Search Results - Celeste Bento

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  1. 1

    Understanding stakeholders’ experience with sickle cell disease by social media listening across Europe by Daniel Brás, Daniel Brás, Celeste Bento, Celeste Bento, Sathyaraj Asaithambi, Jyoti Chauhan, Ines Moital

    Published in Frontiers in Genetics (2025-09-01)
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  2. 2

    Talassemia β heterozigotica com triplicação do gene α globínico. by Ma Conceição Constanço, Paula Rocha, Celeste Bento, Helena M Silva

    Published in Acta Médica Portuguesa (2011-12-01)
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  3. 3

    A Rare Cause of Cyanosis Since Birth: Hb M-Iwate by Birgül Mutlu, Ebru Yılmaz Keskin, Ana Catarina Oliveira, Luis Relvas, Celeste Bento

    Published in Turkish Journal of Hematology (2019-11-01)
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  4. 4

    First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey by Ebru Yılmaz Keskin, Ali Fettah, Ana Catarina Oliveira, Şule Toprak, Andreia Lopes, Celeste Bento

    Published in Turkish Journal of Hematology (2017-11-01)
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  5. 5

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

    Published in Haematologica (2013-01-01)
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  6. 6

    Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age by Guilherme Queiroz, Celdidy Monteiro, Licínio Manco, Luís Relvas, Maria de Jesus Trovoada, Andreia Leite, Celeste Bento

    Published in BMC Public Health (2024-03-01)
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  7. 7

    Genetic Modifiers of HbF in HbAA and HbAS Women From São Tomé e Príncipe: An Association Study of Common Genetic Variants in BCL11A, MYB, HBG2, and BGLT3 by Licínio Manco, Afonso Marques Morais, Sara Miguel Almeida, Inês Salgado, Luís Relvas, Celdidy Monteiro, Guilherme Queiroz, Celeste Bento

    Published in Frontiers in Bioscience-Scholar (2025-06-01)
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  8. 8

    Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases by Catarina Dantas Rodrigues, Rita Pombal, Janet Pereira, Luís Relvas, Elizabete Cunha, José Carlos Almeida, Tabita Maia, Helena Silva, Celeste Bento

    Published in eJHaem (2022-08-01)
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  9. 9

    PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL-WORLD STUDY (ASCEND) by Maria Manuel Deveza, Inês Nogueira Da Fonseca, Christopher James Ornelas Monteiro Saunders, Marinela Major, Ana Luisa Tome, Joana Martins, Tabita Maia, Celeste Bento, Daniel Brás

    Published in HemaSphere (2023-08-01)
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  10. 10

    Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations by Carme Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor

    Published in Haematologica (2016-11-01)
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  11. 11

    Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population by Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento, Laura Vilarinho

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  12. 12

    5610614 ASSESSING PHYSICAL, SOCIAL AND EMOTIONAL IMPACT OF SICKLE CELL DISEASE IN PORTUGUESE PATIENTS: AN OBSERVATIONAL, MULTICENTER STUDY (ASCEND) by C.S. Christopher Saunders, M.M. Marinela Major, A.T. Ana Tomé, J.M. Joana Martins, M.M.D. Maria Manuel Deveza, T.M.M. Tabita Magalhães Maia, C.B. Celeste Bento, I.F. Inês Fonseca, I.M. Inês Moital, D.B. Daniel Brás

    Published in HemaSphere (2023-04-01)
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  13. 13

    Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis by Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie

    Published in Haematologica (2023-01-01)
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  14. 14

    P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE by José Martín Solórzano González, Sara Isabel Reidel, Ines Labidi, Claire Diot Lefebvre, Stella Tamana, Victoria Gutierrez Valle, Eduard van Beers, Raffaella Colombatti, Paola Bianchi, Angelo Loris Brunetta, Dore Peereboom, Frédéric Galactéros, Giovanna Russo, Antonis Kattamis, Laurence Dedeken, Joachim Kunz, Elena Cela, Celeste Bento, Ulf Tedgard, Andreas Glenthøj, Soteroula Christou, Marina Kleanthous, Petros Kountouris, Beatrice Gulbis, Maria Del Mar Mañú Pereira

    Published in HemaSphere (2023-08-01)
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  15. 15

    P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL by C Coralea Stephanou, P Petros Kountouris, C Carsten W Lederer, C Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, J John S Waye, Z Zhiyu Peng, I Irene Fylaktou, H Hashim Halim-Fikri, T Tamara T. Koopmann, L Landry Nfonsam, J Jun Sun, F Franck Nzengu-Lukusa, M Michael Angastiniotis, C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen, J Jacques Elion, S Suthat Fucharoen, K Kyriaki Michailidou, T Thessalia Papasavva, A Antonio Piga, R Raj Ramesar, S Swee Lay Thein, L Léon Tshilolo, Z Zilfalil Bin Alwi, M Marina Kleanthous

    Published in HemaSphere (2022-01-01)
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  16. 16

    Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis by Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valéna Karaghiannis, Bernard Aral, Mark Catherwood, Fabrice Airaud, Lamisse Mansour-Hendili, David Hoogewijs, Edoardo Peroni, Salam Idriss, Valentine Lesieur, Amandine Caillaud, Karim Si-Tayeb, Caroline Chariau, Anne Gaignerie, Minke Rab, Torsten Haferlach, Manja Meggendorfer, Stéphane Bézieau, Andrea Benetti, Nicole Casadevall, Pierre Hirsch, Christian Rose, Mathieu Wemeau, Frédéric Galacteros, Bruno Cassinat, Beatriz Bellosillo, Celeste Bento, Richard van Wijk, Petro E. Petrides, Maria Luigia Randi, Mary Frances McMullin, Peppi Koivunen, François Girodon, Betty Gardie, ECYT consortium

    Published in Haematologica (2023-06-01)
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  17. 17

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

    Published in Genome Medicine (2023-11-01)
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