Márcia E. Oliveira - Search Results

Year	Number of Results
2002	3
2003	4
2004	1
2006	1
2012	1
2013	1
2014	2
2016	1
2018	1
2019	2
2021	2
2023	2
2024	0

1

VEXAS Syndrome: A Call for Diagnostic Awareness Based on a Case Series of Seven Patients.

R Pinto F, Lamas A, G Oliveira D, E Oliveira M, Faria R. R Pinto F, et al. Among authors: e oliveira m. Acta Med Port. 2023 May 2;36(5):379-380. doi: 10.20344/amp.19687. Epub 2023 Apr 18. Acta Med Port. 2023. PMID: 37071935 Free article. No abstract available.

2

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).

Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R. Gonçalves A, et al. Among authors: oliveira me. Int J Mol Sci. 2021 Dec 22;23(1):59. doi: 10.3390/ijms23010059. Int J Mol Sci. 2021. PMID: 35008485 Free PMC article.

3

X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.

Carvalho A, Costa C, Pinto M, Taipa R, Gonçalves A, Oliveira ME, Ferreira S, Ribeiro JA. Carvalho A, et al. Among authors: oliveira me. J Pediatr Genet. 2021 Jun 1;12(3):258-262. doi: 10.1055/s-0041-1728745. eCollection 2023 Sep. J Pediatr Genet. 2021. PMID: 37575650 Free PMC article.

4

Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis.

Tavares I, Silvano J, Moreira L, Oliveira ME, Silva R, Sampaio S, Costa PP, Lobato L. Tavares I, et al. Among authors: oliveira me. Amyloid. 2019;26(sup1):162-163. doi: 10.1080/13506129.2019.1583196. Amyloid. 2019. PMID: 31343301 No abstract available.

5

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant.

Tavares I, Oliveira ME, Maia N, Moreira L, Castro Lacerda P, Santos J, Santos R, Pinho Costa P, Lobato L. Tavares I, et al. Among authors: oliveira me. Amyloid. 2019;26(sup1):144-145. doi: 10.1080/13506129.2019.1582500. Amyloid. 2019. PMID: 31343282 No abstract available.

6

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: oliveira me. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.

7

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, Machado JC, Medeiros E, Coelho T, Santos M, Santos R, Sousa M. Oliveira J, et al. Among authors: oliveira me. J Hum Genet. 2016 Jun;61(6):497-505. doi: 10.1038/jhg.2016.2. Epub 2016 Feb 4. J Hum Genet. 2016. PMID: 26841830

8

Atypical phenotype in two patients with LAMA2 mutations.

Marques J, Duarte ST, Costa S, Jacinto S, Oliveira J, Oliveira ME, Santos R, Bronze-da-Rocha E, Silvestre AR, Calado E, Evangelista T. Marques J, et al. Among authors: oliveira me. Neuromuscul Disord. 2014 May;24(5):419-24. doi: 10.1016/j.nmd.2014.01.004. Epub 2014 Jan 25. Neuromuscul Disord. 2014. PMID: 24534542 Free article.

9

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

Oliveira J, Gonçalves A, Oliveira ME, Fineza I, Pavanello RC, Vainzof M, Bronze-da-Rocha E, Santos R, Sousa M. Oliveira J, et al. Among authors: oliveira me. J Neuromuscul Dis. 2014;1(2):169-179. J Neuromuscul Dis. 2014. PMID: 27858771

10

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, Baxter P, Santos M, Buermans H, den Dunnen JT, Santos R. Oliveira J, et al. Among authors: oliveira me. Eur J Hum Genet. 2013 May;21(5):540-9. doi: 10.1038/ejhg.2012.201. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968136 Free PMC article.

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