Santos R - Search Results

1

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: santos r. Int J Mol Sci. 2021 Dec 22;23(1):59. doi: 10.3390/ijms23010059. Int J Mol Sci. 2021. PMID: 35008485 Free PMC article.

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

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

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. 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. Among authors: santos r. 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: 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

7

Statistical approach to prenatal zygosity assessment following a decade of molecular aneuploidy screening.

Pires S, Nogueira AJ, Pinho O, Delgado T, Sousa M, Santos R, Jorge P. Pires S, et al. Among authors: santos r. Twin Res Hum Genet. 2011 Jun;14(3):221-7. doi: 10.1375/twin.14.3.221. Twin Res Hum Genet. 2011. PMID: 21623651

8

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I. Seixas AI, et al. Among authors: santos r. Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19. Behav Brain Funct. 2011. PMID: 21639881 Free PMC article.

9

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.

10

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

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