Filipa Alexandra Mascarenhas Melo
AuthID: R-000-RYR
11
TITLE: <i>IMMP2L</i> gene deletions detected by array-CGH - variants of uncertain clinicalsignificance or benign deletions?
AUTHORS: Carreira, Isabel Marques; Ferreira, Susana Isabel; Val, Mariana; Mascarenhas, Alexandra; Pinto, Marta; Lavoura, Nuno; Pires, Luis Miguel; Jardim, Ana; de Melo, Joana Barbosa;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
AUTHORS: Carreira, Isabel Marques; Ferreira, Susana Isabel; Val, Mariana; Mascarenhas, Alexandra; Pinto, Marta; Lavoura, Nuno; Pires, Luis Miguel; Jardim, Ana; de Melo, Joana Barbosa;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: 
WOS
WOS12
TITLE: PRENATAL DIAGNOSIS OF WOLF-HIRSCHHORN SYNDROME WITH TWO DIFFERENT CELL LINES Full Text
AUTHORS: Mascarenhas, Alexandra; Pires, Luis M.; Jardim, Ana; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Mascarenhas, Alexandra; Pires, Luis M.; Jardim, Ana; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS13
TITLE: Paternal pericentric inversion of chromosome 4 and three recombinants in the offspring - Structural Variation of Human Genome Full Text
AUTHORS: Alexandra Mascarenhas; Luis Miguel Pires; Fabiana Ramos; Marta Pinto; Patricia Paiva; Joana Barbosa de Melo; Isabel Marques Carreira;
PUBLISHED: 2020, SOURCE: CIMAGO Meeting - Challenges in Oncobiology in MEDICINE, VOLUME: 99, ISSUE: 23
AUTHORS: Alexandra Mascarenhas; Luis Miguel Pires; Fabiana Ramos; Marta Pinto; Patricia Paiva; Joana Barbosa de Melo; Isabel Marques Carreira;
PUBLISHED: 2020, SOURCE: CIMAGO Meeting - Challenges in Oncobiology in MEDICINE, VOLUME: 99, ISSUE: 23
INDEXED IN: WOS
WOS14
TITLE: Cytogenetic characterization of a terminal deletion of the X chromosome found by array CGH revealed a mosaic karyotype with an isodicentric X chromosome Full Text
AUTHORS: Alexandra Mascarenhas; Susana Ferreira; Claudia Pais; Isabel Marques Carreira; Joana Barbosa Melo;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
AUTHORS: Alexandra Mascarenhas; Susana Ferreira; Claudia Pais; Isabel Marques Carreira; Joana Barbosa Melo;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
INDEXED IN: WOS
WOS15
TITLE: Androgenetic biparental chimerism in prenatal diagnosis a case report Full Text
AUTHORS: Pinto, MC; Pires, LM; Mascarenhas, A; Jardim, A; Val, M; Paiva, P; Melo, JB; Carreira, IM;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
AUTHORS: Pinto, MC; Pires, LM; Mascarenhas, A; Jardim, A; Val, M; Paiva, P; Melo, JB; Carreira, IM;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
INDEXED IN: WOS
WOS16
TITLE: Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients Full Text
AUTHORS: Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luis Miguel Pires ; Jose Ferrao; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Claudia Pais; Patricia Paiva; Lucia Simoes; Francisco Caramelo; Lina Ramos; Margarida Venancio; Fabiana Ramos; Ana Beleza; Joaquim Sa; Jorge Saraiva; Joana Barbosa de Melo;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
AUTHORS: Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luis Miguel Pires ; Jose Ferrao; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Claudia Pais; Patricia Paiva; Lucia Simoes; Francisco Caramelo; Lina Ramos; Margarida Venancio; Fabiana Ramos; Ana Beleza; Joaquim Sa; Jorge Saraiva; Joana Barbosa de Melo;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
17
TITLE: Array-CGH in prenatal diagnosis-reflexions over the first 100 cases Full Text
AUTHORS: Alexandra Mascarenhas; Susana Isabel Ferreira; Luis Miguel Pires; Claudia Pais; Patricia Paiva; Miguel Branco; Ana Isabel Rei; Joana Barbosa Melo; Isabel Marques Carreira;
PUBLISHED: 2015, SOURCE: CHROMOSOME RESEARCH, VOLUME: 23
AUTHORS: Alexandra Mascarenhas; Susana Isabel Ferreira; Luis Miguel Pires; Claudia Pais; Patricia Paiva; Miguel Branco; Ana Isabel Rei; Joana Barbosa Melo; Isabel Marques Carreira;
PUBLISHED: 2015, SOURCE: CHROMOSOME RESEARCH, VOLUME: 23
INDEXED IN: WOS
WOS18
TITLE: Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth Full Text
AUTHORS: Eunice Matoso; Fabiana Ramos; Jose Ferrao; Luis M Pires ; Alexandra Mascarenhas; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2014, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 7, ISSUE: 1
AUTHORS: Eunice Matoso; Fabiana Ramos; Jose Ferrao; Luis M Pires ; Alexandra Mascarenhas; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2014, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 7, ISSUE: 1
19
TITLE: New markers of early cardiovascular risk in multiple sclerosis patients: Oxidized-LDL correlates with clinical staging
AUTHORS: Filipe Palavra; Daniela Marado; Filipa Mascarenhas Melo; Jose Sereno; Edite Teixeira Lemos; Carla Cecilia Nunes; Grilo Goncalves; Frederico Teixeira ; Flavio Reis ;
PUBLISHED: 2013, SOURCE: DISEASE MARKERS, VOLUME: 34, ISSUE: 5
AUTHORS: Filipe Palavra; Daniela Marado; Filipa Mascarenhas Melo; Jose Sereno; Edite Teixeira Lemos; Carla Cecilia Nunes; Grilo Goncalves; Frederico Teixeira ; Flavio Reis ;
PUBLISHED: 2013, SOURCE: DISEASE MARKERS, VOLUME: 34, ISSUE: 5
INDEXED IN: 
Scopus WOS
Scopus WOS20
TITLE: 3q13.31 microdeletion syndrome: report of a patient and further evidence for the involvement of ZBTB20 gene Full Text
AUTHORS: Joana Barbosa Melo; Susana Isabel Ferreira; Luis Miguel Pires; Alexandra Mascarenhas; Margarida Venancio; Eunice Matoso; Isabel Marques Carreira;
PUBLISHED: 2013, SOURCE: CHROMOSOME RESEARCH, VOLUME: 21
AUTHORS: Joana Barbosa Melo; Susana Isabel Ferreira; Luis Miguel Pires; Alexandra Mascarenhas; Margarida Venancio; Eunice Matoso; Isabel Marques Carreira;
PUBLISHED: 2013, SOURCE: CHROMOSOME RESEARCH, VOLUME: 21
INDEXED IN: WOS
WOS