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1

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.,

Journal:

European Journal of Haematology

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

2

Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin

Pereira, Clara, Relvas, Luís, Bento, Celeste, Abade, Augusto, Ribeiro, M. Letícia, Manco, Licínio

Journal:

Blood Cells, Molecules, and Diseases

Year:

2015

Language:

english

File:

PDF, 511 KB

english, 2015

3

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Lobitz, Stephan, Telfer, Paul, Cela, Elena, Allaf, Bichr, Angastiniotis, Michael, Backman Johansson, Carolina, Badens, Catherine, Bento, Celeste, Bouva, Marelle J., Canatan, Duran, Charlton, Matthew,

Journal:

British Journal of Haematology

Year:

2018

Language:

english

File:

PDF, 158 KB

english, 2018

4

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Bento, Celeste, Percy, Melanie J., Gardie, Betty, Maia, Tabita Magalhães, van Wijk, Richard, Perrotta, Silverio, Della Ragione, Fulvio, Almeida, Helena, Rossi, Cedric, Girodon, François, Åström, Maria

Journal:

Year:

2014

Language:

english

File:

PDF, 516 KB

english, 2014

5

Evidence for epistasis betweenSLC6A4andITGB3in autism etiology and in the determination of platelet serotonin levels

Ana M. Coutinho, Inês Sousa, Madalena Martins, Catarina Correia, Teresa Morgadinho, Celeste Bento, Carla Marques, Assunção Ataíde, Teresa S. Miguel, Jason H. Moore, Guiomar Oliveira, Astrid M. Vicente

Journal:

Year:

2007

Language:

english

File:

PDF, 277 KB

english, 2007

6

Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras

Gross, Mor, Ben-Califa, Nathalie, McMullin, Mary F., Percy, Melanie J., Bento, Celeste, Cario, Holger, Minkov, Milen, Neumann, Drorit

Journal:

British Journal of Haematology

Year:

2014

Language:

english

File:

PDF, 386 KB

english, 2014

7

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

Manco, Licínio, Bento, Celeste, Victor, Bruno L., Pereira, Janet, Relvas, Luís, Brito, Rui M., Seabra, Carlos, Maia, Tabita M., Ribeiro, M. Letícia

Journal:

Blood Cells, Molecules, and Diseases

Year:

2016

Language:

english

File:

PDF, 924 KB

english, 2016

8

Congenital dyserythropoietic anemia associated to aGATA1mutation aggravated by pyruvate kinase deficiency

Pereira, Janet, Bento, Celeste, Manco, Licinio, Gonzalez, Ataulfo, Vagace, Jose, Ribeiro, Maria Letícia

Journal:

Annals of Hematology

Year:

2016

Language:

english

File:

PDF, 967 KB

english, 2016

9

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach

Cario, Holger, Frances McMullin, Mary, Bento, Celeste, Pospisilova, Dagmar, Percy, Melanie J., Hussein, Kais, Schwarz, Jiri, Åström, Maria, Hermouet, Sylvie

Journal:

Pediatric Blood & Cancer

Year:

2013

Language:

english

File:

PDF, 292 KB

english, 2013

10

The role of PHD2 mutations in the pathogenesis of erythrocytosis

Gardie, Betty, Percy, Melanie J., Hoogewijs, David, Chowdhury, Rasheduzzaman, Bento, Celeste, McMullin, Mary Frances, Schofield, Christopher J., Lee, Frank S., Richard, Stephane, Arsenault, Patrick, A

Journal:

Year:

2014

Language:

english

File:

PDF, 8.11 MB

english, 2014

11

Consequences at mrna level of the pklr gene splicing mutations IVS10(+1)G→C and IVS8(+2)T→G causing pyruvate kinase deficiency

Licínio Manco, Celeste Bento, M. Letícia Ribeiro, Gabriel Tamagnini

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

12

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, Frances McMullin, Mary, Bento, Celeste

Journal:

Internal Medicine

Year:

2015

Language:

english

File:

PDF, 457 KB

english, 2015

13

Hemoglobinopathies, Country Update: Portugal

Journal:

Year:

2019

File:

PDF, 482 KB

2019

14

A novel haemoglobin variant mimicking cyanotic congenital heart disease

Abecasis, Francisco, Marques, InÃªs, Bento, Celeste, FerrÃ£o, Anabela

Journal:

BMJ Case Reports

Year:

2016

File:

PDF, 301 KB

2016

15

A Triazole Hybrid of Neolignans as a Potential Antileishmanial Agent by Triggering Mitochondrial Dysfunction

Cardozo Pinto de Arruda, Carla, de Jesus Hardoim, Daiana, Silva Rizk, Yasmin, da Silva Freitas de Souza, Celeste, Zaverucha do Valle, Tânia, Bento Carvalho, Diego, Nosomi Taniwaki, Noemi, de Morais Ba

Journal:

Year:

2019

Language:

english

File:

PDF, 3.37 MB

english, 2019

16

Transient Neonatal Cyanosis Associated With a New Hb F Variant

Bento, Celeste, Magalhães Maia, Tabita, Carvalhais, Ines, Moita, Filipa, Abreu, Gabriela, Relvas, Luis, Pereira, Alexandra, Farela Neves, José, Ribeiro, Maria L.

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2013

Language:

english

File:

PDF, 195 KB

english, 2013

17

Complex inheritance of chronic haemolytic anaemia

Rita Coutinho, Celeste Bento, Helena Almeida, Elisabete Cunha, Licínio Manco, Fátima Ferreira, M. Letícia Ribeiro

Journal:

British Journal of Haematology

Year:

2009

Language:

english

File:

PDF, 80 KB

english, 2009

18

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

Journal:

International Journal of Hematology

Year:

2014

Language:

english

File:

PDF, 405 KB

english, 2014

19

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

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

Journal:

Clinical Case Reports

Year:

2018

Language:

english

File:

PDF, 387 KB

english, 2018

20

With Deep Appreciation

Coucelo, Margarida, Caetano, Gonçalo, Sevivas, Teresa, Almeida Santos, Susana, Fidalgo, Teresa, Bento, Celeste, Fortuna, Manuela, Duarte, Marta, Menezes, Cristina, Ribeiro, M. Letícia

Journal:

Academic Psychiatry

Year:

2001

Language:

english

File:

PDF, 45 KB

english, 2001

21

High Prevalence of Hemoglobin Disorders and Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Republic of Guinea (West Africa)

Millimono, Tamba S., Loua, Kovana M., Rath, Silvia L., Relvas, Luis, Bento, Celeste, Diakite, Mandiou, Jarvis, Martin, Daries, Nathalie, Ribeiro, Leticia M., Manco, Licínio, Kaeda, Jaspal S.

Journal:

Year:

2012

Language:

english

File:

PDF, 205 KB

english, 2012

22

Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)GC and IVS8(+2)TG causing pyruvate kinase deficiency

Manco, Licinio, Bento, Celeste, Ribeiro, M. Leticia, Tamagnini, Gabriel

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 98 KB

english, 2002

23

Multi-Locus Models to Address Hb F Variability in Portuguese Î²-Thalassemia Carriers

Manco, LicÃnio, Bento, Celeste, Relvas, LuÃs, Cunha, Elisabete, Pereira, Janet, Moreira, Valeria, Alvarez, Manuela, Maia, Tabita, Ribeiro, M. LetÃcia

Journal:

Year:

2020

File:

PDF, 1.01 MB

2020

24

Outcomes of pregnancy in patients with congenital erythrocytosis

McMullin, Mary F., Bento, Celeste, Rossi, Cedric, Rainey, M Glenn, Girodon, Francois, Cario, Holger

Journal:

British Journal of Haematology

Year:

2015

Language:

english

File:

PDF, 60 KB

english, 2015

25

Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease

Licínio Manco, José Manuel Vagace, Luís Relvas, Umbelina Rebelo, Celeste Bento, Ana Villegas, Maria Letícia Ribeiro

Journal:

European Journal of Haematology

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

26

Hb Iberia [ α 104(G11)Cys → Arg, T GC> C GC ( α 2) (HBA2:c.313T>C)], a New α -Thalassemic Hemoglobin Variant Found in the Iberian Peninsula: Report of Six Cases

Bento, Celeste, Oliveira, Ana Catarina, Neves, Joana, Gameiro, Mariline, Cunha, Elizabete, Coucelo, Margarida, Costa, Ricardo Marques, Barbot, José, Costa, Emilia, Fernández-Lago, Carlos, Ribeiro, M.

Journal:

Year:

2012

Language:

english

File:

PDF, 439 KB

english, 2012

27

Clinical relevance of erythrocyte ferritin in microcytic anemias

Vagace, Jose M., Peças, Antonio, Groiss, Jorge, Bento, Celeste, Ribeiro, Maria Leticia, Gervasini, Guillermo

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 638 KB

english, 2015

28

Autoantibody repertoires to brain tissue in autism nuclear families

Susana C Silva, Catarina Correia, Constantin Fesel, Marta Barreto, Ana M Coutinho, Carla Marques, Teresa S Miguel, Assunção Ataide, Celeste Bento, Luis Borges, Guiomar Oliveira, Astrid M Vicente

Journal:

Journal of Neuroimmunology

Year:

2004

Language:

english

File:

PDF, 298 KB

english, 2004

29

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman

Licínio Manco, Janet Pereira, Luís Relvas, Umbelina Rebelo, Ana Isabel Crisóstomo, Celeste Bento, M. Letícia Ribeiro

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

30

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

TOSTE, SANDRA, RELVAS, LUÍS, PINTO, CATARINA, BENTO, CELESTE, ABADE, AUGUSTO, RIBEIRO, M. LETÍCIA, MANCO, LICÍNIO

Journal:

Journal of Genetics

Year:

2015

Language:

english

File:

PDF, 179 KB

english, 2015

31

Hb Plasencia [ α 125(H8)Leu→Arg ( α 2)] is a Frequent Cause of α + -Thalassemia in the Portuguese Population

Cunha, Elizabete, Bento, Celeste, Oliveira, Ana, Relvas, Luís, Neves, Joana, Gameiro, Mariline, Barros, Cristina, Araújo, Ana, Macedo, Ana, Rocha, Paula, Costa, Ricardo, Maia, Tabita, Ribeiro, M. Letí

Journal:

Year:

2013

Language:

english

File:

PDF, 147 KB

english, 2013

32

Variant Scoring Based on ClinGen Tools and Hemoglobinopathy-Specific Criteria

Bento, Celeste, Kountouris, Petros, Stephanou, Coralea, Lederer, Carsten W., Kleanthous, Marina

Journal:

Year:

2019

File:

PDF, 703 KB

2019

33

Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury

Catré, Dora, Lopes, Maria Francelina, Bento, Celeste, Cabrita, António Silvério

Journal:

Acta Cirurgica Brasileira

Year:

2011

File:

PDF, 1.20 MB

2011

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