Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
1
TITLE: Genetic profile of syndromic retinitis pigmentosa in Portugal
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, VOLUME: 262, ISSUE: 6
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, VOLUME: 262, ISSUE: 6
2
TITLE: Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
AUTHORS: Rodrigues, Raquel; Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 32, ISSUE: 2
AUTHORS: Rodrigues, Raquel; Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 32, ISSUE: 2
3
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
WOS4
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
WOS5
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
WOS6
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
WOS7
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
WOS8
TITLE: Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder <i>SERPINF1</i> variant
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
9
TITLE: Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
AUTHORS: Lamounier, A; Gonzalez, AG; Vilela, AR; Andrade, AR; Alcaide, AR; Sousa, AB; Lopez, CB; Garcia, DA; Ferro, GF; Cruz, I; Reyes, IJC; Garcia, JSM; Larranaga Moreira, JM; Ochoa, JP; Palomino Doza, J; Romero, LD; Cicerchia, MN; Cordoba, MAR; Pena Pena, ML; Brogger, MN; ...More
PUBLISHED: 2022, SOURCE: REVISTA ESPANOLA DE CARDIOLOGIA, VOLUME: 75, ISSUE: 3
AUTHORS: Lamounier, A; Gonzalez, AG; Vilela, AR; Andrade, AR; Alcaide, AR; Sousa, AB; Lopez, CB; Garcia, DA; Ferro, GF; Cruz, I; Reyes, IJC; Garcia, JSM; Larranaga Moreira, JM; Ochoa, JP; Palomino Doza, J; Romero, LD; Cicerchia, MN; Cordoba, MAR; Pena Pena, ML; Brogger, MN; ...More
PUBLISHED: 2022, SOURCE: REVISTA ESPANOLA DE CARDIOLOGIA, VOLUME: 75, ISSUE: 3
10
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
WOS