Isabel Maria Marques Carreira
AuthID: R-000-6CD
41
TITLE: Tremor is a major feature of 9p13 deletion syndrome Full Text
AUTHORS: Susana Isabel Ferreira; Giacomo Cinnirella; Lina Ramos; Antonio Suppa; Luis Miguel Pires; Anna Maria Nardone; Letizia Camerota; Silvia Lanciotti; Cinzia Galasso; Fernando De Maio; Joana Barbosa de Melo; Isabel Marques Carreira; Francesco Brancati;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
AUTHORS: Susana Isabel Ferreira; Giacomo Cinnirella; Lina Ramos; Antonio Suppa; Luis Miguel Pires; Anna Maria Nardone; Letizia Camerota; Silvia Lanciotti; Cinzia Galasso; Fernando De Maio; Joana Barbosa de Melo; Isabel Marques Carreira; Francesco Brancati;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
INDEXED IN: 
Scopus 
WOS
Scopus WOS42
TITLE: Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profiles Full Text
AUTHORS: Luisa Esteves; Francisco Caramelo; Ilda Patricia Ribeiro; Isabel M Carreira; Joana Barbosa de Melo;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
AUTHORS: Luisa Esteves; Francisco Caramelo; Ilda Patricia Ribeiro; Isabel M Carreira; Joana Barbosa de Melo;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS43
TITLE: A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome Full Text
AUTHORS: Abdulsamad Wafa; Rami A Jarjour; Doaa Alolabi; Thomas Liehr; Othman Hamdan; Joana B Melo; Isabel M Carreira; Moneeb A K Othman; Walid Al Achkar;
PUBLISHED: 2020, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 13, ISSUE: 1
AUTHORS: Abdulsamad Wafa; Rami A Jarjour; Doaa Alolabi; Thomas Liehr; Othman Hamdan; Joana B Melo; Isabel M Carreira; Moneeb A K Othman; Walid Al Achkar;
PUBLISHED: 2020, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS44
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
45
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
Scopus46
TITLE: Molecular characterization of dilated cardiomyopathy
AUTHORS: Isabel Marques Carreira;
PUBLISHED: 2019, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 38, ISSUE: 2
AUTHORS: Isabel Marques Carreira;
PUBLISHED: 2019, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 38, ISSUE: 2
INDEXED IN: WOS
WOS47
TITLE: Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
AUTHORS: Thomas Liehr; Isabel M Carreira; Zsofia Balogh; Elena D Dominguez Garrido; Irmgard Verdorfer; Domenico A Coviello; Lina Florentin; Hans Scheffer; Martina Rincic; Heather E Williams;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 8
AUTHORS: Thomas Liehr; Isabel M Carreira; Zsofia Balogh; Elena D Dominguez Garrido; Irmgard Verdorfer; Domenico A Coviello; Lina Florentin; Hans Scheffer; Martina Rincic; Heather E Williams;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 8
INDEXED IN: Scopus WOS
Scopus WOS48
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: Roberto R C Capela de Matos; Daniela R N Ney Garcia; Moneeb A K Othman; Gerson Moura Ferreira; Joana B Melo; Isabel M Carreira; Claus Meyer; Rolf Marschalek; Elaine S Costa; Marcelo G P Land; Thomas Liehr; Raul C Ribeiro; Maria Luiza M Silva;
PUBLISHED: 2019, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 157, ISSUE: 4
AUTHORS: Roberto R C Capela de Matos; Daniela R N Ney Garcia; Moneeb A K Othman; Gerson Moura Ferreira; Joana B Melo; Isabel M Carreira; Claus Meyer; Rolf Marschalek; Elaine S Costa; Marcelo G P Land; Thomas Liehr; Raul C Ribeiro; Maria Luiza M Silva;
PUBLISHED: 2019, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 157, ISSUE: 4
INDEXED IN: Scopus WOS
Scopus WOS49
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
WOS50
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