Susana Alves Seixas
AuthID: R-000-GTS
21
TITLE: External quality assessment (EQA) for laboratory diagnosis of alpha1-antitrypsin deficiency (AATD) - Program driven by the European Alpha-1-Research Collaboration (EARCO) network
AUTHORS: Ferrarotti, I; Belmonte, I; Balduyck, M; Carroll, TP; Corsico, AG; Greulich, T; Mcelvaney, NG; Miravitlles, M; Odou, F; Ottaviani, S; Rodriguez Frias, F; Rozy, A; Seixas, S; Veith, M; Zerimech, F; Chorostowska Wynimko, J;
PUBLISHED: 2021, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 58
AUTHORS: Ferrarotti, I; Belmonte, I; Balduyck, M; Carroll, TP; Corsico, AG; Greulich, T; Mcelvaney, NG; Miravitlles, M; Odou, F; Ottaviani, S; Rodriguez Frias, F; Rozy, A; Seixas, S; Veith, M; Zerimech, F; Chorostowska Wynimko, J;
PUBLISHED: 2021, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 58
22
TITLE: Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure Full Text
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8
23
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
24
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
25
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
26
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
27
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
28
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
29
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 WOS30
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
WOS