Mota-Vieira L - Search Results

1

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum RL, Polymeropoulos MH. Lavedan C, et al. DNA Res. 1998 Dec 31;5(6):401-2. doi: 10.1093/dnares/5.6.401. DNA Res. 1998. PMID: 10048491 Free article. No abstract available.

2

Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.

Gispert S, Trenkwalder C, Mota-Vieira L, Kostic V, Auburger G. Gispert S, et al. Arch Neurol. 2005 Jan;62(1):96-8. doi: 10.1001/archneur.62.1.96. Arch Neurol. 2005. PMID: 15642855

3

Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

Lima M, Kay T, Vasconcelos J, Mota-Vieira L, Gonzalez C, Peixoto A, Abade A, MacLeod P, Graca R, Santos J. Lima M, et al. Community Genet. 2001;4(1):36-42. doi: 10.1159/000051154. Community Genet. 2001. PMID: 11493751

4

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Chabrol E, Gourfinkel-An I, Scheffer IE, Picard F, Couarch P, Berkovic SF, McMahon JM, Bajaj N, Mota-Vieira L, Mota R, Trouillard O, Depienne C, Baulac M, LeGuern E, Baulac S. Chabrol E, et al. Epilepsy Res. 2007 Aug;76(1):41-8. doi: 10.1016/j.eplepsyres.2007.06.014. Epub 2007 Aug 6. Epilepsy Res. 2007. PMID: 17681454

5

Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.

Cymbron T, Anjos R, Cabral R, Macedo C, Pereira Duarte C, Mota-Vieira L. Cymbron T, et al. Community Genet. 2006;9(2):107-12. doi: 10.1159/000091488. Community Genet. 2006. PMID: 16612061

6

The Y-chromosomal heritage of the Azores Islands population.

Pacheco PR, Branco CC, Cabral R, Costa S, Araújo AL, Peixoto BR, Mendonça P, Mota-Vieira L. Pacheco PR, et al. Ann Hum Genet. 2005 Mar;69(Pt 2):145-56. doi: 10.1046/j.1529-8817.2004.00147.x. Ann Hum Genet. 2005. PMID: 15720296

7

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.

Branco CC, Cabrol E, São Bento M, Gomes CT, Cabral R, Vicente AM, Pacheco PR, Mota-Vieira L. Branco CC, et al. Am J Hum Biol. 2008 May-Jun;20(3):364-6. doi: 10.1002/ajhb.20734. Am J Hum Biol. 2008. PMID: 18257075

8

Azores Islands: genetic origin, gene flow and diversity pattern.

Branco CC, Bento MS, Gomes CT, Cabral R, Pacheco PR, Mota-Vieira L. Branco CC, et al. Ann Hum Biol. 2008 Jan-Feb;35(1):65-74. doi: 10.1080/03014460701793782. Ann Hum Biol. 2008. PMID: 18274926

9

Surnames in the Azores: analysis of the isonymy structure.

Branco CC, Mota-Vieira L. Branco CC, et al. Hum Biol. 2005 Feb;77(1):37-44. doi: 10.1353/hub.2005.0026. Hum Biol. 2005. PMID: 16114815

10

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.

Pires R, Pires LM, Vaz SO, Maciel P, Anjos R, Moniz R, Branco CC, Cabral R, Carreira IM, Mota-Vieira L. Pires R, et al. BMC Genet. 2014 Nov 7;15:115. doi: 10.1186/s12863-014-0115-6. BMC Genet. 2014. PMID: 25376777 Free PMC article.

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