ProfileOfResearchers

TITLE: TO REPORT OR NOT TO REPORT?-15Q11.2 (BP1-BP2) RECURRENT MICRODELETION Full Text
AUTHORS: Custodio, Sonia; Macedo, Catarina; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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TITLE: GENOTYPE, PHENOTYPE AND CLINICAL FOLLOW-UP OF A MULTICENTRIC COHORT OF PATIENTS WITH PTEN HAMARTOMA TUMOR SYNDROME Full Text
AUTHORS: Soares, Celia Azevedo; Soares, Gabriela; Soares, Ana Rita; Soares, Marta; Rodrigues, Marcia; Dupont, Juliette; Dias, Patricia; Soeiro e Sa, Mariana; Sousa, Ana Berta; Nunes, Sofia; Venancio, Margarida; Antunes, Diana; Fortuna, Ana Maria; Tkachenko, Natalia;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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TITLE: TAB2 HAPLOINSUFFICIENCY - FROM ISOLATED HEART DISEASE TO A NEWLY RECOGNIZED SYSTEMIC PATTERN Full Text
AUTHORS: Silva, Raquel Gouveia; Moldovan, Oana; Rebelo, Monica; Sérgio Matoso Laranjo; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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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

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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; Ramos, Lina; Soares, Ana Rita; Soares, Celia; Soares, Gabriela; Tkachenko, Nataliya; Amorim, Marta; Antunes, Diana; Freixo, Joao; Fortuna, Ana Maria; Reis, Claudia Falcao; Saraiva, Jorge; Sousa, Ana Berta; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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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

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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

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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

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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

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