Susana Alves Seixas
AuthID: R-000-GTS
21
TITLE: Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI-Indirect Proof of Principle on Its Pathogenicity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
22
TITLE: A rare case of pulmonary disease combining alpha-1-antitrypsin deficiency and common variable immunodeficiency
AUTHORS: Sousa, CS; Teixeira, V; Pereira, V; Pinheiro, RB; Seixas, S; Martins, N;
PUBLISHED: 2020, SOURCE: PULMONOLOGY, VOLUME: 26, ISSUE: 6
AUTHORS: Sousa, CS; Teixeira, V; Pereira, V; Pinheiro, RB; Seixas, S; Martins, N;
PUBLISHED: 2020, SOURCE: PULMONOLOGY, VOLUME: 26, ISSUE: 6
23
TITLE: Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
AUTHORS: Corso, G; Montagna, G; Figueiredo, J; La Vecchia, C; Romario, UF; Fernandes, MS; Seixas, S; Roviello, F; Trovato, C; Guerini Rocco, E; Fusco, N; Pravettoni, G; Petrocchi, S; Rotili, A; Massari, G; Magnoni, F; De Lorenzi, F; Bottoni, M; Galimberti, V; Sanches, JM; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 6
AUTHORS: Corso, G; Montagna, G; Figueiredo, J; La Vecchia, C; Romario, UF; Fernandes, MS; Seixas, S; Roviello, F; Trovato, C; Guerini Rocco, E; Fusco, N; Pravettoni, G; Petrocchi, S; Rotili, A; Massari, G; Magnoni, F; De Lorenzi, F; Bottoni, M; Galimberti, V; Sanches, JM; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 6
24
TITLE: GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution Full Text
AUTHORS: Monica Lopes Marques ; Catarina Serrano; Ana R Cardoso; Renato Salazar; Susana Seixas; Amorim, Antonio ; Luisa Azevedo ; Maria J Prata ;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
AUTHORS: Monica Lopes Marques ; Catarina Serrano; Ana R Cardoso; Renato Salazar; Susana Seixas; Amorim, Antonio ; Luisa Azevedo ; Maria J Prata ;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
25
TITLE: Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
AUTHORS: Cerván Martín, M; Suazo Sánchez, MI; Rivera Egea, R; Garrido, N; Luján, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Maldonado, V; Burgos, M; Barrionuevo, FJ; Jiménez, R; Sánchez Curbelo, J; López Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; ...More
PUBLISHED: 2020, SOURCE: FERTILITY AND STERILITY, VOLUME: 114, ISSUE: 2
AUTHORS: Cerván Martín, M; Suazo Sánchez, MI; Rivera Egea, R; Garrido, N; Luján, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Maldonado, V; Burgos, M; Barrionuevo, FJ; Jiménez, R; Sánchez Curbelo, J; López Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; ...More
PUBLISHED: 2020, SOURCE: FERTILITY AND STERILITY, VOLUME: 114, ISSUE: 2
26
TITLE: Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach Full Text
AUTHORS: Coutinho, MF; Santos, JI; Mendonca, LS; Matos, L; Prata, MJ ; Jurado, AS; de Lima, MCP; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 16
AUTHORS: Coutinho, MF; Santos, JI; Mendonca, LS; Matos, L; Prata, MJ ; Jurado, AS; de Lima, MCP; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 16
27
TITLE: Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants Full Text
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
INDEXED IN: 
Scopus 
WOS
Scopus WOS28
TITLE: NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
AUTHORS: Marisa Encarnacao; Maria Francisca Coutinho; Soo Min Cho; Maria Teresa Cardoso; Isaura Ribeiro; Paulo Chaves; Juliana Ines Santos; Dulce Quelhas; Lucia Lacerda; Elisa L Leao Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE
AUTHORS: Marisa Encarnacao; Maria Francisca Coutinho; Soo Min Cho; Maria Teresa Cardoso; Isaura Ribeiro; Paulo Chaves; Juliana Ines Santos; Dulce Quelhas; Lucia Lacerda; Elisa L Leao Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE
INDEXED IN: WOS
WOS29
TITLE: Is the Proteome of Bronchoalveolar Lavage Extracellular Vesicles a Marker of Advanced Lung Cancer? Full Text
AUTHORS: Carvalho, AS; Moraes, MCS; Na, CH; Fierro Monti, I; Henriques, A; Zahedi, S; Bodo, C; Tranfield, EM; Sousa, AL; Farinho, A; Rodrigues, LV; Pinto, P; Barbara, C; Mota, L; de Abreu, TT; Semedo, J; Seixas, S; Kumar, P; Costa Silva, B; Pandey, A; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 11
AUTHORS: Carvalho, AS; Moraes, MCS; Na, CH; Fierro Monti, I; Henriques, A; Zahedi, S; Bodo, C; Tranfield, EM; Sousa, AL; Farinho, A; Rodrigues, LV; Pinto, P; Barbara, C; Mota, L; de Abreu, TT; Semedo, J; Seixas, S; Kumar, P; Costa Silva, B; Pandey, A; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 11
30
TITLE: Unravelling the genetic landscape of early-onset emphysema by whole exome sequencing
AUTHORS: Gonçalves, JC; Vaz Rodrigues, L; Marques, PI; Seixas, S;
PUBLISHED: 2020, SOURCE: 03.01 - Molecular pathology and funct. genomics
AUTHORS: Gonçalves, JC; Vaz Rodrigues, L; Marques, PI; Seixas, S;
PUBLISHED: 2020, SOURCE: 03.01 - Molecular pathology and funct. genomics
