Prata MJ - Search Results

1

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. Among authors: prata mj. 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.

2

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

3

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. Among authors: prata mj. Hum Genet. 2021 Sep;140(9):1329-1342. doi: 10.1007/s00439-021-02307-x. Epub 2021 Jun 26. Hum Genet. 2021. PMID: 34173867

4

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

5

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data.

Alves S, Amorim A, Prata MJ. Alves S, et al. Among authors: prata mj. Hum Genet. 2002 Aug;111(2):172-8. doi: 10.1007/s00439-002-0784-5. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189491

6

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: prata mj. Genes (Basel). 2021 Nov 19;12(11):1827. doi: 10.3390/genes12111827. Genes (Basel). 2021. PMID: 34828433 Free PMC article. Review.

7

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. Among authors: prata mj. PeerJ. 2022 Aug 17;10:e13913. doi: 10.7717/peerj.13913. eCollection 2022. PeerJ. 2022. PMID: 35996667 Free PMC article.

8

Formal and population genetics of F13A and FUCA1 polymorphisms in northern Portugal.

Prata MJ, Amorim A. Prata MJ, et al. Hum Hered. 1990;40(1):45-8. doi: 10.1159/000153902. Hum Hered. 1990. PMID: 2312127

9

Characterization of three new VNTR alleles in the promoter region of the TPMT gene.

Alves S, Ferreira F, Prata MJ, Amorim A. Alves S, et al. Among authors: prata mj. Hum Mutat. 2000 Jan;15(1):121. doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU36>3.0.CO;2-X. Hum Mutat. 2000. PMID: 10612847 No abstract available.

10

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis.

Alves S, Prata MJ, Ferreira F, Amorim A. Alves S, et al. Among authors: prata mj. Hum Mutat. 2000;15(3):246-53. doi: 10.1002/(SICI)1098-1004(200003)15:3<246::AID-HUMU5>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10679940

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