Amorim A - Search Results

1

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. Among authors: amorim a. 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.

2

Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours.

Alves C, Silva F, Gusmão L, Seruca R, Soares P, Reis RM, Amorim A. Alves C, et al. Among authors: amorim a. Eur J Hum Genet. 2000 Jul;8(7):540-4. doi: 10.1038/sj.ejhg.5200486. Eur J Hum Genet. 2000. PMID: 10909855

3

MUC1 gene polymorphism in the gastric carcinogenesis pathway.

Silva F, Carvalho F, Peixoto A, Seixas M, Almeida R, Carneiro F, Mesquita P, Figueiredo C, Nogueira C, Swallow DM, Amorim A, David L. Silva F, et al. Among authors: amorim a. Eur J Hum Genet. 2001 Jul;9(7):548-52. doi: 10.1038/sj.ejhg.5200677. Eur J Hum Genet. 2001. PMID: 11464247

4

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: amorim a. Leukemia. 2002 Jul;16(7):1353-7. doi: 10.1038/sj.leu.2402525. Leukemia. 2002. PMID: 12094260

5

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. Among authors: amorim a. Mol Genet Metab. 2002 May;76(1):68-70. doi: 10.1016/s1096-7192(02)00013-6. Mol Genet Metab. 2002. PMID: 12175783

6

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms.

Azevedo L, Calafell F, Vilarinho L, Amorim A. Azevedo L, et al. Among authors: amorim a. 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

7

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. Among authors: amorim a. Mol Genet Metab. 2003 Feb;78(2):152-7. doi: 10.1016/s1096-7192(03)00019-2. Mol Genet Metab. 2003. PMID: 12618087

8

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. Among authors: amorim a. Hum Mutat. 2004 Sep;24(3):273. doi: 10.1002/humu.9268. Hum Mutat. 2004. PMID: 15300856

9

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: amorim a. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148

10

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.

Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A. Martins S, et al. Among authors: amorim a. Eur J Hum Genet. 2006 Aug;14(8):932-40. doi: 10.1038/sj.ejhg.5201643. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724006

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