Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
1
TITLE: A NOVEL LIKELY PATHOGENIC VARIANT IN KIF1A-A NEW CASE OF NESCAV SYNDROME Full Text
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: CONGENITAL HEART DEFECTS DETECTED IN PRENATAL CARE AT HOSPITAL SANTA MARIA-6-YEAR RETROSPECTIVE ANALYSIS Full Text
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: XQ28 AND BLUE CONE MONOCHROMACY: A HEMIZYGOUS DELETION INCLUDING OPN1LW AND OPN1MW Full Text
AUTHORS: Rolo, Eva; Custodio, Sonia; Neves, Mariana T.; Dias, Patricia; Sousa, Ana; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Rolo, Eva; Custodio, Sonia; Neves, Mariana T.; Dias, Patricia; Sousa, Ana; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS4
TITLE: NF2-RELATED SCHWANNOMATOSIS - AN ATYPICAL CASE PRESENTATION Full Text
AUTHORS: Soares, Marta P.; Brito, Isabel; Passos, Joao; Carvalho, Joao; Lima, Jorge; Santos, Filipa Baptista; Dupont, Juliette; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Soares, Marta P.; Brito, Isabel; Passos, Joao; Carvalho, Joao; Lima, Jorge; Santos, Filipa Baptista; Dupont, Juliette; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS5
TITLE: The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS
WOS6
TITLE: A new heterozygous c.730T > A, p.(Cys244Ser) variant in TP63 associated with severe hydronephrosis and volar nails
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Sousa, Ana B.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Sousa, Ana B.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS7
TITLE: VARS2-linked mitochondrial disease - an emerging phenotypic spectrum
AUTHORS: Gouveia, Raquel; Rodrigues, Marcia; Moldovan, Oana; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Gouveia, Raquel; Rodrigues, Marcia; Moldovan, Oana; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS8
TITLE: Looking beyond mitral valve prolapse and ischaemic stroke - a late diagnosis of trichorhinophalangeal syndrome type I
AUTHORS: Soares, Marta P.; Rodrigues, Marcia; Silva, Daniela P.; Melo, Teresa Pinho; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Soares, Marta P.; Rodrigues, Marcia; Silva, Daniela P.; Melo, Teresa Pinho; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS9
TITLE: Looking back on copy gains: a retrospective review of clinical relevance and structural mechanisms
AUTHORS: Custodio, Sonia; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Dupont, Juliette; Dias, Patricia; Moldovan, Oana; Machado, Catarina; Rodrigues, Marcia; Sa, Mariana Soeiro; Travessa, Andre; Alves, Joao Rodrigues; Silva, Raquel Gouveia; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Custodio, Sonia; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Dupont, Juliette; Dias, Patricia; Moldovan, Oana; Machado, Catarina; Rodrigues, Marcia; Sa, Mariana Soeiro; Travessa, Andre; Alves, Joao Rodrigues; Silva, Raquel Gouveia; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS10
TITLE: Sixth family with confirmed metaphyseal dysplasia, Spahr type and a novel variant in MMP13: case report and review of the literature
AUTHORS: Travessa, Andre M.; Modamio Hoybjor, Silvia; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Travessa, Andre M.; Modamio Hoybjor, Silvia; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS