A Rare Cause of Cyanosis Since Birth: Hb M-Iwate

por Mutlu, Birgül, Yılmaz Keskin, Ebru, Oliveira, Ana Catarina, Relvas, Luis, Bento, Celeste
Publicado 2019

Evolutionary Constraints in the β-Globin Cluster: The Signature of Purifying Selection at the δ-Globin (HBD) Locus and Its Role in Developmental Gene Regulation

por Moleirinho, Ana, Seixas, Susana, Lopes, Alexandra M., Bento, Celeste, Prata, Maria J., Amorim, António
Publicado 2013

First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey

por Yılmaz Keskin, Ebru, Fettah, Ali, Oliveira, Ana Catarina, Toprak, Şule, Lopes, Andreia, Bento, Celeste
Publicado 2017

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

por Minaidou, Anna, Tamana, Stella, Stephanou, Coralea, Xenophontos, Maria, Harteveld, Cornelis L., Bento, Celeste, Kleanthous, Marina, Kountouris, Petros
Publicado 2022

Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene

por Barradas, João, Rodrigues, Catarina Dantas, Ferreira, Gisela, Rocha, Paula, Constanço, Conceição, Andrade, Maria Reis, Bento, Celeste, Silva, Helena Matos
Publicado 2018

Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

por Rodrigues, Catarina Dantas, Pombal, Rita, Pereira, Janet, Relvas, Luís, Cunha, Elizabete, Almeida, José Carlos, Maia, Tabita, Silva, Helena, Bento, Celeste
Publicado 2022

Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

por Kirschner, Martin, Heinen, Inga Rebecca, Koschmieder, Steffen, Manco, Licinio, Bento, Celeste, Eggermann, Thomas, Kurth, Ingo, Jost, Edgar, Brümmendorf, Tim H., Fuchs, Roland
Publicado 2022

PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL-WORLD STUDY (ASCEND)

por 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
Publicado 2023

The role of PHD2 mutations in the pathogenesis of erythrocytosis

por Gardie, Betty, Percy, Melanie J, Hoogewijs, David, Chowdhury, Rasheduzzaman, Bento, Celeste, Arsenault, Patrick R, Richard, Stéphane, Almeida, Helena, Ewing, Joanne, Lambert, Frédéric, McMullin, Mary Frances, Schofield, Christopher J, Lee, Frank S
Publicado 2014

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

por Kountouris, Petros, Stephanou, Coralea, Lederer, Carsten W., Traeger‐Synodinos, Joanne, Bento, Celeste, Harteveld, Cornelis L., Fylaktou, Eirini, Koopmann, Tamara T., Halim‐Fikri, Hashim, Michailidou, Kyriaki, Nfonsam, Landry E., Waye, John S., Zilfalil, Bin A., Kleanthous, Marina
Publicado 2021

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

por 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
Publicado 2022

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

por Karaghiannis, Valéna, Maric, Darko, Garrec, Céline, Maaziz, Nada, Buffet, Alexandre, Schmitt, Loïc, Antunes, Vincent, Airaud, Fabrice, Aral, Bernard, Le Roy, Amandine, Corbineau, Sébastien, Mansour-Hendili, Lamisse, Lesieur, Valentine, Rimbert, Antoine, Laporte, Fabien, Delamare, Marine, Rab, Minke, Bézieau, Stéphane, Cassinat, Bruno, Galacteros, Frédéric, Gimenez-Roqueplo, Anne-Paule, Burnichon, Nelly, Cario, Holger, van Wijk, Richard, Bento, Celeste, Girodon, François, Hoogewijs, David, Gardie, Betty
Publicado 2023

P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE

por Solórzano González, José Martín, Reidel, Sara Isabel, Labidi, Ines, Diot Lefebvre, Claire, Tamana, Stella, Gutierrez Valle, Victoria, van 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
Publicado 2023

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

por Delamare, Marine, Le Roy, Amandine, Pacault, Mathilde, Schmitt, Loïc, Garrec, Céline, Maaziz, Nada, Myllykoski, Matti, Rimbert, Antoine, Karaghiannis, Valéna, Aral, Bernard, Catherwood, Mark, Airaud, Fabrice, Mansour-Hendili, Lamisse, Hoogewijs, David, Peroni, Edoardo, Idriss, Salam, Lesieur, Valentine, Caillaud, Amandine, Si-Tayeb, Karim, Chariau, Caroline, Gaignerie, Anne, Rab, Minke, Haferlach, Torsten, Meggendorfer, Manja, Bézieau, Stéphane, Benetti, Andrea, Casadevall, Nicole, Hirsch, Pierre, Rose, Christian, Wemeau, Mathieu, Galacteros, Frédéric, Cassinat, Bruno, Bellosillo, Beatriz, Bento, Celeste, van Wijk, Richard, Petrides, Petro E., Randi, Maria Luigia, McMullin, Mary Frances, Koivunen, Peppi, consortium, ECYT-3, Girodon, François, Gardie, Betty
Publicado 2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, 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, Fugger, Lars, 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, Karpe, Fredrik, 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, Piret, Sian E, 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, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado 2015