Oliveira J - Search Results

1

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Oliveira J, Soares-Silva I, Fokkema I, Gonçalves A, Cabral A, Diogo L, Galán L, Guimarães A, Fineza I, den Dunnen JT, Santos R. Oliveira J, et al. J Hum Genet. 2008;53(6):565-572. doi: 10.1007/s10038-008-0263-5. Epub 2008 Mar 11. J Hum Genet. 2008. PMID: 18330676

2

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.

Costa E, Duque F, Oliveira J, Garcia P, Gonçalves I, Diogo L, Santos R. Costa E, et al. Among authors: oliveira j. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):96-101. doi: 10.1016/j.bcmd.2007.02.002. Epub 2007 Mar 21. Blood Cells Mol Dis. 2007. PMID: 17376717 Free article.

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: oliveira me. 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

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: oliveira j. 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

5

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.

Oliveira J, Dias C, Redeker E, Costa E, Silva J, Reis Lima M, den Dunnen JT, Santos R. Oliveira J, et al. Hum Mutat. 2010 Nov;31(11):1216-22. doi: 10.1002/humu.21352. Hum Mutat. 2010. PMID: 20824775

6

New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.

Gonçalves-Rocha M, Oliveira J, Rodrigues L, Santos R. Gonçalves-Rocha M, et al. Among authors: oliveira j. Genet Test Mol Biomarkers. 2011 May;15(5):319-26. doi: 10.1089/gtmb.2010.0164. Epub 2011 Feb 17. Genet Test Mol Biomarkers. 2011. PMID: 21329463

7

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.

8

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.

Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I. Costa C, et al. Among authors: oliveira j. Neuromuscul Disord. 2013 Jul;23(7):557-61. doi: 10.1016/j.nmd.2013.03.005. Epub 2013 Apr 11. Neuromuscul Disord. 2013. PMID: 23582336

9

Variobox: automatic detection and annotation of human genetic variants.

Gaspar P, Lopes P, Oliveira J, Santos R, Dalgleish R, Oliveira JL. Gaspar P, et al. Among authors: oliveira j, oliveira jl. Hum Mutat. 2014 Feb;35(2):202-7. doi: 10.1002/humu.22474. Epub 2013 Nov 21. Hum Mutat. 2014. PMID: 24186831

10

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 j, 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.

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