Santos C - Search Results

1

Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).

Gonzalez C, Lima M, Kay T, Silva C, Santos C, Santos J. Gonzalez C, et al. Among authors: santos c, santos j. Community Genet. 2004;7(4):196-201. doi: 10.1159/000082262. Community Genet. 2004. PMID: 15692194

2

Testing hierarchical levels of population sub-structuring: the Azores islands (Portugal) as a case study.

Santos C, Abade A, Lima M. Santos C, et al. J Biosoc Sci. 2008 Jul;40(4):607-21. doi: 10.1017/S0021932007002477. Epub 2007 Oct 24. J Biosoc Sci. 2008. PMID: 17956651

3

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

Bettencourt C, Fialho RN, Santos C, Montiel R, Bruges-Armas J, Maciel P, Lima M. Bettencourt C, et al. Among authors: santos c. J Hum Genet. 2008;53(4):333-339. doi: 10.1007/s10038-008-0261-7. Epub 2008 Feb 20. J Hum Genet. 2008. PMID: 18286225

4

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

Bettencourt C, Santos C, Kay T, Vasconcelos J, Lima M. Bettencourt C, et al. Among authors: santos c. J Hum Genet. 2008;53(10):920-923. doi: 10.1007/s10038-008-0330-y. Epub 2008 Aug 9. J Hum Genet. 2008. PMID: 18688568

5

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.

Bettencourt C, Santos C, Montiel R, Kay T, Vasconcelos J, Maciel P, Lima M. Bettencourt C, et al. Among authors: santos c. Eur J Hum Genet. 2010 May;18(5):621-3. doi: 10.1038/ejhg.2009.215. Epub 2009 Nov 25. Eur J Hum Genet. 2010. PMID: 19935829 Free PMC article.

6

The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.

Bettencourt C, Raposo M, Kazachkova N, Cymbron T, Santos C, Kay T, Vasconcelos J, Maciel P, Donis KC, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Lima M. Bettencourt C, et al. Among authors: santos c. Arch Neurol. 2011 Dec;68(12):1580-3. doi: 10.1001/archneurol.2011.636. Arch Neurol. 2011. PMID: 22159055

7

Polymorphism of the APOE locus in the Azores Islands (Portugal).

Bettencourt C, Montiel R, Santos C, Pavão ML, Viegas-Crespo AM, Lopes PA, Lima M. Bettencourt C, et al. Among authors: santos c. Hum Biol. 2006 Aug;78(4):509-12. doi: 10.1353/hub.2006.0053. Hum Biol. 2006. PMID: 17278624

8

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.

Silva F, Pereira R, Gusmão L, Santos C, Amorim A, Prata MJ, Bettencourt C, Lourenço P, Lima M. Silva F, et al. Among authors: santos c. Am J Hum Biol. 2010 Mar-Apr;22(2):221-3. doi: 10.1002/ajhb.20971. Am J Hum Biol. 2010. PMID: 19593741

9

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Bettencourt C, Santos C, Montiel R, Costa Mdo C, Cruz-Morales P, Santos LR, Simões N, Kay T, Vasconcelos J, Maciel P, Lima M. Bettencourt C, et al. Among authors: santos c, santos lr. Neurogenetics. 2010 May;11(2):193-202. doi: 10.1007/s10048-009-0216-y. Epub 2009 Aug 28. Neurogenetics. 2010. PMID: 19714377

10

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.

Bettencourt C, Santos C, Coutinho P, Rizzu P, Vasconcelos J, Kay T, Cymbron T, Raposo M, Heutink P, Lima M. Bettencourt C, et al. Among authors: santos c. BMC Neurol. 2011 Oct 24;11:131. doi: 10.1186/1471-2377-11-131. BMC Neurol. 2011. PMID: 22023810 Free PMC article.

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