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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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Polymorphic variations influencing fetal hemoglobin levels: Association study in beta thalassemia carriers and in normal individuals of Portuguese origin Clara Pereira, Luís Relvas, Celeste Bento, Augusto Abade, M. Letícia Ribeiro, Licínio Manco.
Blood Cells, Molecules and Diseases 54 (2015) 315–320
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Jenny C Taylor, Hilary C Martin,… Celeste Bento, et al.
Nat Genet. 2015 Jul;47(7):717-26.
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Attention! Haemoglobin Monroe is a silent thalassaemic haemoglobinopathy. Celeste Bento, Ana Catarina Oliveira, Luis Relvas, Carlos Fernandez- Lago, M João Palaré, M Leticia Ribeiro
BloodMed - Continuing Education, 2015
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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.
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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
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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]
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