Centro Hospitalar e Universitário de Coimbra, EPE
 Cabeçalho Serviço Hematologia CHC
em português | in english
Publicações
Intragenic haplotype analysis of common HFE mutations in the Portuguese population
Toste S, Relvas L, Pinto C, Bento C, Abade A, Ribeiro ML, Manco L.
J Genet. 2015 Jun;94(2):329-33.

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
Celeste Bento and Janet Pereira co-authors as contributors to the EMQN haemoglobinopathies best practice meeting.
European Journal of Human Genetics (2015) 23, 426–437

Clinical relevance of erythrocyte ferritin in microcytic anemias
Vagace JM, Peças A, Groiss J, Bento C, Ribeiro ML, Gervasini G
Clin Chim Acta. 2015 Jan 3;442C:1-5. doi: 10.1016/j.cca.2014.12.035. [Epub ahead of print]

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study
Teresa Fidalgo, Patrícia Martinho, Ramon Salvado, Licínio Manco, Ana C. Oliveira, Catarina S. Pinto, Elsa Gonçalves, Dalila Marques, Teresa Sevivas, Natália Martins and Maria Letícia Ribeiro
Eur J Haematol. 2014 Dec 22. [Epub ahead of print]

The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.
Satchwell TJ, Hawley BR, Bell AJ, Ribeiro ML, Toye AM
Haematologica. 2014 Oct 24

Erythrocytosis associated with a novel missense mutation in the BPGM gene.
Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium, Ratcliffe PJ, Robbins PA, McMullin MF.
Haematologica October 2014 99: e201-e204

Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.
Gross M, Ben-Califa N, McMullin MF, Percy MJ, Bento C, Cario H, Minkov M, Neumann D
Br J Haematol. 2014 May;165(4):519-28. doi: 10.1111/bjh.12782. Epub 2014 Feb 18

Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, et al
Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.

JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients
Margarida Coucelo, Gonçalo Caetano, Teresa Sevivas, Susana Almeida Santos, Teresa Fidalgo, Celeste Bento, Manuela Fortuna, Marta Duarte, Cristina Menezes, M. Letícia Ribeiro
Int J Hematol 2014, DOI 10.1007/s12185-013-1475-9 [Epub 2013 Nov 26]

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)?)
Celeste Bento, Helena Almeida, Tabita Magalhães Maia, Luís Relvas, Ana Catarina Oliveira, Cédric Rossi, François Girodon, Carlos Fernandez-Lago, Ascension Aguado-Diaz, Cristina Fraga5, Ricardo Marques
Eur J Haematol, 2013

< anterior 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 seguinte >
 
Euro Blood Net
Videos hemoglobinopatias / Haemoglobinopathies videos
destaque 4
Pedidos de Análise
Forum Hematológico
ISO9001 | IQNet