Azevedo L - Search Results

1

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

2

Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal.

Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A. Martins S, et al. Among authors: azevedo l. Leukemia. 2002 Jul;16(7):1353-7. doi: 10.1038/sj.leu.2402525. Leukemia. 2002. PMID: 12094260

3

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.

Azevedo L, Vilarinho L, Teles EL, Amorim A. Azevedo L, et al. Mol Genet Metab. 2002 May;76(1):68-70. doi: 10.1016/s1096-7192(02)00013-6. Mol Genet Metab. 2002. PMID: 12175783

4

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms.

Azevedo L, Calafell F, Vilarinho L, Amorim A. Azevedo L, et al. Ann Hum Genet. 2002 Nov;66(Pt 5-6):379-85. doi: 10.1046/j.1469-1809.2002.00129.x. Ann Hum Genet. 2002. PMID: 12516615

5

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.

Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L. Azevedo L, et al. Mol Genet Metab. 2003 Feb;78(2):152-7. doi: 10.1016/s1096-7192(03)00019-2. Mol Genet Metab. 2003. PMID: 12618087

6

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.

Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A. Azevedo L, et al. Hum Mutat. 2004 Sep;24(3):273. doi: 10.1002/humu.9268. Hum Mutat. 2004. PMID: 15300856

7

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Among authors: azevedo l. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148

8

Epistatic interactions: how strong in disease and evolution?

Azevedo L, Suriano G, van Asch B, Harding RM, Amorim A. Azevedo L, et al. Trends Genet. 2006 Nov;22(11):581-5. doi: 10.1016/j.tig.2006.08.001. Epub 2006 Sep 5. Trends Genet. 2006. PMID: 16911842 Review.

9

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).

Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A. Azevedo L, et al. Ann Hum Genet. 2006 Nov;70(Pt 6):797-801. doi: 10.1111/j.1469-1809.2006.00283.x. Ann Hum Genet. 2006. PMID: 17044854

10

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L. Quelhas D, et al. Among authors: azevedo l. Ann Hum Genet. 2007 May;71(Pt 3):348-53. doi: 10.1111/j.1469-1809.2006.00334.x. Epub 2006 Dec 12. Ann Hum Genet. 2007. PMID: 17166182

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