Turkish journal of haematology (18.11.2019)
Get full text
Journal Article
PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL‐WORLD STUDY (ASCEND)
Deveza, Maria Manuel, Da Fonseca, Inês Nogueira, Monteiro Saunders, Christopher James Ornelas, Major, Marinela, Tome, Ana Luisa, Martins, Joana, Maia, Tabita, Bento, Celeste, Brás, Daniel
Published in HemaSphere (08.08.2023)
Published in HemaSphere (08.08.2023)
Get full text
Journal Article
5610614 ASSESSING PHYSICAL, SOCIAL AND EMOTIONAL IMPACT OF SICKLE CELL DISEASE IN PORTUGUESE PATIENTS: AN OBSERVATIONAL, MULTICENTER STUDY (ASCEND)
Christopher Saunders, C.S., Marinela Major, M.M., Ana Tomé, A.T., Joana Martins, J.M., Maria Manuel Deveza, M.M.D., Tabita Magalhães Maia, T.M.M., Celeste Bento, C.B., Inês Fonseca, I.F., Inês Moital, I.M., Daniel Brás, D.B.
Published in HemaSphere (01.04.2023)
Published in HemaSphere (01.04.2023)
Get full text
Journal Article
Evidence for epistasis between SLC6a4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels
COUTINHO, Ana M, SOUSA, Ines, OLIVEIRA, Guiomar, VICENTE, Astrid M, MARTINS, Madalena, CORREIA, Catarina, MORGADINHO, Teresa, BENTO, Celeste, MARQUES, Carla, ATAIDE, Assuncao, MIGUEL, Teresa S, MOORE, Jason H
Published in Human genetics (01.04.2007)
Published in Human genetics (01.04.2007)
Get full text
Journal Article
Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
Kirschner, Martin, Heinen, Inga Rebecca, Koschmieder, Steffen, Manco, Licinio, Bento, Celeste, Eggermann, Thomas, Kurth, Ingo, Jost, Edgar, Brümmendorf, Tim H., Fuchs, Roland
Published in Clinical case reports (01.03.2022)
Published in Clinical case reports (01.03.2022)
Get full text
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)
Get full text
Journal Article
P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE
Solórzano González, José Martín, Reidel, Sara Isabel, Labidi, Ines, Diot Lefebvre, Claire, Tamana, Stella, Gutierrez Valle, Victoria, Beers, Eduard, Colombatti, Raffaella, Bianchi, Paola, Brunetta, Angelo Loris, Peereboom, Dore, Galactéros, Frédéric, Russo, Giovanna, Kattamis, Antonis, Dedeken, Laurence, Kunz, Joachim, Cela, Elena, Bento, Celeste, Tedgard, Ulf, Glenthøj, Andreas, Christou, Soteroula, Kleanthous, Marina, Kountouris, Petros, Gulbis, Beatrice, Mar Mañú Pereira, Maria Del
Published in HemaSphere (08.08.2023)
Published in HemaSphere (08.08.2023)
Get full text
Journal Article
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?)
Bento, Celeste, Almeida, Helena, Maia, Tabita M., Relvas, Luís, Oliveira, Ana C., Rossi, Cédric, Girodon, François, Fernandez-Lago, Carlos, Aguado-Diaz, Ascension, Fraga, Cristina, Costa, Ricardo M., Araújo, Ana L., Silva, João, Vitória, Helena, Miguel, Natalina, Silveira, Maria Pedro, Martin-Nuñez, Guillermo, Ribeiro, Maria Letícia
Published in European journal of haematology (01.10.2013)
Published in European journal of haematology (01.10.2013)
Get full text
Journal Article
A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda
Tamura, Shinobu, Tamura, Tadahiko, Gima, Hiroya, Nishikawa, Akinori, Okamoto, Yukiharu, Kanazawa, Nobuo, Relvas, Luis, Cunha, Elizabete, McMullin, Mary Frances, Bento, Celeste
Published in Internal Medicine (01.01.2015)
Published in Internal Medicine (01.01.2015)
Get full text
Journal Article
Erythrocytosis associated with a novel missense mutation in the BPGM gene
Petousi, Nayia, Copley, Richard R, Lappin, Terence R J, Haggan, Sally E, Bento, Celeste M, Cario, Holger, Percy, Melanie J, Ratcliffe, Peter J, Robbins, Peter A, McMullin, Mary Frances
Published in Haematologica (Roma) (01.10.2014)
Published in Haematologica (Roma) (01.10.2014)
Get full text
Journal Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Fiddy, Simon, Allan, Chris, Aricescu, A Radu, Babbs, Christian, Becq, Jennifer, Beeson, David, Bignell, Patricia, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H, Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen Rf, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew Om, Bentley, David, Donnelly, Peter, McVean, Gilean
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
Get full text
Journal Article