Susana Alves Seixas
AuthID: R-000-GTS
11
TITLE: THE FIRST CDH1 FOUNDER VARIANT IN THE PORTUGUESE POPULATION: A MISSENSE WITH SEVERE IMPACT IN MRNA SPLICING Full Text
AUTHORS: Barbosa Matos, Rita; Silva, Rafaela Leal; Garrido, Luzia; Aguiar, Ana Cerqueira; Garcia Pelaez, Jose; Andre, Ana; Seixas, Susana; Sousa, Sonia Passos; Ferro, Luisa; Vilarinho, Lucia; Gullo, Irene; Devezas, Vitor; Oliveira, Renata; Fernandes, Susana; Costa, Susy Cabral ; Magalhaes, Andre; Baptista, Manuela; Carneiro, Fatima; Pinheiro, Hugo; Castedo, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Barbosa Matos, Rita; Silva, Rafaela Leal; Garrido, Luzia; Aguiar, Ana Cerqueira; Garcia Pelaez, Jose; Andre, Ana; Seixas, Susana; Sousa, Sonia Passos; Ferro, Luisa; Vilarinho, Lucia; Gullo, Irene; Devezas, Vitor; Oliveira, Renata; Fernandes, Susana; Costa, Susy Cabral ; Magalhaes, Andre; Baptista, Manuela; Carneiro, Fatima; Pinheiro, Hugo; Castedo, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: 
WOS
WOS12
TITLE: Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
AUTHORS: Cervan Martin, Miriam; Tuettelmann, Frank; Lopes, Alexandra M. ; Bossini Castillo, Lara; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Carmen Gonzalvo, M.; Clavero, Ana; Maldonado, Vicente; Vicente, F. Javier; Gonzalez Munoz, Sara; Guzman Jimenez, Andrea; Burgos, Miguel; Jimenez, Rafael; Pacheco, Alberto; Gonzalez, Cristina; ...More
PUBLISHED: 2022, SOURCE: COMMUNICATIONS BIOLOGY, VOLUME: 5, ISSUE: 1
AUTHORS: Cervan Martin, Miriam; Tuettelmann, Frank; Lopes, Alexandra M. ; Bossini Castillo, Lara; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Carmen Gonzalvo, M.; Clavero, Ana; Maldonado, Vicente; Vicente, F. Javier; Gonzalez Munoz, Sara; Guzman Jimenez, Andrea; Burgos, Miguel; Jimenez, Rafael; Pacheco, Alberto; Gonzalez, Cristina; ...More
PUBLISHED: 2022, SOURCE: COMMUNICATIONS BIOLOGY, VOLUME: 5, ISSUE: 1
13
TITLE: Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Costa, C; Llinares Burguet, I; Khantham, C; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 11, ISSUE: 1
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Costa, C; Llinares Burguet, I; Khantham, C; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 11, ISSUE: 1
14
TITLE: Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review Full Text
AUTHORS: Corso, G; Corso, F; Bellerba, F; Carneiro, P; Seixas, S; Cioffi, A; La Vecchia, C; Magnoni, F; Bonanni, B; Veronesi, P; Gandini, S; Figueiredo, J;
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 6
AUTHORS: Corso, G; Corso, F; Bellerba, F; Carneiro, P; Seixas, S; Cioffi, A; La Vecchia, C; Magnoni, F; Bonanni, B; Veronesi, P; Gandini, S; Figueiredo, J;
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 6
INDEXED IN: 
Scopus WOS
Scopus WOS15
TITLE: Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum Full Text
AUTHORS: Seixas, S; Marques, PI;
PUBLISHED: 2021, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 14
AUTHORS: Seixas, S; Marques, PI;
PUBLISHED: 2021, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 14
INDEXED IN: Scopus WOS
Scopus WOS16
TITLE: Comparative analysis of the bronchoalveolar microbiome in Portuguese patients with different chronic lung disorders Full Text
AUTHORS: Seixas, S; Kolbe, AR; Gomes, S; Sucena, M; Sousa, C; Rodrigues, LV; Teixeira, G; Pinto, P; de Abreu, TT; Barbara, C; Semedo, J; Mota, L; Carvalho, AS; Matthiesen, R; Marques, PI; Perez Losada, M;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Seixas, S; Kolbe, AR; Gomes, S; Sucena, M; Sousa, C; Rodrigues, LV; Teixeira, G; Pinto, P; de Abreu, TT; Barbara, C; Semedo, J; Mota, L; Carvalho, AS; Matthiesen, R; Marques, PI; Perez Losada, M;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
INDEXED IN: WOS
WOS17
TITLE: The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing Full Text
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
18
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
19
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
20
TITLE: Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review Full Text
AUTHORS: Giovanni Corso; Giacomo Montagna; Joana Figueiredo; Carlo La Vecchia; Uberto F Fumagalli Romario; Maria Sofia Fernandes; Susana Seixas; Franco Roviello; Cristina Trovato; Elena Guerini Rocco; Nicola Fusco; Gabriella Pravettoni; Serena Petrocchi; Anna Rotili; Giulia Massari; Francesca Magnoni; Francesca De Lorenzi; Manuela Bottoni; Viviana Galimberti; Joao Miguel Sanches; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 6
AUTHORS: Giovanni Corso; Giacomo Montagna; Joana Figueiredo; Carlo La Vecchia; Uberto F Fumagalli Romario; Maria Sofia Fernandes; Susana Seixas; Franco Roviello; Cristina Trovato; Elena Guerini Rocco; Nicola Fusco; Gabriella Pravettoni; Serena Petrocchi; Anna Rotili; Giulia Massari; Francesca Magnoni; Francesca De Lorenzi; Manuela Bottoni; Viviana Galimberti; Joao Miguel Sanches; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS