Azevedo L - Search Results

1

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M, Peixoto MJ, Cooper DN, Prata MJ, Azevedo L, Castro LFC. Lopes-Marques M, et al. Among authors: azevedo l. Hum Genet. 2024 Dec;143(12):1465-1479. doi: 10.1007/s00439-024-02715-9. Epub 2024 Nov 2. Hum Genet. 2024. PMID: 39488654 Free PMC article.

2

Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region.

Lopes-Marques M, Pereira-Castro I, Amorim A, Azevedo L. Lopes-Marques M, et al. Among authors: azevedo l. DNA Cell Biol. 2012 Apr;31(4):427-33. doi: 10.1089/dna.2011.1391. Epub 2011 Nov 4. DNA Cell Biol. 2012. PMID: 22054066 Free PMC article.

3

Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains.

Lopes-Marques M, Igrejas G, Amorim A, Azevedo L. Lopes-Marques M, et al. Among authors: azevedo l. Biochem Biophys Res Commun. 2012 May 11;421(3):409-12. doi: 10.1016/j.bbrc.2012.04.033. Epub 2012 Apr 10. Biochem Biophys Res Commun. 2012. PMID: 22521883 Review.

4

The evolutionary portrait of metazoan NAD salvage.

Carneiro J, Duarte-Pereira S, Azevedo L, Castro LF, Aguiar P, Moreira IS, Amorim A, Silva RM. Carneiro J, et al. Among authors: azevedo l. PLoS One. 2013 May 28;8(5):e64674. doi: 10.1371/journal.pone.0064674. Print 2013. PLoS One. 2013. PMID: 23724078 Free PMC article.

5

NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples.

Duarte-Pereira S, Silva SS, Azevedo L, Castro L, Amorim A, Silva RM. Duarte-Pereira S, et al. Among authors: azevedo l. Sci Rep. 2014 Sep 9;4:6311. doi: 10.1038/srep06311. Sci Rep. 2014. PMID: 25201160 Free PMC article.

6

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.

Azevedo L, Serrano C, Amorim A, Cooper DN. Azevedo L, et al. Hum Genomics. 2015 Sep 4;9(1):21. doi: 10.1186/s40246-015-0043-1. Hum Genomics. 2015. PMID: 26337052 Free PMC article. Review.

7

Improving the in silico assessment of pathogenicity for compensated variants.

Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, Cooper DN. Azevedo L, et al. Eur J Hum Genet. 2016 Jan;25(1):2-7. doi: 10.1038/ejhg.2016.129. Epub 2016 Oct 5. Eur J Hum Genet. 2016. PMID: 27703146 Free PMC article.

8

Essential genetic findings in neurodevelopmental disorders.

Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, Azevedo L. Cardoso AR, et al. Among authors: azevedo l. Hum Genomics. 2019 Jul 9;13(1):31. doi: 10.1186/s40246-019-0216-4. Hum Genomics. 2019. PMID: 31288856 Free PMC article. Review.

9

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Among authors: azevedo l. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

10

GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution.

Lopes-Marques M, Serrano C, Cardoso AR, Salazar R, Seixas S, Amorim A, Azevedo L, Prata MJ. Lopes-Marques M, et al. Among authors: azevedo l. Sci Rep. 2020 Jul 14;10(1):11565. doi: 10.1038/s41598-020-68106-y. Sci Rep. 2020. PMID: 32665690 Free PMC article.

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