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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]
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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.
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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.
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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.
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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]
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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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Haemoglobin kenitra identified in a Portuguese man with type 2 diabetes and pheochromocytoma.
Cabral V, Silva Nunes J, Bento C, Sobreira R, Rodrigues I, Shvets R, Silvestre MJ, Barros R
Int J Lab Hematol. 2015 Nov 6. doi: 10.1111/ijlh.12437. [Epub ahead of print]
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New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome.
Lopes D, Gomes AM, Cunha C, Pinto CS, Fidalgo T, Fernandes JC.
Clin Kidney J. 2015 Dec;8(6):695-697. Epub 2015 Oct 9.
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A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.
Tamura S, Tamura T, Gima H, Nishikawa A, Okamoto Y, Kanazawa N, Relvas L, Cunha E, Frances McMullin M, Bento C
Intern Med. 2015;54(18):2389-93. doi: 10.2169/internalmedicine.54.4520. Epub 2015 Sep 15.
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Outcomes of pregnancy in patients with congenital erythrocytosis
Mary F. McMullin, Celeste Bento, Cedric Rossi, M Glenn Rainey, Francois Girodon, Holger Cario
Br J Haematol. 2015 Aug;170(4):586-8.
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