Celeste Bento is the coordinator of the Congenital Red Blood Cell Diseases Unit at University Hospital Coimbra, Portugal. She is a Clinical Laboratory Geneticist certified by the European Board of Medical Genetics, and obtained his PhD in Biomedicine from ICBAS, University of Porto, with a thesis in advances in the Molecular Characterization of Congenital Erythrocytosis. She is also a researcher at the Research Centre for Anthropology and Health (CIAS), University of Coimbra. Main scientific areas of research are Hemoglobinopathies, Congenital Hemolytic Anemias and Congenital Erythrocytosis. In addition to his research activities, Dr Bento is involved in national scientific and patients associations, and international groups, as the European network for Experts on the Molecular Diagnosis of Myeloproliferative Neoplasm and MPN-related congenital diseases (MPN&MPNr-Euronet), the EuroBloodNet, the Red Cell and Iron Disorders group of EHA and the Human Variome Project.
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Identificação pessoal

Nome completo
Celeste Bento

Nomes de citação

  • Bento, Celeste
  • Bento, C

Identificadores de autor

Ciência ID
2F17-8B0A-2D56
ORCID iD
0000-0003-1080-411X

Websites

Domínios de atuação

  • Ciências Médicas e da Saúde - Medicina Básica - Genética Humana

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Inglês Utilizador proficiente (C1) Utilizador proficiente (C2) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Português (Idioma materno)
Espanhol; Castelhano Utilizador proficiente (C1) Utilizador proficiente (C2) Utilizador independente (B1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Francês Utilizador elementar (A2) Utilizador independente (B1) Utilizador elementar (A2) Utilizador independente (B1) Utilizador elementar (A1)
Grau Classificação
2015/07/06
Concluído
 Doutoramento (Doutoramento)
Especialização em Biomedicine
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Tese "Advances in the Molecular Characterization of Congenital Erythrocytosis" " (TESE/DISSERTAÇÃO)
 Excelente
2015
Concluído
 Ciências Biomédicas (Doutoramento)
Especialização em Sem especialidade
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Novel insights on molecular characterization of congenital erythrocytosis" (TESE/DISSERTAÇÃO)
 Aprovado com distinção
2014
Concluído
 Clinical Laboratory Geneticist (Postgraduate Certificate)
European Society of Human Genetics , França
1996
Concluído
 Grau de especialista em Genética (Especialização pós-licenciatura)
Administração Central do Sistema de Saúde do Ministério da Saúde, Portugal
 Muito Bom
1995
Concluído
 Mestrado em Biologia Celular e Molecular (Mestrado)
Universidade de Coimbra, Portugal
 Exceçlente
1989
Concluído
 Bioquímica (Licenciatura)
Universidade de Coimbra, Portugal
 Muito Bom

Ciência

Categoria Profissional
Instituição de acolhimento 		Empregador
2015/07/24 - Atual Pós-doutorado (Investigação) Universidade de Coimbra, Portugal

Outras Carreiras

Categoria Profissional
Instituição de acolhimento 		Empregador
1992/12/01 - Atual Assessor (Técnico Superior de Saúde) Centro Hospitalar e Universitário de Coimbra EPE, Portugal

Projeto

Designação Financiadores
2006/01/02 - Atual Estudo para determinar se na Doença Mieloproliferativa a perda de heterozigotia para a mutação JAK2 V617F e o aumento dos níveis de CD34+, de granulocitos e plaquetas activados em circulação se correlacionam com a progressão da doença
PTDC/SAU-GMG/74375/2006
Investigador
Concluído

Outro

Designação Financiadores
2013 - Atual Whole Genome Sequencing 500
WGS500
Investigador
2012/01/01 - Atual Web-based International database for Congenital Erythrocytosis
MPN&MPNr-Euronet
Desenvolvimento técnico
Concluído

Publicações

Artigo em revista
  1. Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; et al. "Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases". Genome Medicine 15 1 (2023): http://dx.doi.org/10.1186/s13073-023-01240-0.
    10.1186/s13073-023-01240-0
  2. Mañú Pereira, María del Mar; Colombatti, Raffaella; Alvarez, Federico; Bartolucci, Pablo; Bento, Celeste; Brunetta, Angelo Loris; Cela, Elena; et al. "Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective". The Lancet Haematology 10 8 (2023): e687-e694. http://dx.doi.org/10.1016/s2352-3026(23)00182-5.
    10.1016/s2352-3026(23)00182-5
  3. Harteveld, Cornelis L.; Patrinos, George P.; Traeger-Synodinos, Joanne; Kountouris, Petros; Bento, Celeste; Adekile, Adekunle. "Submitting Novel Globin Gene Variants to Hemoglobin". Hemoglobin 47 4 (2023): 135-136. http://dx.doi.org/10.1080/03630269.2023.2258618.
    10.1080/03630269.2023.2258618
  4. Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; et al. "Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis". Haematologica 108 11 (2023): 3068-3085. http://dx.doi.org/10.3324/haematol.2023.282913.
    10.3324/haematol.2023.282913
  5. Karaghiannis, Valéna; Maric, Darko; Garrec, Céline; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loïc; Antunes, Vincent; et al. "Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis". Haematologica 108 6 (2023): 1652-1666. http://dx.doi.org/10.3324/haematol.2022.281698.
    10.3324/haematol.2022.281698
  6. Minaidou, Anna; Tamana, Stella; Stephanou, Coralea; Xenophontos, Maria; Harteveld, Cornelis L.; Bento, Celeste; Kleanthous, Marina; Kountouris, Petros. "A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies". International Journal of Molecular Sciences 23 24 (2022): 15920. http://dx.doi.org/10.3390/ijms232415920.
    10.3390/ijms232415920
  7. Tamana, Stella; Xenophontos, Maria; Minaidou, Anna; Stephanou, Coralea; Harteveld, Cornelis L; Bento, Celeste; Traeger-Synodinos, Joanne; et al. "Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies". eLife 11 (2022): http://dx.doi.org/10.7554/elife.79713.
    10.7554/elife.79713
  8. Manco, Licínio; Bento, Celeste; Relvas, Luís; Maia, Tabita; Ribeiro, Maria Letícia. "Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) na População Portuguesa". Acta Médica Portuguesa (2022): http://dx.doi.org/10.20344/amp.17584.
    10.20344/amp.17584
  9. Dasdemir, Sevgi; Kaya, Zühre; Bento, Celeste. "Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis". Journal of Pediatric Hematology/Oncology 45 3 (2022): 149-150. http://dx.doi.org/10.1097/mph.0000000000002554.
    10.1097/mph.0000000000002554
  10. Rodrigues, Catarina Dantas; Pombal, Rita; Pereira, Janet; Relvas, Luís; Cunha, Elizabete; Almeida, José Carlos; Maia, Tabita; Silva, Helena; Bento, Celeste. "Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases". eJHaem 3 3 (2022): 989-991. http://dx.doi.org/10.1002/jha2.490.
    10.1002/jha2.490
  11. Licínio Manco; Raquel Santos; Catarina Rocha; Luís Relvas; Celeste Bento; Tabita Maia; Verónica Gomes; António Amorim; Maria J. Prata. "Hb F Levels in ß-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the ß-Globin Gene Cluster". Hemoglobin (2022): https://doi.org/10.1080/03630269.2022.2070498.
    10.1080/03630269.2022.2070498
  12. Kirschner, Martin; Heinen, Inga Rebecca; Koschmieder, Steffen; Manco, Licinio; Bento, Celeste; Eggermann, Thomas; Kurth, Ingo; et al. "Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling". Clinical Case Reports 10 3 (2022): http://dx.doi.org/10.1002/ccr3.5501.
    10.1002/ccr3.5501
  13. Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Traeger-Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L.; Fylaktou, Eirini; et al. "Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel". Human Mutation 43 8 (2021): 1089-1096. http://dx.doi.org/10.1002/humu.24280.
    10.1002/humu.24280
  14. Licínio Manco; Celeste Bento; Luís Relvas; Elisabete Cunha; Janet Pereira; Valeria Moreira; Manuela Alvarez; Tabita Maia; M. Letícia Ribeiro. "Multi-Locus Models to Address Hb F Variability in Portuguese ß-Thalassemia Carriers". Hemoglobin 44 2 (2020): 113-117. https://doi.org/10.1080/03630269.2020.1753766.
    10.1080/03630269.2020.1753766
  15. Celeste Bento; Petros Kountouris; Coralea Stephanou; Carsten W. Lederer; Marina Kleanthous. "Variant Scoring Based on ClinGen Tools and Hemoglobinopathy-Specific Criteria". Hemoglobin 43 6 (2019): 326-326. https://doi.org/10.1080/03630269.2020.1719589.
    10.1080/03630269.2020.1719589
  16. Barradas, J.; Rodrigues, C.D.; Ferreira, G.; Rocha, P.; Constanço, C.; Andrade, M.R.; Bento, C.; Silva, H.M.. "Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene". Clinical Case Reports 6 6 (2018): 1109-1111. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050039248&partnerID=MN8TOARS.
    10.1002/ccr3.1499
  17. Bento, C.. "Genetic basis of congenital erythrocytosis". International Journal of Laboratory Hematology 40 (2018): 62-67. http://www.scopus.com/inward/record.url?eid=2-s2.0-85046829212&partnerID=MN8TOARS.
    10.1111/ijlh.12828
  18. Lenglet, M.; Robriquet, F.; Schwarz, K.; Camps, C.; Couturier, A.; Hoogewijs, D.; Buffet, A.; et al. "Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease". Blood 132 5 (2018): 469-483. http://www.scopus.com/inward/record.url?eid=2-s2.0-85051219558&partnerID=MN8TOARS.
    10.1182/blood-2018-03-838235
  19. Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; et al. "Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference". British Journal of Haematology 183 4 (2018): 648-660. http://hdl.handle.net/10400.18/6266.
    10.1111/bjh.15600
  20. Yilmaz Keskin E; Fettah A; Oliveira AC; Toprak S; Lopes A; Bento C. "First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey.". Turkish journal of haematology : official journal of Turkish Society of Haematology (2017): http://europepmc.org/abstract/med/28832008.
    10.4274/tjh.2017.0213
  21. Bento, C. "ITHANET: Information and database community portal for haemoglobinopathies.". bioRxiv (2017): https://doi.org/10.1101/209361.
    Publicado
  22. Del Orbe Barreto R; Arrizabalaga B; De la Hoz AB; García-Orad Á; Tejada MI; Garcia-Ruiz JC; Fidalgo T; et al. "Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.". International journal of laboratory hematology (2016): http://europepmc.org/abstract/med/27427187.
    10.1111/ijlh.12551
  23. Del Orbe Barreto R; Arrizabalaga B; De la Hoz Rastrollo AB; García-Orad A; Gonzalez Vallejo I; Bento C; Villegas A; García-Ruiz JC. "Hereditary xerocytosis, a misleading anemia.". Annals of hematology (2016): http://europepmc.org/abstract/med/27250707.
    10.1007/s00277-016-2716-9
  24. Del Orbe Barreto R; Arrizabalaga B; de la Hoz AB; Aragües P; Garcia-Ruiz JC; Arrieta A; Adán R; et al. "Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.". International journal of laboratory hematology (2016): http://europepmc.org/abstract/med/26693676.
    10.1111/ijlh.12455
  25. Cabral V; Silva Nunes J; Bento C; Sobreira R; Rodrigues I; Shvets R; Silvestre MJ; Barros R. "Haemoglobin kenitra identified in a Portuguese man with type 2 diabetes and pheochromocytoma.". International journal of laboratory hematology (2016): http://europepmc.org/abstract/med/26541898.
    10.1111/ijlh.12437
  26. Engert A; Balduini C; Brand A; Coiffier B; Cordonnier C; Döhner H; de Wit TD; et al. "The European Hematology Association Roadmap for European Hematology Research: a consensus document.". Haematologica (2016): http://europepmc.org/abstract/med/26819058.
    10.3324/haematol.2015.136739
  27. Camps, Carme; Petousi, Nayia; Bento, Celeste; Cario, Holger; Copley, Richard R.; McMullin, Mary Frances; van Wijk, Richard; et al. "Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations". Haematologica (2016): http://hdl.handle.net/10316/45850.
    10.3324/haematol.2016.144063
  28. Abecasis, Francisco; Marques, Inês; Bento, Celeste; Ferrão, Anabela; Abecasis F; Marques I; Bento C; Ferrão A. "A novel haemoglobin variant mimicking cyanotic congenital heart disease". BMJ case reports (2016): http://hdl.handle.net/10316/45843.
    10.1136/bcr-2015-213615
  29. Pereira, Janet; Bento, Celeste; Manco, Licinio; Gonzalez, Ataulfo; Vagace, Jose; Ribeiro, Maria Letícia; Pereira J; et al. "Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency". Annals of hematology (2016): http://hdl.handle.net/10316/45869.
    10.1007/s00277-016-2720-0
  30. Manco, Licínio; Bento, Celeste; Victor, Bruno L.; Pereira, Janet; Relvas, Luís; Brito, Rui M.; Seabra, Carlos; et al. "Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study". Blood cells, molecules & diseases (2016): http://hdl.handle.net/10316/45864.
    10.1016/j.bcmd.2016.06.002
  31. McMullin MF; Bento C; Rossi C; Rainey MG; Girodon F; Cario H. "Outcomes of pregnancy in patients with congenital erythrocytosis.". British journal of haematology (2015): http://europepmc.org/abstract/med/25732921.
    10.1111/bjh.13313
  32. Taylor JC; Martin HC; Lise S; Broxholme J; Cazier JB; Rimmer A; Kanapin A; et al. "Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.". Nature genetics (2015): http://europepmc.org/abstract/med/25985138.
    10.1038/ng.3304
  33. Pereira C; Relvas L; Bento C; Abade A; Ribeiro ML; Manco L; Pereira, Clara; et al. "Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.". Blood cells, molecules & diseases (2015): http://europepmc.org/abstract/med/25842369.
    10.1016/j.bcmd.2015.02.001
  34. Vagace JM; Peças A; Groiss J; Bento C; Ribeiro ML; Gervasini G; Vagace, Jose M.; et al. "Clinical relevance of erythrocyte ferritin in microcytic anemias.". Clinica chimica acta; international journal of clinical chemistry (2015): http://europepmc.org/abstract/med/25562818.
    10.1016/j.cca.2014.12.035
  35. Tamura S; Tamura T; Gima H; Nishikawa A; Okamoto Y; Kanazawa N; Relvas L; et al. "A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.". Internal medicine (Tokyo, Japan) (2015): http://europepmc.org/abstract/med/26370867.
    10.2169/internalmedicine.54.4520
  36. Toste, Sandra; Relvas, Luís; Pinto, Catarina; Bento, Celeste; Abade, Augusto; Ribeiro, M Letícia; Manco, Licínio; et al. "Intragenic haplotype analysis of common HFE mutations in the Portuguese population". Journal of genetics (2015): http://hdl.handle.net/10316/45909.
    10.1007/s12041-015-0510-4
  37. Petousi N; Copley RR; Lappin TR; Haggan SE; Bento CM; Cario H; Percy MJ; et al. "Erythrocytosis associated with a novel missense mutation in the BPGM gene.". Haematologica (2014): http://europepmc.org/abstract/med/25015942.
    10.3324/haematol.2014.109306
  38. Gross M; Ben-Califa N; McMullin MF; Percy MJ; Bento C; Cario H; Minkov M; Neumann D. "Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.". British journal of haematology (2014): http://europepmc.org/abstract/med/24533580.
    10.1111/bjh.12782
  39. Bento C; Percy MJ; Gardie B; Maia TM; van Wijk R; Perrotta S; Della Ragione F; et al. "Genetic basis of congenital erythrocytosis: mutation update and online databases.". Human mutation (2014): http://europepmc.org/abstract/med/24115288.
    10.1002/humu.22448
  40. Coucelo M; Caetano G; Sevivas T; Almeida Santos S; Fidalgo T; Bento C; Fortuna M; et al. "JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients.". International journal of hematology (2014): http://europepmc.org/abstract/med/24277659.
    10.1007/s12185-013-1475-9
  41. Gardie B; Percy MJ; Hoogewijs D; Chowdhury R; Bento C; Arsenault PR; Richard S; et al. "The role of PHD2 mutations in the pathogenesis of erythrocytosis.". Hypoxia (Auckland, N.Z.) (2014): http://europepmc.org/abstract/med/27774468.
  42. Spinola, Ana Isabel Franco; Guilherme, Raquel Ferreira; Bento, Celeste; Relvas, Luís; Oliveira, Ana Catarina; Neves, José Farela; Ribeiro, Maria Letícia. "Cianose Central Neonatal: nem sempre cardíaca, nem sempre pulmonar". (2014): https://pjp.spp.pt//article/view/3690.
    10.25754/pjp.2014.3690
  43. Bento, Celeste; Percy, Melanie J.; Gardie, Betty; Maia, Tabita Magalhães; van Wijk, Richard; Perrotta, Silverio; Della Ragione, Fulvio; et al. "Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases". (2014): http://hdl.handle.net/10316/45644.
  44. Cario H; McMullin MF; Bento C; Pospisilova D; Percy MJ; Hussein K; Schwarz J; et al. "Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach.". Pediatric blood & cancer (2013): http://europepmc.org/abstract/med/23776154.
    10.1002/pbc.24625
  45. Bento C; Almeida H; Fernandez-Lago C; Ribeiro ML. "Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.". International journal of laboratory hematology (2013): http://europepmc.org/abstract/med/23521759.
    10.1111/ijlh.12061
  46. Bento C; Almeida H; Maia TM; Relvas L; Oliveira AC; Rossi C; Girodon F; et al. "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)?).". European journal of haematology (2013): http://europepmc.org/abstract/med/23859443.
    10.1111/ejh.12170
  47. Bento C; Magalhães Maia T; Carvalhais I; Moita F; Abreu G; Relvas L; Pereira A; et al. "Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.". Journal of pediatric hematology/oncology 35 2 (2013): http://europepmc.org/abstract/med/22935660.
    10.1097/mph.0b013e3182667be3
  48. Bento C; Maia TM; Milosevic JD; Carreira IM; Kralovics R; Ribeiro ML. "ß Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.". Haematologica (2013): http://europepmc.org/abstract/med/22875618.
    10.3324/haematol.2012.064097
  49. Cunha E; Bento C; Oliveira A; Relvas L; Neves J; Gameiro M; Barros C; et al. "Hb Plasencia [a125(H8)Leu¿Arg (a2)] is a frequent cause of a+-thalassemia in the Portuguese population.". Hemoglobin (2013): http://europepmc.org/abstract/med/23368878.
    10.3109/03630269.2013.763822
  50. Moleirinho A; Seixas S; Lopes AM; Bento C; Prata MJ; Amorim A. "Evolutionary constraints in the ß-globin cluster: the signature of purifying selection at the d-globin (HBD) locus and its role in developmental gene regulation.". Genome biology and evolution (2013): http://europepmc.org/abstract/med/23431002.
    10.1093/gbe/evt029
  51. Millimono TS; Loua KM; Rath SL; Relvas L; Bento C; Diakite M; Jarvis M; et al. "High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).". Hemoglobin (2012): http://europepmc.org/abstract/med/21929367.
    10.3109/03630269.2011.600491
  52. Bento C; Oliveira AC; Neves J; Gameiro M; Cunha E; Coucelo M; Costa RM; et al. "Hb Iberia [a104(G11)Cys ¿ Arg,TGC>CGC (a2) (HBA2:c.313T>C)], a new a-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.". Hemoglobin (2012): http://europepmc.org/abstract/med/23181747.
    10.3109/03630269.2012.742911
  53. Catré D; Lopes MF; Bento C; Cabrita AS; Catré,Dora; Lopes,Maria Francelina; Bento,Celeste; Cabrita,António Silvério. "Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury.". Acta cirurgica brasileira (2011): http://europepmc.org/abstract/med/22042108.
    10.1590/s0102-86502011000600009
  54. Manco L; Pereira J; Relvas L; Rebelo U; Crisóstomo AI; Bento C; Ribeiro ML. "Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman.". Blood cells, molecules & diseases (2011): http://europepmc.org/abstract/med/21397531.
    10.1016/j.bcmd.2011.02.001
  55. Catré, D.; Lopes, M.F.; Bento, C.; Cabrita, A.S.. "Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury,Estratégia protetora perioperatória usando um hidroxietilamido de terceira geração para expansão volêmica durante a cirurgia em modelo murino de lesão de reperfusão hepática". Acta Cirurgica Brasileira 26 6 (2011): 456-462. http://www.scopus.com/inward/record.url?eid=2-s2.0-82355182903&partnerID=MN8TOARS.
    10.1590/S0102-86502011000600009
  56. Constanço, C.; Rocha, P.; Bento, C.; Silva, H.M.. "Heterozygous? Thalassemia with Triplication of the? Globin Gene,Talassemia B heterozigotica com triplicação do gene a globínico". Acta Medica Portuguesa 24 4 (2011): 633-636. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856003530&partnerID=MN8TOARS.
  57. Constanço, Ma Conceição; Rocha, Paula; Bento, Celeste; Silva, Helena M; Constanço MC; Rocha P; Bento C; Silva HM. "Heterozygous ß thalassemia with triplication of the a globin gene.". Acta medica portuguesa (2011): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476.
    10.20344/amp.476
  58. Manco L; Vagace JM; Relvas L; Rebelo U; Bento C; Villegas A; Letícia Ribeiro M. "Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.". European journal of haematology (2010): http://europepmc.org/abstract/med/19758413.
    10.1111/j.1600-0609.2009.01353.x
  59. Coutinho R; Bento C; Almeida H; Cunha E; Manco L; Ferreira F; Ribeiro ML. "Complex inheritance of chronic haemolytic anaemia.". British journal of haematology (2009): http://europepmc.org/abstract/med/19036089.
    10.1111/j.1365-2141.2008.07479.x
  60. Relvas, L.; Claro, M.T.; Bento, M.C.; Ribeiro, M.L.. "Novel human pathological mutations. Gene symbol: SLC40A1. Disease: haemochromatosis, type 4.". Human genetics 125 3 (2009): 338-338. http://www.scopus.com/inward/record.url?eid=2-s2.0-64249083699&partnerID=MN8TOARS.
  61. Coutinho, Ana; Sousa, Inês; Martins, Madalena; Correia, Catarina; Morgadinho, Teresa; Bento, Celeste; Marques, Carla; et al. "Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels". Human genetics (2007): http://hdl.handle.net/10316/8477.
    10.1007/s00439-006-0301-3
  62. Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile; Feng, Jinong; Yan, Jin; Yang, Chunmei; Marques, Carla; et al. "MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients". American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2007): http://hdl.handle.net/1822/67669.
    10.1002/ajmg.b.30490
  63. Bento C; Relvas L; Vazão H; Campos J; Rebelo U; Ribeiro ML; Bento, C.; et al. "The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants.". Haematologica 91 11 (2006): 1565-1565. http://europepmc.org/abstract/med/17082015.
  64. Vazão, H.; Bento, C.; Ribeiro, L.; Vazão H; Bento C; Ribeiro L. "Gene symbol: HBA1. Disease: Haemoglobin alpha 1.". Human genetics 117 2-3 (2005): 296-296. http://www.scopus.com/inward/record.url?eid=2-s2.0-26944476012&partnerID=MN8TOARS.
  65. Bento, M.C.; Chang, K.-T.; Guan, Y.; Liu, E.; Caldas, G.; Gatti, R.A.; Prchal, J.T.. "Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: Five new Caucasian patients". Haematologica 90 1 (2005): 128-129. http://www.scopus.com/inward/record.url?eid=2-s2.0-13244272302&partnerID=MN8TOARS.
  66. Manco, L.; Pereira, J.; Bento, M.C.; Ribeiro, M.L.. "Gene symbol: NT5C3. Disease: haemolytic anemia.". Human genetics 118 3-4 (2005): 534-534. http://www.scopus.com/inward/record.url?eid=2-s2.0-33644957107&partnerID=MN8TOARS.
  67. Coutinho AM; Oliveira G; Morgadinho T; Fesel C; Macedo TR; Bento C; Marques C; et al. "Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism.". Molecular Psychiatry (2004): http://europepmc.org/abstract/med/15094787.
    10.1038/sj.mp.4001409
  68. Silva, S.C.; Correia, C.; Fesel, C.; Barreto, M.; Coutinho, A.M.; Marques, C.; Miguel, T.S.; et al. "Autoantibody repertoires to brain tissue in autism nuclear families". Journal of Neuroimmunology 152 1-2 (2004): 176-182. http://www.scopus.com/inward/record.url?eid=2-s2.0-3042615494&partnerID=MN8TOARS.
    10.1016/j.jneuroim.2004.03.015
  69. Bento, M.C.; Ribeiro, M.L.; Relvas, L.. "Gene symbol: HFE. Disease: Haemochromatosis.". Human genetics 114 4 (2004): 405-405. http://www.scopus.com/inward/record.url?eid=2-s2.0-2142657297&partnerID=MN8TOARS.
  70. Manco L; Bento C; Ribeiro ML; Tamagnini G. "Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency.". British journal of haematology (2002): http://europepmc.org/abstract/med/12181074.
    10.1046/j.0007-1048.2002.03665.x
  71. Manco, L.; Bento, C.; Ribeiro, M.L.; Tamagnini, G.. "Consequences at mRNa level of the PKLR gene splicing mutations IVS10(+1)G ¿ C and IVS8(+2)T ¿ G causing pyruvate kinase deficiency [7]". British Journal of Haematology 118 3 (2002): 927-928. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036037287&partnerID=MN8TOARS.
  72. Bento, M.C.; Ribeiro, M.L.; Cunha, E.; Rebelo, U.; Granjo, E.; Granado, C.; Tamagnini, G.P.. "Hb Vila Real [ß36(C2)Pro¿His]: A newly discovered high oxygen affinity variant". Hemoglobin 24 1 (2000): 59-63. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034010662&partnerID=MN8TOARS.
    10.3109/03630260009002275
  73. Bento, M.C.; Ribeiro, M.L.; Cunha, E.; Goncalves, P.; Martin-Nunez, G.; Tamagnini, G.. "ß-thalassemia intermedia resulting from compound heterozygosity for an IVSI-1 (G-A) and a silent 5'UTR +33 (C-G) mutation". Haematologica 85 4 (2000): 443-441. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034170499&partnerID=MN8TOARS.
  74. Bento, C.; Almeida, H.; Pereira, J.; Martin Núñez, G.; Tamagnini, G.P.; Ribeiro ML; Gonçalves P; et al. "Genetic heterogeneity of ß-thalassemia in populations of the Iberian Peninsula". Hemoglobin 21 3 (1997): 261-269. http://www.scopus.com/inward/record.url?eid=2-s2.0-8244250127&partnerID=MN8TOARS.
    10.3109/03630269708997387
Capítulo de livro
  1. Bento, C. "Capitulo 1: Eritropoyesis". In ERITROPATOLOGIA. Espanha: Ambos Marketing Services, Barcelona, 2017.
    Publicado
  2. Bento, C. "Capitulo 7: Eritrocitosis Congénitas". In Eritropatologia. Espanha: Ambos Marketing Services, Barcelona, 2017.
    Publicado
  3. Bento, C. "Primary Familial and Congenital Polycythemia". In GENEREVIEWS. Estados Unidos: Seattle (WA): University of Washington, Seattle; 1993-2019, 2016.
    Publicado
  4. Bento, C. "Capítulo 30: Estudio molecular de las hemoglobinopatías y talasemias". In GENÉTICA HEMATOLÓGICA - MANUAL PRÁCTICO. Espanha: Ambos Marketing Services, Barcelona, 2016.
    Publicado
  5. Bento, C. "Capítulo 36: Eritrocitosis Congénitas". In GENÉTICA HEMATOLÓGICA - MANUAL PRÁCTICO. Espanha: Ambos Marketing Services, Barcelona, 2016.
    Publicado
Edição de livro
  1. Bento, C. CONGENITAL ERYTHROCYTOSIS AND HEREDITARY THROMBOCYTOSIS: CLINICAL PRESENTATION, DIAGNOSIS, TREATMENT AND FOLLOW-UP. MPN&MPNr-Euronet COST Action. 2015.
    Publicado
  2. Bento, C. CURSO DE FORMAÇÃO PARA INTERNOS DE PEDIATRIA. Portugal: Centro de Investigação e Formação Clínica do HPC, Coimbra. 2014.
    Publicado
Tese / Dissertação
  1. Lopes, Andreia Sofia dos Santos. "Genetic basis of congenital Erythrocytosis: search for new mutations and associated genes and update of online databases". Mestrado, 2017. http://hdl.handle.net/10773/22704.
  2. Gameiro, Mariline da Silva. "Caraterização molecular e funcional de variantes alfa de hemoglobina identificadas no Centro Hospitalar e Universitário de Coimbra". Mestrado, 2012. http://hdl.handle.net/10316/25415.

Outros

Outra produção
  1. ITHANET: Information and database community portal for haemoglobinopathies. 2017. Petros Kountouris; Coralea Stephanou; Celeste Bento; Pavlos Fanis; Jacques Elion; Raj S Ramesar; Bin Alwi Zilfalil; et al. https://doi.org/10.1101/209361.
    10.1101/209361

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2020 Impacto del Diagnóstico Molecular en Hematología: Serie Roja LXII Congreso Nacional de la SEHH Y XXXVI Congreso Nacional de la SETH, Virtual, 2020 LXII Congreso Nacional de la SEHH Y XXXVI Congreso Nacional de la SETH
(Pamplona, Espanha)
2019 Novel Insights in the Molecular Characterization of Congenital Erythrocytosis Belgrado, Sérvia, Maio, 2019 14th Meeting of the MPN&MPNr-EuroNet
(Belgrado)
2019 Hemoglobinopathies update – Portugal Conference on Global Globin 2020 Challenge
Unesco (Paris, França)
2019 Variant Scoring Based on ClinGen Tools and Haemoglobinopathy-specific Criteria Conference on Global Globin 2020 Challenge
Unesco (Paris, França)
2019 Towards harmonization of Diagnosis of PK deficiency in EU - Portugal 2nd PKD Diagnostics Advisory Board Meeting for PK deficiency
(Paris, França)
2019 A mais-valia da Next Generation Sequencing (NGS) no diagnóstico de doenças hematológicas congénitas: Anemias congénitas. Reunião Genes, populações e doenças: Contributo da sequenciação de nova geração para o diagnóstico molecular.
CIAS,
2018 Congenital Erythrocytosis XXXIst International Symposium on Technological Innovations in Laboratory Hematology
(Bruxelas, Bélgica)
2018 Eritrocitosis congénitas. Clasificación y diagnóstico Advances en Hematologia – Formación Continuada
(Madrid, Espanha)
2017 Diagnosis of congenital hemolytic anemia in the era of NGS 10th Conference of African Society of Human Genetics
(Cairo, Egipto)
2017 Newborn Screening Sickle Cell Disorders: Portugal Pan-European Consensus Conference on NBS for Haemoglobinopathies
(Berlim, Alemanha)
2016 Congenital hemolytic anemia study with a targeted NGS panel Clinical Interpretation of Variants from NGS: The 2016 Scientific Meeting of the Human Genome Variation Society Barcelona, Espanha, 2016 Clinical Interpretation of Variants from NGS: The 2016 Scientific Meeting of the Human Genome Variation Society
Human Genome Variation Society (Barcelona, Espanha)
2015 NGS: new mutations and genes Zagreb, Croácia, 2015 MPN&MPNr-EuroNet Tenth Meeting
MPN&MPNr-EuroNet (Croacia)

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação) 		Instituição / Organização
2019 - Atual Dia D da Drepanocitose (2019)
Conferência (Presidente da Comissão Organizadora)
 Associaçao Portuguesa de Pais e Doentes com Hemoglobinopatias, Portugal
2014 - Atual Training School on Congenital Erythrocytosis MPN&MPNr-EuroNet Barcelona, Espanha, 2014 (2014)
Conferência
 MPN&MPNr-EuroNet , França
2013 - Atual Mesa Redonda: Human Variome Project/UNESCO (2013)
Mesa-redonda (Presidente da Comissão Organizadora)
 Sociedade Portuguesa de Genética Humana, Portugal

Júri de grau académico

Tema
Tipo de participação 		Nome do candidato (Tipo de grau)
Instituição / Organização
2020 Assessing the role of genetic variations at the ß–globin gene cluster in levels of fetal hemoglobin
Arguente principal
 Catarina Rocha Pacheco (Mestrado)
Universidade do Porto, Portugal
2017 Bases genéticas da Eritrocitose Congénita
Arguente principal
 Andreia Sofia dos Santos Lopes (Mestrado)
Universidade de Aveiro, Portugal
2013 Caracterização molecular de anemias hipocrómicas e microcíticas com hemoglobina A2 normal
Orientador
 Ana Catarina Oliveira (Mestrado)
Instituto Politécnico de Coimbra Escola Superior de Tecnologia da Saúde de Coimbra, Portugal
2012 Caraterização molecular e funcional de variantes alfa de hemoglobina identificadas no Centro Hospitalar e Universitário de Coimbra
Orientador
 Mariline da Silva Gameiro (Mestrado)
Universidade de Coimbra, Portugal

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2021 - Atual Avaliação das alterações do glóbulo vermelho Mestrado em Análises Clínicas Universidade de Coimbra Faculdade de Farmácia, Portugal
2019 - Atual Technical basis and principle of Sanger sequencing 4th Course Basics in Human Genetic Diagnostics – A course for CLGs in education European Society of Human Genetics , França
2018 - Atual From genotype to phenotype - Nomenclature in molecular biology Programa de doutoramento em Ciências da Saúde Universidade de Coimbra Faculdade de Medicina, Portugal
2018 - Atual Seminário Nomenclatura em Biologia Molecular Curso teórico-prático em Citogenética e Genómica Universidade de Coimbra Faculdade de Medicina, Portugal

Membro de associação

Nome da associação Tipo de participação
2017 - Atual Human Variome Project - Global Globin 2020 Fundador e membro da direcção
2012 - Atual Associação Portuguesa de Pais e Doentes com Hemoglobinopatias (APPDH)
2012 - Atual MPN&MPNr – Euronet Representante nacional e Co-Chair de WG
2010 - Atual Centro Investigação e Formação Clínica do Hospital Pediátrico de Coimbra Fundador e membro da direcção
1995 - Atual Sociedade Portuguesa de Genética Humana Sócio fundador

Outro júri / avaliação

Descrição da atividade Instituição / Organização
2015 - Atual Revisor da French National Research Agency (Agence Nationale de la Recherche (ANR)), Paris, França Agence Nationale de la Recherche (ANR), França