Susana Alves Seixas
AuthID: R-000-GTS
51
TITLE: Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II Full Text
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
52
TITLE: Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi(star)ZQ0gaia-Q0gaia allele
AUTHORS: Oliveira, MJ; Seixas, S; Ladeira, I; Monteiro, R; Shiang, T; Guimaraes, M; Lima, R;
PUBLISHED: 2015, SOURCE: REVISTA PORTUGUESA DE PNEUMOLOGIA, VOLUME: 21, ISSUE: 6
AUTHORS: Oliveira, MJ; Seixas, S; Ladeira, I; Monteiro, R; Shiang, T; Guimaraes, M; Lima, R;
PUBLISHED: 2015, SOURCE: REVISTA PORTUGUESA DE PNEUMOLOGIA, VOLUME: 21, ISSUE: 6
53
TITLE: Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity (vol 5, pg 2512, 2013) Full Text
AUTHORS: Zelia Ferreira; Belen Hurle; Aida M Andres; Warren W Kretzschmar; James C Mullikin; Praveen F Cherukuri; Pedro Cruz; Katie E Hyma; Mary Katherine Gonder; Anne C Stone; Sarah Tishkoff; Willie J Swanson; Eric D Green; Andrew G Clark; Susana Seixas;
PUBLISHED: 2014, SOURCE: GENOME BIOLOGY AND EVOLUTION, VOLUME: 6, ISSUE: 2
AUTHORS: Zelia Ferreira; Belen Hurle; Aida M Andres; Warren W Kretzschmar; James C Mullikin; Praveen F Cherukuri; Pedro Cruz; Katie E Hyma; Mary Katherine Gonder; Anne C Stone; Sarah Tishkoff; Willie J Swanson; Eric D Green; Andrew G Clark; Susana Seixas;
PUBLISHED: 2014, SOURCE: GENOME BIOLOGY AND EVOLUTION, VOLUME: 6, ISSUE: 2
54
TITLE: Adaptive Evolution and Divergence of SERPINB3: A Young Duplicate in Great Apes Full Text
AUTHORS: Silvia Gomes; Patricia I Marques; Rune Matthiesen; Susana Seixas;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 8
AUTHORS: Silvia Gomes; Patricia I Marques; Rune Matthiesen; Susana Seixas;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 8
IN MY: 
ORCID | 
ResearcherID
ORCID | ResearcherID55
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
56
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
57
TITLE: Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients Full Text
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
58
TITLE: Glycosaminoglycan storage disorders: A review Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
INDEXED IN: 
Scopus 
CrossRef
Scopus CrossRef59
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
60
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
