Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
11
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
12
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
WOS13
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
WOS14
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
WOS15
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
WOS16
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
WOS17
TITLE: Anisometropia and asymmetric ABCA4-related cone-rod dystrophy
AUTHORS: Santos, Cristina; Almeida, Andreia; Pinto, Rita; Kaminska, Karolina; Peter, Virginie G.; Sousa, Ana Berta; Rivolta, Carlo; Coutinho Santos, Luisa;
PUBLISHED: 2022, SOURCE: OPHTHALMIC GENETICS, VOLUME: 43, ISSUE: 4
AUTHORS: Santos, Cristina; Almeida, Andreia; Pinto, Rita; Kaminska, Karolina; Peter, Virginie G.; Sousa, Ana Berta; Rivolta, Carlo; Coutinho Santos, Luisa;
PUBLISHED: 2022, SOURCE: OPHTHALMIC GENETICS, VOLUME: 43, ISSUE: 4
18
TITLE: EXPANDING THE CLINICAL SPECTRUM OF COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY ASSOCIATED WITH MRPS34 GENE: A MILD CASE WITH SLENDER HABITUS Full Text
AUTHORS: Ramos Travessa, Andre Miguel; Pereira, Carla; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Ramos Travessa, Andre Miguel; Pereira, Carla; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS19
TITLE: A NOVEL HOMOZYGOUS VARIANT IN CDK10-AL KAISSI SYNDROME AS AN EMERGING DISORDER Full Text
AUTHORS: Soares, Marta P.; Rodrigues, Marcia; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Soares, Marta P.; Rodrigues, Marcia; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS20
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
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
INDEXED IN: WOS
WOS