Bento C - Search Results

1

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)?).

Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML. Bento C, et al. Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20. Eur J Haematol. 2013. PMID: 23859443

2

Genetic heterogeneity of beta-thalassemia in populations of the Iberian Peninsula.

Ribeiro ML, Gonçalves P, Cunha E, Bento C, Almeida H, Pereira J, Núñez GM, Tamagnini GP. Ribeiro ML, et al. Among authors: bento c. Hemoglobin. 1997 May;21(3):261-9. doi: 10.3109/03630269708997387. Hemoglobin. 1997. PMID: 9140722 No abstract available.

3

Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency.

Manco L, Bento C, Ribeiro ML, Tamagnini G. Manco L, et al. Among authors: bento c. Br J Haematol. 2002 Sep;118(3):927-8. Br J Haematol. 2002. PMID: 12181074 Free article. No abstract available.

4

The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants.

Bento C, Relvas L, Vazão H, Campos J, Rebelo U, Ribeiro ML. Bento C, et al. Haematologica. 2006 Nov;91(11):1565. Haematologica. 2006. PMID: 17082015

5

Complex inheritance of chronic haemolytic anaemia.

Coutinho R, Bento C, Almeida H, Cunha E, Manco L, Ferreira F, Ribeiro ML. Coutinho R, et al. Among authors: bento c. Br J Haematol. 2009 Feb;144(4):615-6. doi: 10.1111/j.1365-2141.2008.07479.x. Epub 2008 Nov 22. Br J Haematol. 2009. PMID: 19036089 Free article. No abstract available.

6

Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.

Manco L, Vagace JM, Relvas L, Rebelo U, Bento C, Villegas A, Letícia Ribeiro M. Manco L, et al. Among authors: bento c. Eur J Haematol. 2010 Jan 1;84(1):89-90. doi: 10.1111/j.1600-0609.2009.01353.x. Epub 2009 Sep 16. Eur J Haematol. 2010. PMID: 19758413 Review. No abstract available.

7

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman.

Manco L, Pereira J, Relvas L, Rebelo U, Crisóstomo AI, Bento C, Ribeiro ML. Manco L, et al. Among authors: bento c. Blood Cells Mol Dis. 2011 Apr 15;46(4):288-93. doi: 10.1016/j.bcmd.2011.02.001. Epub 2011 Mar 11. Blood Cells Mol Dis. 2011. PMID: 21397531

8

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.

Bento C, Maia TM, Milosevic JD, Carreira IM, Kralovics R, Ribeiro ML. Bento C, et al. Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8. Haematologica. 2013. PMID: 22875618 Free PMC article. No abstract available.

9

Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.

Bento C, Magalhães Maia T, Carvalhais I, Moita F, Abreu G, Relvas L, Pereira A, Farela Neves J, Ribeiro ML. Bento C, et al. J Pediatr Hematol Oncol. 2013 Mar;35(2):e77-80. doi: 10.1097/MPH.0b013e3182667be3. J Pediatr Hematol Oncol. 2013. PMID: 22935660

10

Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.

Bento C, Oliveira AC, Neves J, Gameiro M, Cunha E, Coucelo M, Costa RM, Barbot J, Costa E, Fernández-Lago C, Ribeiro ML. Bento C, et al. Hemoglobin. 2012;36(6):517-25. doi: 10.3109/03630269.2012.742911. Hemoglobin. 2012. PMID: 23181747

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