Ribeiro ML - Search Results

1

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: ribeiro ml. 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

2

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

Bento C, Almeida H, Fernandez-Lago C, Ribeiro ML. Bento C, et al. Among authors: ribeiro ml. 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.

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: ribeiro ml. 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: ribeiro ml. 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

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. Jaouani M, et al. Among authors: ribeiro ml. Int J Lab Hematol. 2017 Apr;39(2):223-231. doi: 10.1111/ijlh.12610. Epub 2017 Jan 30. Int J Lab Hematol. 2017. PMID: 28133914

6

PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.

Manco L, Ribeiro ML, Almeida H, Freitas O, Abade A, Tamagnini G. Manco L, et al. Among authors: ribeiro ml. Br J Haematol. 1999 Jun;105(3):591-5. doi: 10.1046/j.1365-2141.1999.01387.x. Br J Haematol. 1999. PMID: 10354117 Free article.

7

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

Manco L, Ribeiro ML, Máximo V, Almeida H, Costa A, Freitas O, Barbot J, Abade A, Tamagnini G. Manco L, et al. Among authors: ribeiro ml. Br J Haematol. 2000 Sep;110(4):993-7. doi: 10.1046/j.1365-2141.2000.02283.x. Br J Haematol. 2000. PMID: 11054094 Free article.

8

Gene symbol: NT5C3. Disease: haemolytic anemia.

Manco L, Pereira J, Bento MC, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Hum Genet. 2005 Dec;118(3-4):534. doi: 10.1007/s00439-005-0040-x. Hum Genet. 2005. PMID: 16402212 No abstract available.

9

Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency.

Manco L, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Hum Genet. 2007 Jun;121(5):646. Hum Genet. 2007. PMID: 17879434 No abstract available.

10

Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.

Manco L, Ribeiro ML. Manco L, et al. Among authors: ribeiro ml. Hum Genet. 2007 Jun;121(5):650. Hum Genet. 2007. PMID: 17879449 No abstract available.

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