Lopes-Marques M - Search Results

1

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Cardoso AR, Lopes-Marques M, Oliveira M, Amorim A, Prata MJ, Azevedo L. Cardoso AR, et al. Among authors: lopes marques m. Genes (Basel). 2021 Nov 19;12(11):1827. doi: 10.3390/genes12111827. Genes (Basel). 2021. PMID: 34828433 Free PMC article. Review.

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. 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. 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

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. Hum Genomics. 2019 Jul 9;13(1):31. doi: 10.1186/s40246-019-0216-4. Hum Genomics. 2019. PMID: 31288856 Free PMC article. Review.

5

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. Sci Rep. 2020 Jul 14;10(1):11565. doi: 10.1038/s41598-020-68106-y. Sci Rep. 2020. PMID: 32665690 Free PMC article.

6

SLC35A2-CDG: Novel variant and review.

Quelhas D, Correia J, Jaeken J, Azevedo L, Lopes-Marques M, Bandeira A, Keldermans L, Matthijs G, Sturiale L, Martins E. Quelhas D, et al. Mol Genet Metab Rep. 2021 Jan 30;26:100717. doi: 10.1016/j.ymgmr.2021.100717. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552911 Free PMC article.

7

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Lopes-Marques M, Pacheco AR, Peixoto MJ, Cardoso AR, Serrano C, Amorim A, Prata MJ, Cooper DN, Azevedo L. Lopes-Marques M, et al. Hum Mutat. 2021 Aug;42(8):978-989. doi: 10.1002/humu.24221. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34015158 Free PMC article.

8

Compensatory epistasis explored by molecular dynamics simulations.

Serrano C, Teixeira CSS, Cooper DN, Carneiro J, Lopes-Marques M, Stenson PD, Amorim A, Prata MJ, Sousa SF, Azevedo L. Serrano C, et al. Hum Genet. 2021 Sep;140(9):1329-1342. doi: 10.1007/s00439-021-02307-x. Epub 2021 Jun 26. Hum Genet. 2021. PMID: 34173867

9

Assessing the effects of PMM2 variants on protein stability.

Quelhas D, Carneiro J, Lopes-Marques M, Jaeken J, Martins E, Rocha JF, Teixeira Carla SS, Ferreira CR, Sousa SF, Azevedo L. Quelhas D, et al. Among authors: lopes marques m. Mol Genet Metab. 2021 Dec;134(4):344-352. doi: 10.1016/j.ymgme.2021.11.002. Epub 2021 Nov 8. Mol Genet Metab. 2021. PMID: 34863624

10

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na _V 1.5).

Lopes-Marques M, Silva R, Serrano C, Gomes V, Cardoso A, Prata MJ, Amorim A, Azevedo L. Lopes-Marques M, et al. PeerJ. 2022 Aug 17;10:e13913. doi: 10.7717/peerj.13913. eCollection 2022. PeerJ. 2022. PMID: 35996667 Free PMC article.

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