Amorim A - Search Results

1

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Martins S, et al. Among authors: amorim a. Hum Genet. 2014 Oct;133(10):1311-8. doi: 10.1007/s00439-014-1467-8. Epub 2014 Jul 16. Hum Genet. 2014. PMID: 25026993

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

3

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

4

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

5

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

6

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I. Almeida T, et al. Among authors: amorim a. PLoS One. 2009;4(2):e4553. doi: 10.1371/journal.pone.0004553. Epub 2009 Feb 23. PLoS One. 2009. PMID: 19234597 Free PMC article.

7

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA. Martins S, et al. Among authors: amorim a. Arch Neurol. 2012 Jun;69(6):746-51. doi: 10.1001/archneurol.2011.2504. Arch Neurol. 2012. PMID: 22351852

8

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88.

González M, Gomes V, López-Parra AM, Amorim A, Carracedo A, Sánchez-Diz P, Arroyo-Pardo E, Gusmão L. González M, et al. Among authors: amorim a. Eur J Hum Genet. 2013 Mar;21(3):324-31. doi: 10.1038/ejhg.2012.167. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892526 Free PMC article.

9

Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism.

Santos D, Pimenta J, Wong VC, Amorim A, Martins S. Santos D, et al. Among authors: amorim a. Am J Med Genet B Neuropsychiatr Genet. 2014 Oct;165B(7):581-6. doi: 10.1002/ajmg.b.32261. Epub 2014 Jul 31. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 25078541

10

Resolving the ancestry of Austronesian-speaking populations.

Soares PA, Trejaut JA, Rito T, Cavadas B, Hill C, Eng KK, Mormina M, Brandão A, Fraser RM, Wang TY, Loo JH, Snell C, Ko TM, Amorim A, Pala M, Macaulay V, Bulbeck D, Wilson JF, Gusmão L, Pereira L, Oppenheimer S, Lin M, Richards MB. Soares PA, et al. Among authors: amorim a. Hum Genet. 2016 Mar;135(3):309-26. doi: 10.1007/s00439-015-1620-z. Epub 2016 Jan 18. Hum Genet. 2016. PMID: 26781090 Free PMC article.

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