Carreira, Isabel M.

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Name
Carreira, Isabel M.
 
 
 
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Publications

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Date Issued:  [2010 TO 2020]

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Issue DateTitleAuthor(s)TypeAccess
12020An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia caseWafa, Abdulsamad; Jarjour, Rami A.; Aljapawe, Abdulmunim; ALmedania, Suher; Liehr, Thomas ; Melo, Joana B. ; Carreira, Isabel M. ; Othman, Moneeb A. K. ; Al-Achkar, WalidarticleopenAccess
22013Análise do padrão de metilação do carcinoma pavimento-celular da cavidade oralDomingues, Ana Beatriz Cainço masterThesisopenAccess
32012Avaliação de alterações genéticas e epigenéticas envolvidas na susceptibilidade a cancro na síndrome de DownGuarino, Patrícia Isabel Silva masterThesisopenAccess
42012Beta thalassemia major due to acquired uniparental disomy in a previously healthy adolescentBento, C. ; Maia, T. M. ; Milosevic, J. D. ; Carreira, I. M. ; Kralovics, R. ; Ribeiro, M. L. articleopenAccess
5May-2016BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patientsAlhourani, Eyad ; Othman, Moneeb A. K. ; Melo, Joana Barbosa ; Carreira, Isabel M. ; Grygalewicz, Beata; Vujić, Dragana; Zecević, Zeljko; Joksić, Gordana; Glaser, Anita ; Pohle, Beate; Schlie, Cordula; Hauke, Sven; Liehr, Thomas articleopenAccess
6Sep-2016Cachexia in patients with head and neck cancer undergoing radiotherapy or concurrent chemoradiotherapy : characterization, molecular mechanisms and relationshipsPedro, Nicole Sónia NetomasterThesisembargoedAccess
72012Can Biofluids Metabolic Profiling Help to Improve Healthcare during Pregnancy?Graça, Gonçalo ; Diaz, Sílvia O.; Pinto, Joana; Barros, António S.; Duarte, Iola F. ; Goodfellow, Brian J. ; Galhano, Eulália; Pita, Cristina; Almeida, Maria do Céu ; Carreira, Isabel M. ; Gil, Ana M.articleopenAccess
8Mar-2012Caracterização citogénica e genómica de pacientes com MAC (microftalmia, anoftalmia e coloboma)Estrela, Filipe João Santos masterThesisopenAccess
92013Caracterização do perfil genómico do Cancro da Bexiga - Contribuição para o desenvolvimento de uma metodologia de diagnóstico e monitorização molecularSantos, João Filipe Delgado dos masterThesisopenAccess
1025-Oct-2013Caracterização do perfil genómico do carcinoma pulmonarPortovedo, Sérgio Filipe JesusmasterThesisopenAccess
112015Characterization of the genetic and epigenetic profile of tongue squamous cell carcinomaLisboa, Sofia Matos masterThesisopenAccess
12Mar-2013Clinical characterization and genetic analysis in women with premature ovarian insuficciencyMachado, Andrea Suzana Teixeira Lopes masterThesisopenAccess
132015Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsCarreira, Isabel Marques ; Ferreira, Susana Isabel ; Matoso, Eunice ; Pires, Luís Miguel ; Ferrão, José ; Jardim, Ana ; Mascarenhas, Alexandra ; Pinto, Marta ; Lavoura, Nuno ; Pais, Claudia ; Paiva, Patrícia ; Simões, Lúcia ; Caramelo, Francisco ; Ramos, Lina ; Venâncio, Margarida ; Ramos, Fabiana; Beleza, Ana; Sá, Joaquim ; Saraiva, Jorge ; Melo, Joana Barbosa de articleopenAccess
142016Copy number variation analysis in retinal angiomatous proliferationTomás, Mariana Santos Vidal masterThesisembargoedAccess
152-May-2012Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome regionFerreira, Susana Isabel ; Matoso, Eunice ; Venâncio, Margarida ; Saraiva, Jorge ; Melo, Joana B. ; Carreira, Isabel Marques articleopenAccess
162015Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 geneMelo, Joana B. ; Estevinho, Alexandra ; Saraiva, Jorge; Ramos, Lina ; Carreira, Isabel M. articleopenAccess
172010Cytogenetic characterization of small supernumerary marker chromosomes : towards a genotype-phenotype correlationMelo, Maria Joana Lima Barbosa de doctoralThesisopenAccess
1823-Sep-2019Cytogenetics and Cytogenomics Evaluation in CancerRibeiro, Ilda Patrícia ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess
1915-Sep-2017Cytogenomic characterization and DNA methylation patterns of laryngeal cancerRibeiro, Maria Margarida Sá masterThesisclosedAccess
202014Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipoBarreto, Mariana Carvalho masterThesisopenAccess
2119-Mar-2015Desequilíbrios genómicos nas patologias do desenvolvimento e do comportamentoMatoso, Eunice Maria Ruas de Campos doctoralThesisembargoedAccess
222016Early detection and personalized treatment in oral cancer: the impact of omics approachesRibeiro, Ilda Patrícia ; Barroso, Leonor ; Marques, Francisco ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess
232010Efeitos celulares da radiação ionizante de 140 kev em linhas celularesOliveira, R. ; Abrantes, A. M. ; Rio, J. ; Gonçalves, A. C. ; Sarmento-Ribeiro, A. B. ; Carreira, I. M. ; Botelho, M. F. conferenceObjectopenAccess
24Apr-2011Efeitos da radiação ionizante em culturas celulares de amniócitos humanosOliveira, Rui Pedro Caetano Moreira de masterThesisopenAccess
2519-Dec-2017Effects of resistance exercise on endothelial progenitor cell mobilization in womenRibeiro, Fernando; Ribeiro, Ilda P. ; Gonçalves, Ana C. ; Alves, Alberto J.; Melo, Elsa ; Fernandes, Raquel; Costa, Rui; Ribeiro, Ana B. Sarmento ; Duarte, José A.; Carreira, Isabel M. ; Witkowski, Sarah; Oliveira, JoséarticleopenAccess
262011Establishment of primary cell cultures from lung tissue biopsies and study of the cellular metabolic responses to cisplatin and radiation exposureLadeirinha, Ana Filipa Ferreira masterThesisopenAccess
272012Estudo citogenético e molecular em indivíduos com défice cognitivo : impacto na área médico-legalPais, Claudia Sofia Augusto masterThesisopenAccess
282011Estudo da etiologia do autismo utilizando a técnica de MLPAAfonso, Tânia Sofia da Trindade masterThesisopenAccess
29Apr-2011Estudo de genética molecular de cardiomiopatia hipertróficaOliveira, Micaela Ferreira de masterThesisopenAccess
3022-Jun-2016Fibroblasts of Machado Joseph Disease patients reveal autophagy impairmentOnofre, Isabel ; Mendonça, Nuno ; Lopes, Sara ; Nobre, Rui J. ; Melo, Joana Barbosa ; Carreira, Isabel Marques ; Januário, Cristina ; Gonçalves, António Freire ; Almeida, Luís Pereira de articleopenAccess
31May-2018Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alterationPars, Selin; Cristo, Fernando; Inácio, José M.; Rosas, Graça; Carreira, Isabel Marques ; Melo, Joana Barbosa ; Mendes, Patrícia; Martins, Duarte Saraiva; Almeida, Luís Pereira de ; Maio, José; Anjos, Rui ; Belo, José A.articleopenAccess
322017Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alterationCristo, Fernando; Inácio, José M; Rosas, Graça; Carreira, Isabel Marques ; Melo, Joana Barbosa ; Almeida, Luís Pereira de ; Mendes, Patrícia; Martins, Duarte Saraiva; Maio, José; Anjos, Rui ; Belo, José A.articleopenAccess
332017Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumorRibeiro, Ilda Patrícia ; Marques, Francisco ; Barroso, Leonor ; Miguéis, Jorge ; Caramelo, Francisco ; Santos, André ; Julião, Maria J.; Melo, Joana B. ; Carreira, Isabel M. articleopenAccess
342018Genomic and epigenetic signatures associated with survival rate in oral squamous cell carcinoma patientsRibeiro, Ilda Patrícia ; Caramelo, Francisco ; Esteves, Luísa ; Oliveira, Camila ; Marques, Francisco ; Barroso, Leonor ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess
3521-Sep-2018Genomic Characterization of Monoclonal Gammopathies PatientsOliveira, Alexandra Maria de Jesus Couto masterThesisembargoedAccess
3624-Oct-2017Genomic predictive model for recurrence and metastasis development in head and neck squamous cell carcinoma patientsRibeiro, Ilda Patrícia ; Caramelo, Francisco ; Esteves, Luísa ; Menoita, Joana ; Marques, Francisco ; Barroso, Leonor ; Miguéis, Jorge ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess
372019Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids - the state of artRibeiro, Ilda Patrícia ; Melo, Joana Barbosa de ; Carreira, Isabel Marques articleopenAccess
3819-Dec-2017Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applicationsRibeiro, Ilda Patrícia Tavares da Silva doctoralThesisembargoedAccess
392015High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemiaOthman, Moneeb A. K. ; Melo, Joana B. ; Carreira, Isabel M. ; Rincic, Martina ; Glaser, Anita ; Grygalewicz, Beata; Gruhn, Bernd; Wilhelm, Kathleen; Rittscher, Katharina; Meyer, Britta; Silva, Maria Luiza Macedo; de Jesus Marques Salles, Terezinha; Liehr, Thomas articleopenAccess
4019-Mar-2012High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohortSantos, Susana; Marques, Vanda; Pires, Marina Joana Dias ; Silveira, Leonor; Oliveira, Helena; Lança, Vasco; Brito, Dulce; Madeira, Hugo; Esteves, J Fonseca; Freitas, António; Carreira, Isabel M. ; Gaspar, Isabel M.; Monteiro, Carolino; Fernandes, Alexandra R.articleopenAccess
412011A importância de rearranjos subteloméricos no atraso mentalBrás, Marta Isabel Tomás masterThesisopenAccess
422015Isochromosome 17q in Chronic Lymphocytic LeukemiaAlhourani, Eyad ; Rincic, Martina ; Melo, Joana B. ; Carreira, Isabel M. ; Glaser, Anita ; Pohle, Beate; Schlie, Cordula; Liehr, Thomas articleopenAccess
433-Sep-2018Metabolomics, Genetics and Environment: a Novel Integrative Approach to Age-related Macular DegenerationLaíns, Inês Maria de Carvalho doctoralThesisopenAccess
44Jan-2010Microdeletion 22QII.2 : a reason to feel blue?Gameiro, Pedro Centeio Ferraz masterThesisopenAccess
452017MLPA analysis in a cohort of patients with autismPeixoto, Sara ; Melo, Joana B. ; Ferrão, José ; Pires, Luís M. ; Lavoura, Nuno ; Pinto, Marta ; Oliveira, Guiomar ; Carreira, Isabel M. articleopenAccess
46Feb-2020Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glandsThielker, Jovanna; Weise, Anja; Othman, Moneeb A. K. ; Carreira, Isabel M. ; Melo, Joana B. ; Von Eggeling, Ferdinand; Guntinas-Lichius, Orlando; Ziegler, Monika; Liehr, Thomas articleopenAccess
472020A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndromeWafa, Abdulsamad; Jarjour, Rami A; Alolabi, Doaa; Liehr, Thomas ; Hamdan, Othman; Melo, Joana B. ; Carreira, Isabel M. ; Othman, Moneeb A. K. ; Al-Achkar, WalidarticleopenAccess
482014A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic LeukemiaOthman, Moneeb A. K. ; Rincic, Martina ; Melo, Joana B. ; Carreira, Isabel M. ; Alhourani, Eyad ; Hunstig, Friederike ; Glaser, Anita ; Liehr, Thomas articleopenAccess
492014Otimização da técnica de array CGH em diagnóstico pré-natalGonçalves, João Carlos Martins masterThesisopenAccess
5018-Jul-2017Perfil genético em colangiocarcinoma.Tavares, Inês Moura masterThesisclosedAccess
51Mar-2013Perfil genómico e caracterização clínica de crianças com sindrome X-frágilVitorino, Ana Sofia Pereira Costa Silva masterThesisopenAccess
52Oct-2014Prenatal diagnosis : state of the artCosta, Claúdia Sofia Fernandes da masterThesisopenAccess
5310-Sep-2020Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profilesEsteves, Luísa ; Caramelo, Francisco ; Ribeiro, Ilda Patrícia ; Carreira, Isabel M. ; Melo, Joana Barbosa de articleopenAccess
542011Relação genótipo-fenótipo em indivíduos com autismoPeixoto, Sara Cecília Carneiro masterThesisopenAccess
55Jul-2013Relatório de estágio : mestrado em análises clínicasSilva, Liliana Sofia OliveiramasterThesisopenAccess
562014Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplicationPires, Renato ; Pires, Luís M. ; Vaz, Sara O. ; Maciel, Paula ; Anjos, Rui ; Moniz, Raquel ; Branco, Claudia C. ; Cabral, Rita ; Carreira, Isabel M. ; Mota-Vieira, Luisa articleopenAccess
571-Aug-2018Stroma-derived IL-6, G-CSF and Activin-A mediated dedifferentiation of lung carcinoma cells into cancer stem cellsRodrigues, Carlos F. D. ; Serrano, Eurico ; Patrício, Maria I.; Val, Mariana; Albuquerque, Patrícia; Fonseca, João ; Gomes, Célia M. F. ; Abrunhosa, Antero ; Paiva, Artur ; Carvalho, Lina ; Botelho, Maria F. ; Almeida, Luís ; Carreira, Isabel M. ; Alpoim, Maria Carmen articleopenAccess
5822-Aug-2015A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two casesVaz, Sara O. ; Pires, Renato ; Pires, Luís M. ; Carreira, Isabel M. ; Anjos, Rui ; Maciel, Paula ; Mota-Vieira, Luisa articleopenAccess
59May-2020Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasisRibeiro, Ilda Patrícia ; Caramelo, Francisco ; Ribeiro, Margarida ; Machado, Ana; Miguéis, Jorge ; Marques, Francisco; Carreira, Isabel Marques ; Melo, Joana Barbosa articleopenAccess
6020-Jul-2010X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanationFerreira, Susana I. ; Matoso, Eunice ; Pinto, Marta ; Almeida, Joana ; Liehr, Thomas ; Melo, Joana B. ; Carreira, Isabel M. articleopenAccess