Isabel Maria Marques Carreira
AuthID: R-000-6CD
61
TITLE: Regulatory landscape of providing information on newborn screening to parents across Europe Full Text
AUTHORS: Franková, V; Driscoll, RO; Jansen, ME; Loeber, JG; Kožich, V; Bonham, J; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Fingerhut, R; Kuš, IB; Girginoudis, P; Groselj, U; Hougaard, D; Knapková, M; la Marca, G; Malniece, I; Nanu, MI; Nennstiel, U; ...More
PUBLISHED: 2020, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 1
AUTHORS: Franková, V; Driscoll, RO; Jansen, ME; Loeber, JG; Kožich, V; Bonham, J; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Fingerhut, R; Kuš, IB; Girginoudis, P; Groselj, U; Hougaard, D; Knapková, M; la Marca, G; Malniece, I; Nanu, MI; Nennstiel, U; ...More
PUBLISHED: 2020, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 1
62
TITLE: Prevalence of Cytogenetic Abnormalities and FMR1 Gene Premutation in a Portuguese Population with Premature Ovarian Insufficiency [Prevalência de Anomalias Citogenéticas e da Pré-Mutação do Gene FMR1 numa População Portuguesa com Insuficiência Ovárica Prematura] Full Text
AUTHORS: Neves, AR; Pais, AS; Ferreira, SI; Ramos, V; Carvalho, MJ; Estevinho, A; Matoso, E; Geraldes, F; Marques Carreira, I; Águas, F;
PUBLISHED: 2020, SOURCE: Acta Medica Portuguesa, VOLUME: 33, ISSUE: 13
AUTHORS: Neves, AR; Pais, AS; Ferreira, SI; Ramos, V; Carvalho, MJ; Estevinho, A; Matoso, E; Geraldes, F; Marques Carreira, I; Águas, F;
PUBLISHED: 2020, SOURCE: Acta Medica Portuguesa, VOLUME: 33, ISSUE: 13
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID63
TITLE: Koolen-de Vries syndrome - National Case Series with clinical and molecular characterization Full Text
AUTHORS: Soares, MP; Rodrigues, M; Dupont, J; Medeira, A; Freixo, J; Nunes, S; Cordeiro, I; Travessa, A; Soares, G; Fortuna, A; Ramos, F; Sa, J; Rocha, S; Figueiredo, C; Mendonca, C; Tapadinhas, F; Silveira Santos, R; Custodio, S; Barreta, A; Serafim, S; ...More
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
AUTHORS: Soares, MP; Rodrigues, M; Dupont, J; Medeira, A; Freixo, J; Nunes, S; Cordeiro, I; Travessa, A; Soares, G; Fortuna, A; Ramos, F; Sa, J; Rocha, S; Figueiredo, C; Mendonca, C; Tapadinhas, F; Silveira Santos, R; Custodio, S; Barreta, A; Serafim, S; ...More
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: 
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Handle
WOS Handle64
TITLE: Urine Nuclear Magnetic Resonance (NMR) Metabolomics in Age-Related Macular Degeneration Full Text
AUTHORS: Lains, I; Duarte, D; Barros, AS ; Martins, AS; Carneiro, TJ; Gil, JQ; Miller, JB; Marques, M; Mesquita, TS; Barreto, P; Kim, IK; Cachulo, MD; Vavvas, DG; Carreira, IM; Murta, JN; Silva, R; Miller, JW; Husain, D; Gil, AM;
PUBLISHED: 2019, SOURCE: JOURNAL OF PROTEOME RESEARCH, VOLUME: 18, ISSUE: 3
AUTHORS: Lains, I; Duarte, D; Barros, AS ; Martins, AS; Carneiro, TJ; Gil, JQ; Miller, JB; Marques, M; Mesquita, TS; Barreto, P; Kim, IK; Cachulo, MD; Vavvas, DG; Carreira, IM; Murta, JN; Silva, R; Miller, JW; Husain, D; Gil, AM;
PUBLISHED: 2019, SOURCE: JOURNAL OF PROTEOME RESEARCH, VOLUME: 18, ISSUE: 3
65
TITLE: Molecular characterization of dilated cardiomyopathy [Caracterização molecular da miocardiopatia dilatada]
AUTHORS: Carreira, IM;
PUBLISHED: 2019, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 38, ISSUE: 2
AUTHORS: Carreira, IM;
PUBLISHED: 2019, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 38, ISSUE: 2
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID66
TITLE: Molecular characterization of dilated cardiomyopathy
AUTHORS: Carreira, IM;
PUBLISHED: 2019, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 38, ISSUE: 2
AUTHORS: Carreira, IM;
PUBLISHED: 2019, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 38, ISSUE: 2
67
TITLE: Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries Full Text
AUTHORS: Liehr, T; Carreira, IM; Balogh, Z; Garrido, ED; Verdorfer, I; Coviello, DA; Florentin, L; Scheffer, H; Rincic, M; Williams, HE;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 8
AUTHORS: Liehr, T; Carreira, IM; Balogh, Z; Garrido, ED; Verdorfer, I; Coviello, DA; Florentin, L; Scheffer, H; Rincic, M; Williams, HE;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 8
68
TITLE: A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia
AUTHORS: de Matos, RRC; Garcia, DRN; Othman, MAK; Ferreira, GM; Melo, JB; Carreira, IM; Meyer, C; Marschalek, R; Costa, ES; Land, MGP; Liehr, T; Ribeiro, RC; Silva, MLM;
PUBLISHED: 2019, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 157, ISSUE: 4
AUTHORS: de Matos, RRC; Garcia, DRN; Othman, MAK; Ferreira, GM; Melo, JB; Carreira, IM; Meyer, C; Marschalek, R; Costa, ES; Land, MGP; Liehr, T; Ribeiro, RC; Silva, MLM;
PUBLISHED: 2019, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 157, ISSUE: 4
69
TITLE: 16p11.2 microdeletion: The most common chromosomal anomaly associated with obesity Full Text
AUTHORS: Joana Rosmaninho salgado; Luis Miguel Pires; Isabel M Carreira; Joana Barbosa Melo; Pedro Louro ; Joaquim Sa; Maria Margarida Venancio; Pedro Almeida; Sara Ribeiro; Jorge M Saraiva; Sergio B Sousa;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 49
AUTHORS: Joana Rosmaninho salgado; Luis Miguel Pires; Isabel M Carreira; Joana Barbosa Melo; Pedro Louro ; Joaquim Sa; Maria Margarida Venancio; Pedro Almeida; Sara Ribeiro; Jorge M Saraiva; Sergio B Sousa;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 49
INDEXED IN: WOS
WOS70
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
WOS