Centro Hospitalar e Universitário de Coimbra, EPE
 Cabeçalho Serviço Hematologia CHC
em português | in english
Publicações
Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
Jaouani M, Manco L, Kalai M, Chaouch L, Douzi K, Silva A, Macedo S, Darragi I, Boudriga I, Chaouachi D, Fitouri Z, Van Wijk R, Ribeiro ML, Abbes S.
Int J Lab Hematol. 2017 Jan 30. doi: 10.1111/ijlh.12610. [Epub ahead of print]

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C, Petousi N, Bento C, Cario H, Copley RR, McMullin MF, van Wijk R, Ratcliffe PJ, Robbins PA, Taylor JC; WGS500 Consortium.
Haematologica. 2016 Nov;101(11):1306-1318. Epub 2016 Sep 20

Primary Familial and Congenital Polycythemia.
Bento C, McMullin MF, Percy M, Cario H.
2016 Nov 10. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
Sousa R, Gonçalves C, Guerra IC, Costa E, Fernandes A, do Bom Sucesso M, Azevedo J, Rodriguez A, Rius R, Seabra C, Ferreira F, Ribeiro L, Ferrão A, Castedo S, Cleto E, Coutinho J, Carvalho F, Barbot J
Orphanet J Rare Dis. 2016 Jul 25;11(1):102. doi: 10.1186/s13023-016-0485-0

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
Del Orbe Barreto R, Arrizabalaga B, De la Hoz AB, García-Orad Á, Tejada MI, Garcia-Ruiz JC, Fidalgo T, Bento C, Manco L, Ribeiro ML.
Int J Lab Hematol. 2016 Jul 17. doi: 10.1111/ijlh.12551. [Epub ahead of print]

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G et al
Thromb Haemost. 2016 Jul 4;116(1):17-31. Epub 2016 Mar 17.

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.
Pereira J, Bento C, Manco L, Gonzalez A, Vagace J, Ribeiro ML.
Ann Hematol. 2016 Jun 24. [Epub ahead of print] No abstract available.

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study
Manco L, Bento C, Victor BL, Pereira J, Relvas L, Brito RM, Seabra C, Maia TM, Ribeiro ML
Blood Cells Mol Dis. 2016 Sep;60:18-23. doi: 10.1016/j.bcmd.2016.06.002. Epub 2016 Jun 11.

Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.
Del Orbe Barreto R, Arrizabalaga B, de la Hoz AB, Aragües P, Garcia-Ruiz JC, Arrieta A, Adán R, Manco L, Macedo-Ribeiro S, Bento C, Ribeiro ML.
Int J Lab Hematol. 2015 Dec 23. doi: 10.1111/ijlh.12455. [Epub ahead of print]

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Garate Z, Quintana-Bustamante O, Crane AM, et al
Stem Cell Reports. 2015 Dec 8;5(6):1053-1066. doi: 10.1016/j.stemcr.2015.10.002. Epub 2015 Nov 5.

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