Susana Alves Seixas
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TITLE: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
72
TITLE: Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations Full Text
AUTHORS: Encarnacao, 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;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
AUTHORS: Encarnacao, 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;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
73
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
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TITLE: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula Full Text
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
75
TITLE: Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique Full Text
AUTHORS: Oliveira, E; Quental, S ; Alves, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2007, SOURCE: EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY, VOLUME: 63, ISSUE: 7
AUTHORS: Oliveira, E; Quental, S ; Alves, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2007, SOURCE: EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY, VOLUME: 63, ISSUE: 7
76
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations Full Text
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
77
TITLE: Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms Full Text
AUTHORS: Oliveira, E; Alves, S; Quental, S ; Ferreira, F; Norton, L; Costa, V; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2006, SOURCE: International Congress Series, VOLUME: 1288
AUTHORS: Oliveira, E; Alves, S; Quental, S ; Ferreira, F; Norton, L; Costa, V; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2006, SOURCE: International Congress Series, VOLUME: 1288
78
TITLE: The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal
AUTHORS: Oliveira, E; Alves, S; Quental, S ; Ferreira, F; Norton, L; Costa, T; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2005, SOURCE: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, VOLUME: 27, ISSUE: 8
AUTHORS: Oliveira, E; Alves, S; Quental, S ; Ferreira, F; Norton, L; Costa, T; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2005, SOURCE: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, VOLUME: 27, ISSUE: 8
79
TITLE: Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: Preliminary data from the patterns of haplotypic association with two CA repeats Full Text
AUTHORS: Alves, S; Rocha, J ; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2004, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 68, ISSUE: 4
AUTHORS: Alves, S; Rocha, J ; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2004, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 68, ISSUE: 4
80
TITLE: Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data Full Text
AUTHORS: Alves, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2002, SOURCE: HUMAN GENETICS, VOLUME: 111, ISSUE: 2
AUTHORS: Alves, S; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2002, SOURCE: HUMAN GENETICS, VOLUME: 111, ISSUE: 2
