Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
21
TITLE: THREE PATIENTS WITH PHIP-RELATED SYNDROME - FURTHER PHENOTYPIC DELINEATION Full Text
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Dias, Patricia; Rodrigues, Marcia; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Dias, Patricia; Rodrigues, Marcia; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: 
WOS
WOS22
TITLE: KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS Full Text
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS23
TITLE: CNOT2 IS PHENOCRITICAL FOR 12Q15 MICRODELETION SYNDROME Full Text
AUTHORS: Rodrigues, Raquel; Soeiro Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Rodrigues, Raquel; Soeiro Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS24
TITLE: New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene Full Text
AUTHORS: Silva, Raquel Gouveia; Dupont, Juliette; Silva, Eduardo; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: JOURNAL OF AAPOS, VOLUME: 26, ISSUE: 5
AUTHORS: Silva, Raquel Gouveia; Dupont, Juliette; Silva, Eduardo; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: JOURNAL OF AAPOS, VOLUME: 26, ISSUE: 5
INDEXED IN: 
Scopus WOS
Scopus WOS25
TITLE: Juvenile Polyposis Syndrome Complicated With Gastric Outlet Obstruction
AUTHORS: Crespo, Ricardo Rios; Currais, Pedro; Craciun, Ana; Dias, Margarida Sobral; Lopes, Joao; Braga, Teresa Cabral; Matos, Helder; Freire, Jose Paulo; Almeida, Ana Berta; Pena, Barbara; Ferreira, Cristina; Ribeiro, Luis Carrilho; Marinho, Rui Tato;
PUBLISHED: 2022, SOURCE: ACG CASE REPORTS JOURNAL, VOLUME: 9, ISSUE: 11
AUTHORS: Crespo, Ricardo Rios; Currais, Pedro; Craciun, Ana; Dias, Margarida Sobral; Lopes, Joao; Braga, Teresa Cabral; Matos, Helder; Freire, Jose Paulo; Almeida, Ana Berta; Pena, Barbara; Ferreira, Cristina; Ribeiro, Luis Carrilho; Marinho, Rui Tato;
PUBLISHED: 2022, SOURCE: ACG CASE REPORTS JOURNAL, VOLUME: 9, ISSUE: 11
INDEXED IN: WOS
WOS26
TITLE: Juvenile Polyposis Syndrome Complicated With Gastric Outlet Obstruction
AUTHORS: Crespo, Ricardo Rios; Currais, Pedro; Craciun, Ana; Dias, Margarida Sobral; Lopes, Joao; Braga, Teresa Cabral; Matos, Helder; Freire, Jose Paulo; Almeida, Ana Berta; Pena, Barbara; Ferreira, Cristina; Ribeiro, Luis Carrilho; Marinho, Rui Tato;
PUBLISHED: 2022, SOURCE: ACG CASE REPORTS JOURNAL, VOLUME: 9, ISSUE: 11
AUTHORS: Crespo, Ricardo Rios; Currais, Pedro; Craciun, Ana; Dias, Margarida Sobral; Lopes, Joao; Braga, Teresa Cabral; Matos, Helder; Freire, Jose Paulo; Almeida, Ana Berta; Pena, Barbara; Ferreira, Cristina; Ribeiro, Luis Carrilho; Marinho, Rui Tato;
PUBLISHED: 2022, SOURCE: ACG CASE REPORTS JOURNAL, VOLUME: 9, ISSUE: 11
INDEXED IN: WOS
WOS27
TITLE: The role ofTP53pathogenic variants in early-onset HER2-positive breast cancer Full Text
AUTHORS: Escudeiro, C; Pinto, C; Vieira, J; Peixoto, A; Pinto, P; Pinheiro, M; Santos, C; Guerra, J; Lisboa, S; Santos, R; Silva, J; Leal, C; Coimbra, N; Lopes, P; Ferreira, M; Sousa, AB; Teixeira, MR ;
PUBLISHED: 2021, SOURCE: FAMILIAL CANCER, VOLUME: 20, ISSUE: 3
AUTHORS: Escudeiro, C; Pinto, C; Vieira, J; Peixoto, A; Pinto, P; Pinheiro, M; Santos, C; Guerra, J; Lisboa, S; Santos, R; Silva, J; Leal, C; Coimbra, N; Lopes, P; Ferreira, M; Sousa, AB; Teixeira, MR ;
PUBLISHED: 2021, SOURCE: FAMILIAL CANCER, VOLUME: 20, ISSUE: 3
28
TITLE: Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
AUTHORS: Sangermano, R; Deitch, I; Peter, VG; Ba Abbad, R; Place, EM; Zampaglione, E; Wagner, NE; Fulton, AB; Coutinho Santos, L; Rosin, B; Dunet, V; AlTalbishi, A; Banin, E; Sousa, AB; Neves, M; Larson, A; Quinodoz, M; Michaelides, M; Ben Yosef, T; Pierce, EA; ...More
PUBLISHED: 2021, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 6, ISSUE: 1
AUTHORS: Sangermano, R; Deitch, I; Peter, VG; Ba Abbad, R; Place, EM; Zampaglione, E; Wagner, NE; Fulton, AB; Coutinho Santos, L; Rosin, B; Dunet, V; AlTalbishi, A; Banin, E; Sousa, AB; Neves, M; Larson, A; Quinodoz, M; Michaelides, M; Ben Yosef, T; Pierce, EA; ...More
PUBLISHED: 2021, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 6, ISSUE: 1
29
TITLE: Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P; Huffels, SC; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P; Huffels, SC; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
30
TITLE: Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
AUTHORS: Frede, N; Rojas Restrepo, J; de Oteyza, ACG; Buchta, M; Hubscher, K; Gamez Diaz, L; Proietti, M; Saghafi, S; Chavoshzadeh, Z; Soler Palacin, P; Galal, N; Adeli, M; Aldave Becerra, JC; Al Ddafari, MS; Ardenyz, O; Atkinson, TP; Kut, FB; Celmeli, F; Rees, H; Kilic, SS; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 41, ISSUE: 8
AUTHORS: Frede, N; Rojas Restrepo, J; de Oteyza, ACG; Buchta, M; Hubscher, K; Gamez Diaz, L; Proietti, M; Saghafi, S; Chavoshzadeh, Z; Soler Palacin, P; Galal, N; Adeli, M; Aldave Becerra, JC; Al Ddafari, MS; Ardenyz, O; Atkinson, TP; Kut, FB; Celmeli, F; Rees, H; Kilic, SS; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 41, ISSUE: 8
