Bento C - Search Results

1

Hereditary xerocytosis, a misleading anemia.

Del Orbe Barreto R, Arrizabalaga B, De la Hoz Rastrollo AB, García-Orad A, Gonzalez Vallejo I, Bento C, Villegas A, García-Ruiz JC. Del Orbe Barreto R, et al. Among authors: bento c. Ann Hematol. 2016 Sep;95(9):1545-6. doi: 10.1007/s00277-016-2716-9. Epub 2016 Jun 1. Ann Hematol. 2016. PMID: 27250707 No abstract available.

2

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. Del Orbe Barreto R, et al. Among authors: bento c. Int J Lab Hematol. 2016 Dec;38(6):629-638. doi: 10.1111/ijlh.12551. Epub 2016 Jul 17. Int J Lab Hematol. 2016. PMID: 27427187

3

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. Del Orbe Barreto R, et al. Among authors: bento c. Int J Lab Hematol. 2016 Apr;38(2):e27-9. doi: 10.1111/ijlh.12455. Epub 2015 Dec 23. Int J Lab Hematol. 2016. PMID: 26693676 No abstract available.

4

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. Pereira J, et al. Among authors: bento c. Ann Hematol. 2016 Sep;95(9):1551-3. doi: 10.1007/s00277-016-2720-0. Epub 2016 Jun 24. Ann Hematol. 2016. PMID: 27342114 No abstract available.

5

Genetic basis of congenital erythrocytosis.

Bento C. Bento C. Int J Lab Hematol. 2018 May;40 Suppl 1:62-67. doi: 10.1111/ijlh.12828. Int J Lab Hematol. 2018. PMID: 29741264 Review.

6

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. Manco L, et al. Among authors: bento c. Blood Cells Mol Dis. 2016 Sep;60:18-23. doi: 10.1016/j.bcmd.2016.06.002. Epub 2016 Jun 11. Blood Cells Mol Dis. 2016. PMID: 27519939

7

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.

8

Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.

Bento C, Almeida H, Fernandez-Lago C, Ribeiro ML. Bento C, et al. Int J Lab Hematol. 2013 Oct;35(5):e27-8. doi: 10.1111/ijlh.12061. Epub 2013 Mar 22. Int J Lab Hematol. 2013. PMID: 23521759 No abstract available.

9

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

10

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288

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