Alves S - Search Results

1

Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses.

Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, David H, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Diogo L, Ferreira S, Santos C, Martins E, Neuparth T, Soares J, Ribeiro M, Ribeiro Pinho B, Oliveira N, Ascenção Oliveira JM, Prata MJ, Santos M, Alves S, Coutinho MF. Carvalho S, et al. Among authors: alves s. Endocr Metab Immune Disord Drug Targets. 2023 Nov 2. doi: 10.2174/0118715303277318231024055425. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37937567

2

Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal.

Alves S, Prata MJ, Ferreira F, Amorim A. Alves S, et al. Pharmacogenetics. 1999 Apr;9(2):257-61. Pharmacogenetics. 1999. PMID: 10376773

3

Characterization of three new VNTR alleles in the promoter region of the TPMT gene.

Alves S, Ferreira F, Prata MJ, Amorim A. Alves S, et al. Hum Mutat. 2000 Jan;15(1):121. doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU36>3.0.CO;2-X. Hum Mutat. 2000. PMID: 10612847 No abstract available.

4

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis.

Alves S, Prata MJ, Ferreira F, Amorim A. Alves S, et al. Hum Mutat. 2000;15(3):246-53. doi: 10.1002/(SICI)1098-1004(200003)15:3<246::AID-HUMU5>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10679940

5

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data.

Alves S, Amorim A, Prata MJ. Alves S, et al. Hum Genet. 2002 Aug;111(2):172-8. doi: 10.1007/s00439-002-0784-5. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189491

6

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.

Alves S, Rocha J, Amorim A, Prata MJ. Alves S, et al. Ann Hum Genet. 2004 Jul;68(Pt 4):313-23. doi: 10.1046/j.1529-8817.2004.00104.x. Ann Hum Genet. 2004. PMID: 15225157

7

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Among authors: alves s. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

8

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125

9

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. Clin Genet. 2012 Apr;81(4):379-93. doi: 10.1111/j.1399-0004.2011.01625.x. Epub 2011 Mar 1. Clin Genet. 2012. PMID: 21214877

10

Glycosaminoglycan storage disorders: a review.

Coutinho MF, Lacerda L, Alves S. Coutinho MF, et al. Among authors: alves s. Biochem Res Int. 2012;2012:471325. doi: 10.1155/2012/471325. Epub 2011 Oct 5. Biochem Res Int. 2012. PMID: 22013531 Free PMC article.

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