Gonçalves A - 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. 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: goncalves a. Hum Reprod. 2005 May;20(5):1307-13. doi: 10.1093/humrep/deh727. Epub 2005 Mar 10. Hum Reprod. 2005. PMID: 15760967

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: goncalves a. 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

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: goncalves a. 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

5

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children.

Madureira C, Cunha M, Sousa M, Neto AP, Pinho MJ, Viana P, Gonçalves A, Silva J, Teixeira da Silva J, Oliveira C, Ferraz L, Dória S, Carvalho F, Barros A. Madureira C, et al. Among authors: goncalves a. Andrology. 2014 Jul;2(4):623-31. doi: 10.1111/j.2047-2927.2014.00231.x. Andrology. 2014. PMID: 24954116 Free article.

6

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: goncalves a. 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

7

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: goncalves a. 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.

8

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. 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

9

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: goncalves a. Microsc Microanal. 2015 Aug;21 Suppl 5:63-4. doi: 10.1017/S1431927615014129. Microsc Microanal. 2015. PMID: 26227712 No abstract available.

10

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: goncalves a. 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

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