Amorim A - Search Results

1

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A. Martins S, et al. Among authors: amorim a. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):439-46. doi: 10.1002/ajmg.b.30624. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17948873

2

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.

Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. Munar-Qués M, et al. Among authors: amorim a. J Med Genet. 1999 Aug;36(8):629-32. J Med Genet. 1999. PMID: 10465115 Free PMC article.

3

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

4

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

5

Microsatellite variation and evolutionary history of PCDHX/Y gene pair within the Xq21.3/Yp11.2 hominid-specific homology block.

Lopes AM, Calafell F, Amorim A. Lopes AM, et al. Among authors: amorim a. Mol Biol Evol. 2004 Nov;21(11):2092-101. doi: 10.1093/molbev/msh218. Epub 2004 Aug 5. Mol Biol Evol. 2004. PMID: 15297598

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

7

Mutation rates at Y chromosome specific microsatellites.

Gusmão L, Sánchez-Diz P, Calafell F, Martín P, Alonso CA, Alvarez-Fernández F, Alves C, Borjas-Fajardo L, Bozzo WR, Bravo ML, Builes JJ, Capilla J, Carvalho M, Castillo C, Catanesi CI, Corach D, Di Lonardo AM, Espinheira R, Fagundes de Carvalho E, Farfán MJ, Figueiredo HP, Gomes I, Lojo MM, Marino M, Pinheiro MF, Pontes ML, Prieto V, Ramos-Luis E, Riancho JA, Souza Góes AC, Santapa OA, Sumita DR, Vallejo G, Vidal Rioja L, Vide MC, Vieira da Silva CI, Whittle MR, Zabala W, Zarrabeitia MT, Alonso A, Carracedo A, Amorim A. Gusmão L, et al. Among authors: amorim a. Hum Mutat. 2005 Dec;26(6):520-8. doi: 10.1002/humu.20254. Hum Mutat. 2005. PMID: 16220553

8

Micro-phylogeographic and demographic history of Portuguese male lineages.

Beleza S, Gusmão L, Lopes A, Alves C, Gomes I, Giouzeli M, Calafell F, Carracedo A, Amorim A. Beleza S, et al. Among authors: amorim a. Ann Hum Genet. 2006 Mar;70(Pt 2):181-94. doi: 10.1111/j.1529-8817.2005.00221.x. Ann Hum Genet. 2006. PMID: 16626329

9

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

10

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J. Martins S, et al. Among authors: amorim a. Arch Neurol. 2007 Oct;64(10):1502-8. doi: 10.1001/archneur.64.10.1502. Arch Neurol. 2007. PMID: 17923634

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