Gonçalves A - Search Results

1

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

Jorge P, Garcia E, Gonçalves A, Marques I, Maia N, Rodrigues B, Santos H, Fonseca J, Soares G, Correia C, Reis-Lima M, Cirigliano V, Santos R. Jorge P, et al. Among authors: goncalves a. BMC Med Genet. 2018 May 10;19(1):74. doi: 10.1186/s12881-018-0589-6. BMC Med Genet. 2018. PMID: 29747568 Free PMC article.

2

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

3

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

4

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

5

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

6

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

7

Samões R, Oliveira J, Taipa R, Coelho T, Cardoso M, Gonçalves A, Santos R, Melo Pires M, Santos M. Samões R, et al. Among authors: goncalves a. J Neuromuscul Dis. 2017;4(1):67-76. doi: 10.3233/JND-160199. J Neuromuscul Dis. 2017. PMID: 28269792

8

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. Genes (Basel). 2017 Oct 3;8(10):253. doi: 10.3390/genes8100253. Genes (Basel). 2017. PMID: 28972564 Free PMC article.

9

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: goncalves a. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.

10

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

Morais S, Oliveira J, Lau C, Pereira M, Gonçalves M, Monteiro C, Gonçalves AR, Matos R, Sampaio M, Cruz E, Freitas I, Santos R, Lima M. Morais S, et al. PLoS One. 2020 Dec 4;15(12):e0235136. doi: 10.1371/journal.pone.0235136. eCollection 2020. PLoS One. 2020. PMID: 33276370 Free PMC article.

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