Centro Hospitalar e Universitário de Coimbra, EPE
 Cabeçalho Serviço Hematologia CHC
em português | in english
Publicações
Atypical hemolytic-uremic syndrome: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes.
Marini SC, Gomes M, Guilherme R, Carda JP, Pinto CS, Fidalgo T, Ribeiro ML.
Blood Coagul Fibrinolysis. 2019 Mar;30(2):68-70. doi: 10.1097/MBC.0000000000000793. PMID: 30676336

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P et al
Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25.

A new complement factor B mutation associated with crescentic C3 glomerulopathy; a case report.
1. Coelho SS, Fernandes AR, Soares E, Valério P, Matos B, Romão H, Góis M, Sousa H, Fidalgo T, Natário AS, Barreto C
J Nephropathol. 2019;8(3):7-10. DOI: 10.15171/jnp.2019.30

Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal...
Michiels, JJ, Hansen F, Smejkal P, Fidalgo T, et al.
Acta Scientific Medical Sciences. Acta Scientific, 2019, vol. 3, No 12, p. 140-158. ISSN 2582-0931.

International external quality assurance of JAK2 V617F quantification
Asp, J., Skov, V., Bellosillo, B., Coucelo, M. et al.
Ann Hematol (2019) 98: 1111. https://doi.org/10.1007/s00277-018-3570-8

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference
Lobitz S, Telfer P, Cela E, C Bento et al
Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18.

Portuguese consensus document statement in diagnostic and management of atypical hemolytic uremic syndrome
Ana Azevedo, Bernardo Faria, Catarina Teixeira, Fernanda Carvalho, Gisela Neto, Josefina Santos, Maria do Céu Santos, Nuno Oliveira, Teresa Fidalgo, Joaquim Calado
Port J Nephrol Hypert 2018; 32(3): 211-232

 Download do documento (1,047.81 Kb)
Venous thromboembolism risk associated with ABO, F11 and FGG loci.
Manco L, Silva C, Fidalgo T, Martinho P, Sarmento AB, Ribeiro ML.
Blood Coagul Fibrinolysis. 2018 Sep;29(6):528-532. doi: 10.1097/MBC.0000000000000753.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Lenglet M, Robriquet F, Schwarz K, Bento C et al
Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11.

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.
Navarro D, Azevedo A, Sequeira S, Ferreira AC, Carvalho F, Fidalgo T, Vilarinho L, Santos MC, Calado J, Nolasco F.
CEN Case Rep. 2018 May;7(1):73-76. doi: 10.1007/s13730-017-0298-6. Epub 2018 Jan 2.

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