Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
21
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
AUTHORS: Silva, Raquel Gouveia; Moldovan, Oana; Rebelo, Monica; Sérgio Matoso Laranjo; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: 
WOS
WOS22
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
WOS23
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
WOS24
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
WOS25
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 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: 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
WOS28
TITLE: Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects Full Text
AUTHORS: Andre M Travessa; Patricia Dias; Antonia Santos; Sonia Custodio; Ana Sousa; Ana Berta Sousa;
PUBLISHED: 2020, SOURCE: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, VOLUME: 59, ISSUE: 2
AUTHORS: Andre M Travessa; Patricia Dias; Antonia Santos; Sonia Custodio; Ana Sousa; Ana Berta Sousa;
PUBLISHED: 2020, SOURCE: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, VOLUME: 59, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS29
TITLE: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; Hajianpour, MJ; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; Hajianpour, MJ; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: Scopus WOS
Scopus WOS30
TITLE: VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease
AUTHORS: Daniela Pimenta Silva; Mariana S E Soeiro E Sa; Fernando Silveira; Susana Pinto; Marta Gromicho; Ana Berta Sousa; Miguel Leao; Mamede De Carvalho;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
AUTHORS: Daniela Pimenta Silva; Mariana S E Soeiro E Sa; Fernando Silveira; Susana Pinto; Marta Gromicho; Ana Berta Sousa; Miguel Leao; Mamede De Carvalho;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
INDEXED IN: Scopus WOS
Scopus WOS