Sousa M - 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: sousa m. 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

Quantitative study of caspase-3 activity in semen and after swim-up preparation in relation to sperm quality.

Almeida C, Cardoso MF, Sousa M, Viana P, Gonçalves A, Silva J, Barros A. Almeida C, et al. Among authors: sousa m. Hum Reprod. 2005 May;20(5):1307-13. doi: 10.1093/humrep/deh727. Epub 2005 Mar 10. Hum Reprod. 2005. PMID: 15760967

3

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: sousa m. Twin Res Hum Genet. 2011 Jun;14(3):221-7. doi: 10.1375/twin.14.3.221. Twin Res Hum Genet. 2011. PMID: 21623651

4

DNA fragmentation in human sperm after magnetic-activated cell sorting.

Bucar S, Gonçalves A, Rocha E, Barros A, Sousa M, Sá R. Bucar S, et al. Among authors: sousa m. J Assist Reprod Genet. 2015 Jan;32(1):147-54. doi: 10.1007/s10815-014-0370-5. Epub 2014 Nov 6. J Assist Reprod Genet. 2015. PMID: 25374393 Free PMC article.

5

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M. Oliveira J, et al. Among authors: sousa m. J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub 2015 Mar 5. J Hum Genet. 2015. PMID: 25740612

6

Mutation analysis in patients with total sperm immotility.

Pereira R, Oliveira J, Ferraz L, Barros A, Santos R, Sousa M. Pereira R, et al. Among authors: sousa m. J Assist Reprod Genet. 2015 Jun;32(6):893-902. doi: 10.1007/s10815-015-0474-6. Epub 2015 Apr 16. J Assist Reprod Genet. 2015. PMID: 25877373 Free PMC article.

7

Is Magnetic-Activated Cell Sorting an Efficient Technique in Reducing Human Sperm DNA Fragmentation?

Bucar S, Gonçalves A, Barros A, Sousa M, Sá R. Bucar S, et al. Among authors: sousa m. Microsc Microanal. 2015 Aug;21 Suppl 5:63-4. doi: 10.1017/S1431927615014129. Microsc Microanal. 2015. PMID: 26227712 No abstract available.

8

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: sousa m. 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

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: sousa m. J Neuromuscul Dis. 2014;1(2):169-179. J Neuromuscul Dis. 2014. PMID: 27858771

10

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Gonçalves A, Oliveira J, Coelho T, Taipa R, Melo-Pires M, Sousa M, Santos R. Gonçalves A, et al. Among authors: sousa m. Genes (Basel). 2017 Oct 3;8(10):253. doi: 10.3390/genes8100253. Genes (Basel). 2017. PMID: 28972564 Free PMC article.

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