Azevedo L - 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: azevedo l. Genes (Basel). 2021 Nov 19;12(11):1827. doi: 10.3390/genes12111827. Genes (Basel). 2021. PMID: 34828433 Free PMC article. Review.

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

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.

8

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

9

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

10

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.

Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM. Suriano G, et al. Among authors: azevedo l. Hum Mol Genet. 2007 Sep 15;16(18):2209-14. doi: 10.1093/hmg/ddm172. Epub 2007 Jul 5. Hum Mol Genet. 2007. PMID: 17613537

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,062 results

Search Page

Filters