Vieira E - Search Results

1

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E. Santos R, et al. Among authors: vieira e. J Hum Genet. 2010 Aug;55(8):546-9. doi: 10.1038/jhg.2010.60. Epub 2010 Jun 10. J Hum Genet. 2010. PMID: 20535123

2

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Santos R, Gonçalves A, Oliveira J, Vieira E, Vieira JP, Evangelista T, Moreno T, Santos M, Fineza I, Bronze-da-Rocha E. Santos R, et al. Among authors: vieira e, vieira jp. J Hum Genet. 2014 Aug;59(8):454-64. doi: 10.1038/jhg.2014.54. Epub 2014 Jul 10. J Hum Genet. 2014. PMID: 25007885

3

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E. Oliveira J, et al. Among authors: vieira e. Clin Genet. 2008 Dec;74(6):502-12. doi: 10.1111/j.1399-0004.2008.01068.x. Epub 2008 Jun 11. Clin Genet. 2008. PMID: 18700894

4

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: vieira e, vieira jp. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.

5

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.

Vernengo L, Oliveira J, Krahn M, Vieira E, Santos R, Carrasco L, Negrão L, Panuncio A, Leturcq F, Labelle V, Bronze-da-Rocha E, Mesa R, Pizzarossa C, Lévy N, Rodriguez MM. Vernengo L, et al. Among authors: vieira e. Neuromuscul Disord. 2011 May;21(5):328-37. doi: 10.1016/j.nmd.2011.02.003. Epub 2011 Mar 9. Neuromuscul Disord. 2011. PMID: 21392994

6

Bilirubin dependence on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index.

Rodrigues C, Costa E, Vieira E, Santos R, De Carvalho J, Rocha-Pereira P, Santos-Silva A, Bronze-da-Rocha E. Rodrigues C, et al. Among authors: vieira e. Am J Med Sci. 2012 Feb;343(2):114-118. doi: 10.1097/MAJ.0b013e318223460f. Am J Med Sci. 2012. PMID: 21760472

7

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.

Rodrigues C, Vieira E, Santos R, de Carvalho J, Santos-Silva A, Costa E, Bronze-da-Rocha E. Rodrigues C, et al. Among authors: vieira e. Blood Cells Mol Dis. 2012 Mar 15;48(3):166-72. doi: 10.1016/j.bcmd.2012.01.004. Epub 2012 Feb 9. Blood Cells Mol Dis. 2012. PMID: 22325916 Free article.

8

Bilirubin levels and redox status in a young healthy population.

Rodrigues C, Rocha S, Nascimento H, Vieira E, Santos R, Santos-Silva A, Costa E, Bronze-da-Rocha E. Rodrigues C, et al. Among authors: vieira e. Acta Haematol. 2013;130(1):57-60. doi: 10.1159/000346429. Epub 2013 Mar 6. Acta Haematol. 2013. PMID: 23486163 No abstract available.

9

Adipokine Gene Single-Nucleotide Polymorphisms in Portuguese Obese Adolescents: Associations with Plasma Concentrations of Adiponectin, Resistin, IL-6, IL-1β, and TNF-α.

Nascimento H, Vieira E, Coimbra S, Catarino C, Costa E, Bronze-da-Rocha E, Rocha-Pereira P, Carvalho M, Ferreira Mansilha H, Rêgo C, Dos Santos R, Santos-Silva A, Belo L. Nascimento H, et al. Among authors: vieira e. Child Obes. 2016 Aug;12(4):300-13. doi: 10.1089/chi.2015.0235. Epub 2016 May 9. Child Obes. 2016. PMID: 27159547

10

Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia.

Costa E, Cabeda JM, Vieira E, Pinto R, Pereira SA, Ferraz L, Santos R, Barbot J. Costa E, et al. Among authors: vieira e. Blood. 2000 Feb 15;95(4):1499-501. Blood. 2000. PMID: 10666231 Free article.

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