Santos R - 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. Among authors: santos r. 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: santos r. 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

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. 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

4

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. Among authors: santos r. Hum Mutat. 2010 Nov;31(11):1216-22. doi: 10.1002/humu.21352. Hum Mutat. 2010. PMID: 20824775

5

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: santos r. 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

6

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: santos r, santos m. 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.

7

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: santos r. Hum Mutat. 2014 Feb;35(2):202-7. doi: 10.1002/humu.22474. Epub 2013 Nov 21. Hum Mutat. 2014. PMID: 24186831

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: santos r. 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

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Rocha J, Taipa R, Melo Pires M, Oliveira J, Santos R, Santos M. Rocha J, et al. Among authors: santos r, santos m. Pediatr Neurol. 2014 Aug;51(2):275-8. doi: 10.1016/j.pediatrneurol.2014.04.024. Epub 2014 Apr 28. Pediatr Neurol. 2014. PMID: 24950660

10

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: santos m. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

6,824 results

Search Page

Filters