ISABEL MARIA MARQUES CARREIRA (491F-6A7C-B7A4)

Curriculum Vitae

ISABEL MARIA MARQUES CARREIRA

Isabel Maria Marques Carreira, Full Professor, Faculty of Medicine, University of Coimbra (FMUC) with Habilitation in Biomedicine since 2010. She got her PhD in Human Genetics, 1992 by the University of the Witwatersrand with its recognition in Biomedicine, 1993 by the University of Coimbra Faculty of Medicine. She is a Sub-Director for Services, Management, Organization and Human Resources of FMUC since 2017 and has also been member of the Faculty of Medicine Assembly and of the Scientific Council. She is also Head of the Cytogenetics and Genomics Laboratory in FMUC (LCG-FMUC), since 1992. Researcher and member of the Scientific Council of the Coimbra Institute for Clinical and Biomedical Research (iCBR), Coordinator of CIMAGO (Centre of Investigation in Environment, Genetics and Oncobiology) of FMUC, since 2009, where she coordinates the research group of Genetics. She is the PI of one research line in the consortium Center for Innovative Biomedicine and Biotechnology (CIBB) - Biomarkers in Translational and Clinical Oncology. Member of several scientific societies, namely: - Portuguese Society of Human Genetics (SPGH) where was president twice (2006 and 2019) and is the coordinator since 2015 of the Commission for the Specialties of Clinical and Laboratory and Medical Genetics; - European Cytogenomics Association(ECA) where she is co-chair of the working group in small marker chromossomes; - European Society of Human Genetics (ESHG) where she integrates as Co-Chair of the branch of Clinical Laboratory Genetics of the European Board of Medical Genetics (EBMG) of which she was president 2021/22. The branch of Clinical Laboratory Genetics has been responsible for the evaluation and attribution of the European titles on Clinical Laboratory Genetics (ErCLG) (>400 titles all over Europe). She is also Member (titular) of the National Academy of Medicine of Portugal. She had a long diagnostic laboratory genetics activity (LCG-FMUC) at the Faculty of Medicine of the University of Coimbra that goes from Cytogenetics, Molecular Cytogenetics, Cytogenomics and Molecular Genetics (PCRs, MLPA, from Sanger sequencing to NGS) (more than 100 000 tests). She has a very intense teaching and research activity mainly in the Faculty of Medicine of the University of Coimbra (FMUC) for students from the 2nd and 3rd cycle, where she is responsible as “Regente” of 13 subjects 2 of which in a collaboration with the Medical course in Açores and 2 with the Faculty of Medicine in Cape Verde. She created at FMUC a Masters in Clinical Laboratory Genetics that is currently in its 4th edition and running at full capacity. She has supervised and/or co-supervised over 10 PhD Thesis and more than 60 Master Thesis, coordinator/collaborator of 52 Investigation Projects. She published over 130 papers (H-index=30; citations 2946), more than 200 abstracts in international and national journals with peer review, 11 Book Chapters. She performed 200 invited talks in congresses and seminars, received over 20 prizes and awards and presented over 450 presentations in Congress.

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Identificação

Identificação pessoal

Nome completo: ISABEL MARIA MARQUES CARREIRA

Nomes de citação

Carreira, Isabel

Identificadores de autor

Ciência ID: 491F-6A7C-B7A4
ORCID iD: 0000-0001-6842-1707
Researcher Id: C-7711-2018
Scopus Author Id: 55915636100

Domínios de atuação

Ciências Médicas e da Saúde - Medicina Básica - Genética Humana

Idiomas

Idioma	Conversação	Leitura	Escrita	Compreensão	Peer-review
Português	Utilizador proficiente (C1)	Utilizador proficiente (C1)	Utilizador proficiente (C1)	Utilizador proficiente (C1)
Inglês	Utilizador proficiente (C1)	Utilizador proficiente (C1)	Utilizador proficiente (C1)	Utilizador proficiente (C1)

Formação

	Grau	Classificação
2010 Concluído	Biomedicina (Título de Agregado) Universidade de Coimbra, Portugal "n/a" (TESE/DISSERTAÇÃO)	n/a
1993 Concluído	Doutoramento (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
1992 Concluído	Doutoramento em Genética Humana (Doutoramento) University of the Witwatersrand, África do Sul "Variable Number of Tandem Repeat Polymorphisms of Man In Southern Africa" (TESE/DISSERTAÇÃO)	Distinção
1992 Concluído	Biologia Celular e Biotecnologia (Mestrado) Universidade de Lisboa Faculdade de Ciências, Portugal	equivalência
1986 Concluído	Mestrado em Genética (Mestrado) University of the Witwatersrand, África do Sul "Development of a method to detect small amounts of DNA in ultra-thin sections." (TESE/DISSERTAÇÃO)	Distinction
1980 Concluído	BSc Honours (Licenciatura) University of the Witwatersrand, África do Sul	upper second

Percurso profissional

Ciência

	Categoria Profissional Instituição de acolhimento	Empregador
2017 - Atual	Investigador (Investigação)	Universidade de Coimbra Faculdade de Medicina, Portugal
	Instituto Investigação Clinica e Biomédica de Coimbra - CIMAGO, Portugal
2009 - Atual	Gestão de Ciência e Tecnologia	Universidade de Coimbra Faculdade de Medicina, Portugal
	CIMAGO - Centro de Investigação Meio Ambiente Genética e Oncobiologia, Portugal

Docência no Ensino Superior

	Categoria Profissional Instituição de acolhimento	Empregador
2019 - Atual	Professor Catedrático (Docente Universitário)	University of Coimbra - Faculty of Medicine, Portugal
	Iniversity of Coimbra - Faculty of Medicine, Portugal
2012 - 2018	Professor Associado (Docente Universitário)	Universidade de Coimbra Faculdade de Medicina, Portugal
	Universidade de Coimbra Faculdade de Medicina, Portugal
1997 - 2012	Professor Auxiliar (Docente Universitário)	Universidade de Coimbra Faculdade de Medicina, Portugal
	Universidade de Coimbra Faculdade de Medicina, Portugal
1992 - 1997	Professor Auxiliar Convidado (Docente Universitário)	Universidade de Coimbra Faculdade de Medicina, Portugal
	Universidade de Coimbra Faculdade de Medicina, Portugal

Cargos e Funções

	Categoria Profissional Instituição de acolhimento	Empregador
2017/02 - Atual	Subdirector de Unidade Orgânica	Universidade de Coimbra Faculdade de Medicina, Portugal
	Universidade de Coimbra Faculdade de Medicina, Portugal
1992 - Atual	Dirigente de laboratório, instituto, museu, centro ou observatório	Universidade de Coimbra Faculdade de Medicina, Portugal
	Universidade de Coimbra Faculdade de Medicina, Portugal

Projetos

Bolsa

	Designação	Financiadores
2018 - Atual	Caracterização Molecular de Colangiocarcinoma e Carcinoma Hepatocelular. CIMAGO 10/18 Outra Universidade de Coimbra Faculdade de Medicina, Portugal	Liga Portuguesa Contra o Cancro Núcleo Regional do Centro Em curso
2020 - 2021	Avaliação Citogenómica de Tumores de Baixo Grau Associados a Epilepsia Refratária. 03/2020 Bolseiro de Cientista Convidado Liga Portuguesa Contra o Cancro Núcleo Regional do Centro, Portugal	Liga Portuguesa Contra o Cancro Núcleo Regional do Centro Em curso
2019 - 2020	Cytogenomic Characterization of Monoclonal Gammopathy Patients. CIMAGO 3/19 Bolseiro de Mestrado Universidade de Coimbra Faculdade de Medicina, Portugal	Liga Portuguesa Contra o Cancro Núcleo Regional do Centro Em curso

Projeto

	Designação	Financiadores
2021/01/01 - 2025/12/31	Center for Innovative Biomedicine and Biotechnology - Associate Laboratory LA/P/0058/2020 10.54499/LA/P/0058/2020 Universidade de Coimbra, Portugal Universidade Nova de Lisboa ¿Laboratório de Instrumentação Engenharia Biomédica e Física da Radiação, Portugal Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal	Fundação para a Ciência e a Tecnologia Em curso
2019/01/01 - 2019/12/31	CNC. IBILI UID/NEU/04539/2019 Universidade de Coimbra, Portugal Universidade Nova de Lisboa ¿Laboratório de Instrumentação Engenharia Biomédica e Física da Radiação, Portugal Universidade de Coimbra Instituto de Ciências Nucleares Aplicadas à Saúde, Portugal Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2015/01/01 - 2018/06/30	Next-Gen Cytogenetics Enters Clinical Care and Annotates the Human Genome HMSP-ICT/0016/2013 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Faculdade de Medicina, Portugal Centro Hospitalar e Universitário de Coimbra EPE, Portugal Universidade de Coimbra, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2013/05/01 - 2015/09/30	Cancer stem cells and tumor progression: from molecular mechanisms to clinical consequences PTDC/BBB-BQB/2450/2012 Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2011/01/01 - 2012/12/31	Strategic Project - LA 1 - 2011-2012 PEst-C/SAU/LA0001/2011 Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2008/01/15 - 2011/09/30	A Nuclear Magnetic Resonance(NMR)- based metabonomic study of health disorders of fetus and mother during pregnancy: towards biochemical characterisation and early diagnostics PTDC/QUI/66523/2006 Universidade de Aveiro, Portugal Universidade de Aveiro CICECO, Portugal Centro Hospitalar e Universitário de Coimbra EPE, Portugal Universidade de Coimbra, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2008/01/15 - 2011/09/30	A Nuclear Magnetic ResonanceNMR- based metabonomic study of health disorders of fetus and mother during pregnancy: towards biochemical characterisation and early diagnostics PTDC/QUI/66523/2006 Universidade de Aveiro, Portugal Universidade de Aveiro CICECO, Portugal Centro Hospitalar e Universitário de Coimbra EPE, Portugal Universidade de Coimbra, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2008/01/15 - 2011/09/13	Metabolic profiling and biochemical differentiation of human lung tumours by Nuclear Magnetic Resonance (NMR) methods PTDC/QUI/68017/2006 Universidade de Aveiro, Portugal Universidade de Aveiro CICECO, Portugal Universidade de Coimbra, Portugal Hospitais da Universidade de Coimbra, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2008/01/15 - 2011/09/13	Metabolic profiling and biochemical differentiation of human lung tumours by Nuclear Magnetic Resonance NMR methods PTDC/QUI/68017/2006 Universidade de Aveiro, Portugal Universidade de Aveiro CICECO, Portugal Universidade de Coimbra, Portugal Centro Hospitalar e Universitario de Coimbra EPE Campus dos Hospitais da Universidade de Coimbra, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2005/09/01 - 2008/03/31	Somatic expression of PDHA2 gene - a long dreamed therapy POCI/SAU-MMO/57052/2004 Universidade de Lisboa Faculdade de Farmácia, Portugal Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Portugal Universidade de Coimbra Faculdade de Medicina, Portugal	Fundação para a Ciência e a Tecnologia Concluído
2005/09/01 - 2008/03/31	Somatic expression of PDHA2 gene - a long dreamed therapy POCI/SAU-MMO/57052/2004 Universidade de Lisboa Faculdade de Farmácia, Portugal Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Portugal Universidade de Coimbra Faculdade de Medicina, Portugal	Fundação para a Ciência e a Tecnologia Concluído

Outro

	Designação	Financiadores
2021 - Atual	O Papel das Biópsias Líquidas no Diagnóstico e na Monitorização do Cancro Oral LPCC/ACIMAGO Investigador Liga Portuguesa Contra o Cancro Núcleo Regional do Centro, Portugal
2018 - Atual	Proteomic profiling in the Head and Neck Squamous Cell Carcinoma to identify diagnosis and prognosis biomarkers CIMAGO 5/18 Outra Universidade de Coimbra Faculdade de Medicina, Portugal	Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia Em curso
2018 - Atual	Caracterização Molecular de Colangiocarcinoma e Carcinoma Hepatocelular. LPCC/ACIMAGO Investigador Liga Portuguesa Contra o Cancro Núcleo Regional do Centro, Portugal	Em curso
2018 - Atual	Proteomic profiling in the Head and Neck Squamous Cell Carcinoma to identify diagnosis and prognosis biomarkers. 05/18 Investigador responsável Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia, Portugal
2016 - Atual	Head and Neck Squamous Cell Carcinoma: genomic and transcriptomic profiling in the pursuit of biomarkers CIMAGO 9/14 Outra Universidade de Coimbra Faculdade de Medicina, Portugal	Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia Em curso
2014 - Atual	Etiologia genética das cardiopatias congénitas PTDC/BEX-BID/0646/2014 Outra Hospital do Divino Espírito Santo de Ponta Delgada EPE, Portugal	Associação para a Inovação e Desenvolvimento da FCT Concluído
2002 - Atual	Pesquisa por FISH e MLPA da região crítica dos cromossomas 22q11.2 e 10p13p14 em cardiopatias complexas. Comparação da eficiência das duas tecnologias. Fonte de financiamento nº 300283 Outra Fundação Calouste Gulbenkian, Portugal	Fundação Calouste Gulbenkian Concluído
2017 - 2019	Estudo de novos fatores de prognóstico genético em tumores vesicais. 1/17 Outra	Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia Em curso
2015 - 2017	Caquexia em doentes com cancro da cabeça e pescoço submetidos a radioterapia ou quimioterapia: caracterização, associações e mecanismos moleculares. ICarreira.GAI2015 Outra Universidade de Coimbra Faculdade de Medicina, Portugal	Universidade de Coimbra Faculdade de Medicina Concluído
2012 - 2016	Avaliação do perfil genético do carcinoma epidermóide da cavidade oral pela técnica MLPA (Multiplex Ligation-dependent Probe Amplification) CIMAGO 17/12 Outra Universidade de Coimbra Faculdade de Medicina, Portugal	Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia Concluído
2001 - 2004	Avaliação por Fluorescent in situ hybridization – FISH das regiões subteloméricas em indivíduos com atraso mental idiopático. Diário República nº11, Série nº34, 9-02-2001, página 27499. Outra Centro Hospitalar e Universitário de Coimbra EPE, Portugal	Concluído

Produções

Publicações

Artigo em conferência	Tavares, Inês Moura; Ribeiro, Ilda P.; Pais, Cláudia; Laranjo, Mafalda; Jardim, Ana; Mascarenhas, Alexandra; Zuzarte, Mónica; et al. "Cytotoxicity assessment of endodontic sealers: metabolic activity, morphology and chromosomal alterations". 2021. Soares, Marta P.; Rodrigues, Márcia; Dupont, Juliette; Medeira, Ana; Freixo, João; Nunes, Sofia; Cordeiro, Isabel; et al. "Koolen-de Vries syndrome – National Case Series with clinical and molecular characterization". 2019. David, Dezso; Freixo, João; Marques, Bárbara; Carvalho, Inês; Tkachenko, Natália; Oliva-Teles, Natália; Marques, Mariana; et al. "Early results of next-gen cytogenetics implementation in Portugal". 2016. David, Dezso; Oliva-Teles, Natália; Freixo, João; Fonseca e Silva, ML; Fortuna, Ana; Tkachenko, Natália; Carvalho, Inês; et al. "Citogenética de Próxima Geração: Implementação e primeiros resultados em Portugal". 2016. David, Dezso; Freixo, João; Carvalho, Inês; Tkachenko, Natalia; Oliva Teles, Natália; Marques, Bárbara; Alves, Ana Cristina; et al. "Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearrangements". 2015. Ramos, Lina; Jorge, Paula; Marques, Bárbara; Avila, Madalena; Rendeiro, Paula; Quelhas, Maria Dulce; Melo, Joana B.; Marques Carreira, Isabel. "The Clinical Laboratory Genetics profession in Portugal". 2013. Pires, Ana Salomé; Pinto, Marta; Silveira, Paula; Brito, Ana Filipa; Fonseca, Sérgio; Castro, Ismael; Diaz, Sílvia; et al. "Cytogenetic Alterations Induced by Radiation in Amniocytes". 2012.
Artigo em revista	Luísa Esteves; Francisco Caramelo; Domingos Roda; Isabel Marques Carreira; Joana Barbosa Melo; Ilda Patrícia Ribeiro; Toshiyuki Sawaguchi. "Identification of Novel Molecular and Clinical Biomarkers of Survival in Glioblastoma Multiforme Patients: A Study Based on The Cancer Genome Atlas Data". BioMed Research International (2024): https://doi.org/10.1155/2024/5582424. 10.1155/2024/5582424 Roque, Ricardo; Ribeiro, Ilda Patrícia; Figueiredo-Dias, Margarida; Gourley, Charlie; Carreira, Isabel Marques. "Current Applications and Challenges of Next-Generation Sequencing in Plasma Circulating Tumour DNA of Ovarian Cancer". Biology 13 2 (2024): 88. http://dx.doi.org/10.3390/biology13020088. Publicado • 10.3390/biology13020088 Liehr, Thomas; Ziegler, Monika; Person, Luisa; Kankel, Stefanie; Padutsch, Niklas; Weise, Anja; Weimer, Jörg Paul; et al. "Small supernumerary marker chromosomes derived from human chromosome 11". Frontiers in Genetics 14 (2023): http://dx.doi.org/10.3389/fgene.2023.1293652. 10.3389/fgene.2023.1293652 José Carlos Cardoso; Francisca Alves; Rebeca Calado; Mariana Batista; Isabel Marques Carreira; Oscar Tellechea. "Basal cell carcinomas of the scalp after radiotherapy for tinea capitis: Clinicopathological study in a case series of 96 patients with analysis of 427 tumours". Australasian Journal of Dermatology (2023): https://doi.org/10.1111/ajd.13940. 10.1111/ajd.13940 Noites, R.; Tavares, I.; Cardoso, M.; Carreira, I.M.; Bartolomeu, M.; Duarte, A.S.; Ribeiro, I.P.. "Human Gingival Fibroblasts Response to Different Endodontic Sealers: An In Vitro Study". Applied Sciences (Switzerland) 13 19 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85174208407&partnerID=MN8TOARS. 10.3390/app131910976 Lapa, B.S.; Costa, M.I.; Figueiredo, D.; Jorge, J.; Alves, R.; Monteiro, A.R.; Serambeque, B.; et al. "AZD-7648, a DNA-PK Inhibitor, Induces DNA Damage, Apoptosis, and Cell Cycle Arrest in Chronic and Acute Myeloid Leukemia Cells". International Journal of Molecular Sciences 24 20 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85175266994&partnerID=MN8TOARS. 10.3390/ijms242015331 Martins-Marques, T.; Witschas, K.; Ribeiro, I.; Zuzarte, M.; Catarino, S.; Ribeiro-Rodrigues, T.; Caramelo, F.; et al. "Cx43 can form functional channels at the nuclear envelope and modulate gene expression in cardiac cells". Open Biology 13 11 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85175676756&partnerID=MN8TOARS. 10.1098/rsob.230258 Liehr, T.; Ziegler, M.; Person, L.; Kankel, S.; Padutsch, N.; Weise, A.; Weimer, J.P.; et al. "Small supernumerary marker chromosomes derived from human chromosome 11". Frontiers in Genetics 14 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85181238274&partnerID=MN8TOARS. 10.3389/fgene.2023.1293652 José Carlos Cardoso; Francisca Alves; Isabel Marques Carreira; Oscar Tellechea. "Basal Cell Carcinomas After Radiotherapy Show More Frequent Follicular Differentiation Than Tumors From Sun-Exposed Areas: Immunohistochemical Study With a Special Focus on Infundibulocystic Basal Cell Carcinoma". The American Journal of Dermatopathology 44 12 (2022): 879-885. http://dx.doi.org/10.1097/dad.0000000000002321. 10.1097/dad.0000000000002321 Isabel M Carreira; Zandra Deans; Joo Wook Ahn; Isabel M. Carreira; Elisabeth Dequeker; Mick Henderson; Luca Lovrecic; et al. "Recommendations for reporting results of diagnostic genomic testing". European Journal of Human Genetics 30 9 (2022): 1011-1016. http://dx.doi.org/10.1038/s41431-022-01091-0. 10.1038/s41431-022-01091-0 Ribeiro, Ilda Patrícia; Esteves, Luísa; Caramelo, Francisco; Carreira, Isabel; Melo, Joana Barbosa. "Integrated Multi-Omics Signature Predicts Survival in Head and Neck Cancer". Cells 11 16 (2022): 2536. http://dx.doi.org/10.3390/cells11162536. 10.3390/cells11162536 Isabel M Carreira. "The need for recognition of core professional groups in genetics healthcare services in Europe". European Journal of Human Genetics 30 6 (2022): 639-640. http://dx.doi.org/10.1038/s41431-022-01080-3. 10.1038/s41431-022-01080-3 Capela de Matos, RR; Othman, MAK; Ferreira, GM; Monteso, KCA; de Souza, MT; Rouxinol, M; Melo, JB; et al. "Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21". Cancer Genetics 262-263 (2022): 16-22. http://dx.doi.org/10.1016/j.cancergen.2021.12.003. 10.1016/j.cancergen.2021.12.003 Costa, Maria Inês; Lapa, Beatriz Santos; Jorge, Joana; Alves, Raquel; Carreira, Isabel Marques; Sarmento-Ribeiro, Ana Bela; Gonçalves, Ana Cristina. "Zinc Prevents DNA Damage in Normal Cells but Shows Genotoxic and Cytotoxic Effects in Acute Myeloid Leukemia Cells". International Journal of Molecular Sciences 23 5 (2022): 2567. http://dx.doi.org/10.3390/ijms23052567. 10.3390/ijms23052567 Ribeiro, Ilda Patrícia; Lopes, Teresa; Pedro, Nicole; Barroso, Leonor; Costa, Rui; Carreira, Isabel Marques; Ribeiro, Fernando. "Should sitting time be a treatment target in head and neck cancer patients receiving curative treatment?". Oral Oncology 124 (2022): 105418. http://dx.doi.org/10.1016/j.oraloncology.2021.105418. 10.1016/j.oraloncology.2021.105418 Tavares, Inês; Martins, Ricardo; Ribeiro, Ilda Patrícia; Esteves, Luísa; Caramelo, Francisco; Abrantes, Ana Margarida; Neves, Rita; et al. "Development of a genomic predictive model for cholangiocarcinoma using copy number alteration data". Journal of Clinical Pathology 75 4 (2022): 274-278. http://dx.doi.org/10.1136/jclinpath-2020-207346. 10.1136/jclinpath-2020-207346 Paneque, M.; Serra Juhé, C.; Melegh, B.; Carreira, I.; Moog, U.; Liehr, T.. "Erratum: The need for recognition of core professional groups in genetics healthcare services in Europe (Medizinische Genetik (2022) 34 (81-83), DOI: 10.1515/medgen-2022-2116),Erratum zu: über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa (Medizinische Genetik (2022) 34 (81-83) DOI: 10.1515/medgen-2022-2116)". Medizinische Genetik 34 2 (2022): 189-191. http://www.scopus.com/inward/record.url?eid=2-s2.0-85137901141&partnerID=MN8TOARS. 10.1515/medgen-2022-2122 Paneque, M.; Serra Juhé, C.; Melegh, B.; Carreira, I.; Moog, U.; Liehr, T.. "Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa". Medizinische Genetik 34 1 (2022): 81-83. http://www.scopus.com/inward/record.url?eid=2-s2.0-85130614071&partnerID=MN8TOARS. 10.1515/medgen-2022-2116 Ilda Patrícia Ribeiro; Luísa Esteves; Ana Santos; Leonor Barroso; Francisco Marques; Francisco Caramelo; Joana Barbosa Melo; Isabel Marques Carreira. "A seven-gene signature to predict the prognosis of oral squamous cell carcinoma". Oncogene (2021): https://doi.org/10.1038/s41388-021-01806-5. 10.1038/s41388-021-01806-5 Couto Oliveira, Alexandra; Ribeiro, Ilda Patrícia; Pires, Luís Miguel; Gonçalves, Ana Cristina; Paiva, Artur; Geraldes, Catarina; Roque, Adriana; et al. "Genomic characterisation of multiple myeloma: study of a Portuguese cohort". Journal of Clinical Pathology 75 6 (2021): 422-425. http://dx.doi.org/10.1136/jclinpath-2020-207204. 10.1136/jclinpath-2020-207204 Lains, Ines; Zhu, Shujian; Han, Xikun; Chung, Wonil; Yuan, Qianyu; Kelly, Rachel S.; Gil, Joao Q.; et al. "Genomic-Metabolomic Associations Support the Role of LIPC and Glycerophospholipids in Age-Related Macular Degeneration". Ophthalmology Science 1 1 (2021): 100017. http://dx.doi.org/10.1016/j.xops.2021.100017. 10.1016/j.xops.2021.100017 "Liquid Biopsies: Applications for Cancer Diagnosis and Monitoring". Genes 12 3 (2021): 349-349. http://dx.doi.org/10.3390/genes12030349. 10.3390/genes12030349 Cardoso, J.C.; Ribeiro, I.P.; Caramelo, F.; Tellechea, O.; Barbosa De Melo, J.; Marques Carreira, I.. "Multiple Basal Cell Carcinomas of the Scalp after Radiotherapy: Genomic Study in a Case with Latency Period over 80 Years". American Journal of Dermatopathology 43 6 (2021): 438-442. http://www.scopus.com/inward/record.url?eid=2-s2.0-85106666652&partnerID=MN8TOARS. 10.1097/DAD.0000000000001801 Cardoso, José Carlos; Ribeiro, Ilda Patrícia; Caramelo, Francisco; Tellechea, Oscar; de Melo, Joana Barbosa; Carreira, Isabel Marques. "Basal cell carcinomas of the scalp after radiotherapy for tinea capitis in childhood: a genetic and epigenetic study with comparison with basal cell carcinomas evolving in chronically sun-exposed areas". Experimental Dermatology (2020): http://dx.doi.org/10.1111/exd.14237. Publicado • 10.1111/exd.14237 Carreira, Isabel; Eunice matoso; Susana Isabel FERREIRA; Ana Raquel NEVES; Ana Sofia PAIS; Maria João CARVALHO; Alexandra ESTEVINHO; et al. "Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency". Acta Med Port 33 13 (2020): 1-7. https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490. Publicado • 10.20344/amp.13490 Franková, Vera; Driscoll, Riona O.; Jansen, Marleen E.; Loeber, J. Gerard; Kožich, Viktor; Bonham, James; Borde, Patricia; et al. "Regulatory landscape of providing information on newborn screening to parents across Europe". European Journal of Human Genetics 29 1 (2020): 67-78. http://dx.doi.org/10.1038/s41431-020-00716-6. 10.1038/s41431-020-00716-6 Jordan-Yu, Janice Marie; Teo, Kelvin; Fan, Qiao; Gana, Jose Carlos; Leopando, Anna Karina; Nunes, Sandrina; Farinha, Cláudia; et al. "Phenotypic and genetic variations between Asian and Caucasian polypoidal choroidal vasculopathy". British Journal of Ophthalmology (2020): bjophthalmol-2020. http://dx.doi.org/10.1136/bjophthalmol-2020-317537. 10.1136/bjophthalmol-2020-317537 Wafa, Abdulsamad; Jarjour, Rami A.; Alolabi, Doaa; Liehr, Thomas; Hamdan, Othman; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.; Al-Achkar, Walid. 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Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 670 1-2 (2009): 42-52. http://www.scopus.com/inward/record.url?eid=2-s2.0-70350003590&partnerID=MN8TOARS. 10.1016/j.mrfmmm.2009.07.004 Duarte, Iola F.; Marques, Joana; Ladeirinha, Ana F.; Rocha, Cláudia; Lamego, Inês; Calheiros, Rita; Silva, Tânia M.; et al. "Analytical Approaches toward Successful Human Cell Metabolome Studies by NMR Spectroscopy". (2009): http://hdl.handle.net/10316/10540. Santos, Susana; Cavaco, Diogo; Adragao, Pedro; Sa, Isabel; Carreira, Isabel; Antunes, Manuel; Cardim, Nuno; Monteiro, Carolino. "Familial mutation screening and gene expression evaluation in hypertrophic cardiomyopathy profiling". (2009): http://hdl.handle.net/10451/21030. Engenheiro, E.; Møller, R.S.; Pinto, M.; Soares, G.; Nikanorova, M.; Carreira, I.M.; Ullmann, R.; Tommerup, N.; Tümer, Z.. "Mowat - Wilson syndrome: An underdiagnosed syndrome?". Clinical Genetics 73 6 (2008): 579-584. http://www.scopus.com/inward/record.url?eid=2-s2.0-43449100930&partnerID=MN8TOARS. 10.1111/j.1399-0004.2008.00997.x Mascarenhas, A.; Matoso, E.; Saraiva, J.; Tönnies, H.; Gerlach, A.; Julião, M.J.; Melo, J.B.; Carreira, I.M.. "First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q". Cytogenetic and Genome Research 121 3-4 (2008): 293-297. http://www.scopus.com/inward/record.url?eid=2-s2.0-50849122046&partnerID=MN8TOARS. 10.1159/000138901 Graça, G.; Duarte, I.F.; Goodfellow, B.J.; Carreira, I.M.; Couceiro, A.B.; Domingues, M.D.R.; Spraul, M.; Tseng, L.-H.; Gil, A.M.. "Metabolite profiling of human amniotic fluid by hyphenated nuclear magnetic resonance spectroscopy". Analytical Chemistry 80 15 (2008): 6085-6092. http://www.scopus.com/inward/record.url?eid=2-s2.0-49449087332&partnerID=MN8TOARS. 10.1021/ac800907f Sousa, S.B.; Pina, R.; Ramos, L.; Pereira, N.; Krahn, M.; Borozdin, W.; Kohlhase, J.; et al. "Tetra-amelia and lung hypo/aplasia syndrome: New case report and review". American Journal of Medical Genetics, Part A 146 21 (2008): 2799-2803. http://www.scopus.com/inward/record.url?eid=2-s2.0-55849123034&partnerID=MN8TOARS. 10.1002/ajmg.a.32489 Graça, Gonçalo; Duarte, Iola F.; Goodfellow, Brian J.; Carreira, Isabel M.; Couceiro, Ana Bela; Domingues, Maria do Rosário; Spraul, Manfred; Tseng, Li-Hong; Gil, Ana M.. "Metabolite Profiling of Human Amniotic Fluid by Hyphenated Nuclear Magnetic Resonance Spectroscopy". (2008): http://hdl.handle.net/10316/10562. Sousa, Sérgio B.; Pina, Raquel; Ramos, Lina; Pereira, Naigel; Krahn, Martin; Borozdin, Wiktor; Kohlhase, Jürgen; et al. "Tetra-amelia and lung hypo/aplasia syndrome: New case report and review". (2008): http://hdl.handle.net/10316/8440. Engenheiro, E.; Saraiva, J.; Carreira, I.; Ramos, L.; Ropers, H.H.; Silva, E.; Tommerup, N.; Tümer, Z.. "Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome". Clinical Genetics 72 5 (2007): 464-470. http://www.scopus.com/inward/record.url?eid=2-s2.0-35348879214&partnerID=MN8TOARS. 10.1111/j.1399-0004.2007.00879.x Carreira, I.M.; Mascarenhas, A.; Matoso, E.; Couceiro, A.B.; Ramos, L.; Dufke, A.; Mazauric, M.; et al. "Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18". Journal of Histochemistry and Cytochemistry 55 11 (2007): 1123-1128. http://www.scopus.com/inward/record.url?eid=2-s2.0-35549002130&partnerID=MN8TOARS. 10.1369/jhc.7A7244.2007 Jardim, A.; Melo, J.B.; Matoso, E.; Pires, L.M.; Ramos, L.; Carreira, I.M.. "Two new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis [1]". Prenatal Diagnosis 27 4 (2007): 380-381. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247171671&partnerID=MN8TOARS. 10.1002/pd.1650 Graça, G.; Duarte, I.F.; Goodfellow, B.J.; Barros, A.S.; Carreira, I.M.; Couceiro, A.B.; Spraul, M.; Gil, A.M.. "Potential of NMR spectroscopy for the study of human amniotic fluid". Analytical Chemistry 79 21 (2007): 8367-8375. http://www.scopus.com/inward/record.url?eid=2-s2.0-35848947962&partnerID=MN8TOARS. 10.1021/ac071278d Assereto, S.; van Diggelen, O.P.; Diogo, L.; Morava, E.; Cassandrini, D.; Carreira, I.; de Boode, W.-P.; et al. "Null mutations and lethal congenital form of glycogen storage disease type IV". Biochemical and Biophysical Research Communications 361 2 (2007): 445-450. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547515164&partnerID=MN8TOARS. 10.1016/j.bbrc.2007.07.074 Qiao, Q.; Toumilehto, J.; Jousilahti, P.; Lindström, J.; Bouter, L.M.; Dekker, J.M.; Heine, R.J.; et al. "Comparison of three different definitions for the metabolic syndrome in non-diabetic Europeans". British Journal of Diabetes and Vascular Disease 5 3 (2005): 161-168. http://www.scopus.com/inward/record.url?eid=2-s2.0-21644437694&partnerID=MN8TOARS. Grazina, M.; Silva, F.; Santana, I.; Pratas, J.; Santiago, B.; Oliveira, M.; Carreira, I.; Cunha, L.; Oliveira, C.. "Mitochondrial DNA variants in a Portuguese population of patients with Alzheimer's disease". European Neurology 53 3 (2005): 121-124. http://www.scopus.com/inward/record.url?eid=2-s2.0-20844462230&partnerID=MN8TOARS. 10.1159/000085555 Oliveira, G.; Matoso, E.; Vicente, A.; Ribeiro, P.; Marques, C.; Ataíde, A.; Miguel, T.; Saraiva, J.; Carreira, I.. "Partial tetrasomy of chromosome 3q and mosaicism in a child with autism". Journal of Autism and Developmental Disorders 33 2 (2003): 177-185. http://www.scopus.com/inward/record.url?eid=2-s2.0-0345382559&partnerID=MN8TOARS. 10.1023/A:1022943627660 Oliveira, Guiomar; Matoso, Eunice; Vicente, Astrid; Ribeiro, Patricia; Marques, Carla; Ataíde, Assunção; Miguel, Teresa; Saraiva, Jorge; Carreira, Isabel. "Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with Autism". (2003): http://hdl.handle.net/10316/8492. Saraiva, J.M.; Pinto, M.R.; Monteiro, C.; Marques, I.; Lima, M.R.; Medeira, A.; Rendeiro, P.. "Portugal: The practice of medical genetics in Portugal". Genetics in Medicine 3 3 (2001): 220-221. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035746337&partnerID=MN8TOARS. Saraiva, J.M.; Anionwu, E.; Belo, M.; Jenkins, T.; Kristoffersson, U.; Marques, I.; Santos, H.G.; et al. "Issues in human GenEthics". Genetics in Medicine 3 3 (2001): 218-219. http://www.scopus.com/inward/record.url?eid=2-s2.0-18544387785&partnerID=MN8TOARS. 10.1097/00125817-200105000-00013 Dean, J.C.S.; De Silva, D.C.; Reardon, W.; Di Rocco, M.; Buocompagni, A.; Picco, P.; Vignola, S.; et al. "Craniosynostosis and chromosome 22q11 deletion (multiple letters) [1]". Journal of Medical Genetics 35 4 (1998): 346-348. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031957670&partnerID=MN8TOARS. Jordan, M.A.; Marques, I.; Rosendorff, J.; De Ravel, T.J.L.. "Trisomy 8 mosaicism: A further five cases illustrating marked clinical and cytogenetic variability". Genetic Counseling 9 2 (1998): 139-146. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031749674&partnerID=MN8TOARS. Saraiva, J.M.; Matoso, E.; Marques, I.. "Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.". Journal of medical genetics 35 4 (1998): 347-348. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032044688&partnerID=MN8TOARS. Gibson, R.A.; Morgan, N.V.; Goldstein, L.H.; Pearson, I.C.; Kesterton, I.P.; Foot, N.J.; Jansen, S.; et al. "Novel mutations and polymorphisms in the Fanconi anemia group C gene". Human Mutation 8 2 (1996): 140-148. http://www.scopus.com/inward/record.url?eid=2-s2.0-15844403607&partnerID=MN8TOARS. 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F
Capítulo de livro	Sarmento Ribeiro, A.B.; Botelho, M.F.; Gonçalves, A.C.; Melo, J.B.; Laranjo, M.; Alves, R.; Jorge, J.; et al. "Aging-related neoplasia". 547-575. 2022.
Livro	Isabel Marques Carreira; Ilda Patrícia Ribeiro; Joana Barbosa de Melo. Cancro da Cabeça e Pescoço: Aspectos Particulares do Cancro Oral. 2021. 10.14195/978-989-26-1858-6 Ribeiro, I.P.; Carreira, I.M.. Drosophila melanogaster: A valuable ally to understand human malignancies. 2014. Graça, G.; Diaz, S.O.; Pinto, J.; Barros, A.S.; Duarte, I.F.; Goodfellow, B.J.; Galhano, E.; et al. Can biofluids metabolic profiling help to improve healthcare during pregnancy?. 2013. 10.3233/978-1-61499-184-7-091 Botelho, M.F.; Santos, A.C.; Lopes, M.C.; Pinto, M.; Carreira, I.; Aleixo, I.; Rolo, I.; et al. Effects of radiation in cellular cultures. 2008.
Poster em conferência	Voronovska, Anastasiya; Barroso, Leonor; Inês Tavares; Luís Miguel Pires; Joana Barbosa Melo; Carreira, Isabel; Ilda Patrícia Ribeiro. "Biópsias Líquidas: Revolução no Diagnóstico e Prognóstico do Cancro Oral - Estudo Preliminar". Trabalho apresentado em 3rd National Meeting of Young Oncology Researchers, 2021. Val, Mariana Monteiro; Mendes, Luís; Chanson, M; Carreira, Isabel; Carvalho, Lina; Ladeirinha, AF; Rodrigues, Carlos Fernando D.; Alpoim, Maria Carmen Martins de Carvalho. "Contribution of an altered microenvironment to epithelial cells' transformation". Trabalho apresentado em 27ª Reunião de Atualizações em Oncologia / 2º Congresso do CIMAGO, Coimbra, Portugal, 2013. Val, Mariana Monteiro; Mendes, Luís; Chanson, M; Carreira, Isabel; Carvalho, Lina; Ladeirinha, AF; Rodrigues, Carlos Fernando D.; Alpoim, Maria Carmen Martins de Carvalho. "Acquisition of premalignant features by bronchial epithelial cells promoted by bronchial senescent fibroblasts: the dark side of senescence". Trabalho apresentado em X CNC Annual Meeting, Coimbra, Portugal, 2012. Val, Mariana Monteiro; Mendes, Luís; Chanson, M; Carreira, Isabel; Carvalho, Lina; Ladeirinha, AF; Rodrigues, Carlos Fernando D.; Alpoim, Maria Carmen Martins de Carvalho; Mendes, Luís André. "Senescent bronchial fibroblasts drive bronchial epithelial cells metaplastic transformation following exposure to hexavalent chromium". Trabalho apresentado em One Day Symposium, sponsored by EARC, Porto, Portugal, 2012. Mendes, Luís André; Rodrigues, Carlos Fernando D.; Chanson, M; Carreira, Isabel; Alpoim, Maria Carmen Martins de Carvalho. "Cr(VI)-induced senescence-associated secretory phenotype in normal human bronchial fibroblasts". Trabalho apresentado em 36th FEBS Congress, Biochemistry for Tomorrow's Medicine, Torino, Italy, 2011.
Resumo em conferência	Oliveira, Guiomar; Almeida, Joana; Lontro, Raquel; Café, Cátia; Mouga, Susana; Lobo, Cristina; São Miguel, Teresa; et al. "Etiologic investigation of 654 patients with Autism Spectrum Disorder (ASD): the experience at Hospital Pediátrico de Coimbra in Portugal". Trabalho apresentado em International Meeting for Autism Research 2008, London, 2008. Publicado
Tese / Dissertação	Oliveira, Alexandra Maria de Jesus Couto. "Genomic Characterization of Monoclonal Gammopathies Patients". Mestrado, 2018. http://hdl.handle.net/10316/86269. Oliveira, Alexandra Maria de Jesus Couto. "Genomic Characterization of Monoclonal Gammopathies Patients". Mestrado, 2018. http://hdl.handle.net/10316/86269. Adão, Diana Cristina Antunes Candeias. "Characterization of Chronic Lymphocytic Leukemia by aCGH/MLPA". Mestrado, 2018. http://hdl.handle.net/10451/35554. Domingues, Laura Maria Silvério. "Caracterização genómica e epigenética de biópsias de carcinoma basocelular". Mestrado, 2018. http://hdl.handle.net/10451/36752. Oliveira, Alexandra Maria de Jesus Couto. "Genomic Characterization of Monoclonal Gammopathies Patients". Mestrado, 2018. http://hdl.handle.net/10316/86269. Laíns, Inês Maria de Carvalho. "Metabolomics, Genetics and Environment: a Novel Integrative Approach to Age-related Macular Degeneration". Doutoramento, 2018. http://hdl.handle.net/10316/92898. Ribeiro, Ilda Patrícia Tavares da Silva. "Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applications". Doutoramento, 2017. http://hdl.handle.net/10316/79613. Tavares, Inês Moura. "Perfil genético em colangiocarcinoma.". Mestrado, 2017. http://hdl.handle.net/10316/83139. Ribeiro, Maria Margarida Sá. "Cytogenomic characterization and DNA methylation patterns of laryngeal cancer". Mestrado, 2017. http://hdl.handle.net/10316/81422. Ribeiro, Ilda Patrícia Tavares da Silva. "Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applications". Doutoramento, 2017. http://hdl.handle.net/10316/79613. Tavares, Inês Moura. "Perfil genético em colangiocarcinoma.". Mestrado, 2017. http://hdl.handle.net/10316/83139. Tavares, Inês Moura. "Perfil genético em colangiocarcinoma.". Mestrado, 2017. http://hdl.handle.net/10316/83139. Ribeiro, Ilda Patrícia Tavares da Silva. "Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applications". Doutoramento, 2017. http://hdl.handle.net/10316/79613. Ribeiro, Maria Margarida Sá. "Cytogenomic characterization and DNA methylation patterns of laryngeal cancer". Mestrado, 2017. http://hdl.handle.net/10316/81422. Pedro, Nicole Sónia Neto. "Cachexia in patients with head and neck cancer undergoing radiotherapy or concurrent chemoradiotherapy : characterization, molecular mechanisms and relationships". Mestrado, 2016. http://hdl.handle.net/10316/40773. Oliveira, Andreia Camila Monteiro. "Development of a non-invasive approach for oral squamous cell carcinoma diagnosis". Mestrado, 2016. http://hdl.handle.net/1822/45413. Tomás, Mariana Santos Vidal. "Copy number variation analysis in retinal angiomatous proliferation". Mestrado, 2016. http://hdl.handle.net/10316/34046. Rodrigues, Joana de Matos. "From genes to radioresistance in head and neck squamous cell carcinoma". Mestrado, 2015. http://hdl.handle.net/10773/16133. Matoso, Eunice Maria Ruas de Campos. "Desequilíbrios genómicos nas patologias do desenvolvimento e do comportamento". Doutoramento, 2015. http://hdl.handle.net/10316/26669. Lisboa, Sofia Matos. "Characterization of the genetic and epigenetic profile of tongue squamous cell carcinoma". Mestrado, 2015. http://hdl.handle.net/10316/31683. Marques, Vanessa Alexandra Freire. "Genetic and epigenetic characterization of laryngeal carcinoma". Mestrado, 2015. http://hdl.handle.net/10773/15016. Costa, Claúdia Sofia Fernandes da. "Prenatal diagnosis : state of the art". Mestrado, 2014. http://hdl.handle.net/10316/31919. Gonçalves, João Carlos Martins. "Otimização da técnica de array CGH em diagnóstico pré-natal". Mestrado, 2014. http://hdl.handle.net/10316/31569. Mendes, Ana Karina da Silva. "O MLPA (Multiplex Ligation-dependent Probe Amplification) e o aCGH (array Comparative Genomic Hybridization) no diagnóstico de alterações cromossómicas". Mestrado, 2014. http://hdl.handle.net/10348/2938. Barreto, Mariana Carvalho. "Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipo". Mestrado, 2014. http://hdl.handle.net/10316/29250. Gomes, Hélder Manuel Lopes. "aCGH no diagnóstico pré-natal de fetos com anomalias ecográficas". Mestrado, 2013. http://hdl.handle.net/10773/12632. Portovedo, Sérgio Filipe Jesus. "Caracterização do perfil genómico do carcinoma pulmonar". Mestrado, 2013. http://hdl.handle.net/10316/37847. Silva, Liliana Sofia Oliveira. "Relatório de estágio : mestrado em análises clínicas". Mestrado, 2013. http://hdl.handle.net/10316/35727. Neves, Cátia José Domingues das. "Implementação do diagnóstico de dissomia uniparental para os cromossomas humanos 7, 11, 13, 14, 15, 21 e 22 no Laboratório de Citogenética e Genómica da Faculdade de Medicina da Universidade de Coimbra". Mestrado, 2013. http://hdl.handle.net/10348/6653. Domingues, Ana Beatriz Cainço. "Análise do padrão de metilação do carcinoma pavimento-celular da cavidade oral". Mestrado, 2013. http://hdl.handle.net/10316/24690. Santos, João Filipe Delgado dos. "Caracterização do perfil genómico do Cancro da Bexiga - Contribuição para o desenvolvimento de uma metodologia de diagnóstico e monitorização molecular". Mestrado, 2013. http://hdl.handle.net/10316/24897. Vitorino, Ana Sofia Pereira Costa Silva. "Perfil genómico e caracterização clínica de crianças com sindrome X-frágil". Mestrado, 2013. http://hdl.handle.net/10316/36425. Machado, Andrea Suzana Teixeira Lopes. "Clinical characterization and genetic analysis in women with premature ovarian insuficciency". Mestrado, 2013. http://hdl.handle.net/10316/79808. Pinto, Marta Coelho. "Diagnóstico pré-natal citogenético: o impacto das novas tecnologias". Mestrado, 2012. http://hdl.handle.net/10773/9750. Estrela, Filipe João Santos. "Caracterização citogénica e genómica de pacientes com MAC (microftalmia, anoftalmia e coloboma)". Mestrado, 2012. http://hdl.handle.net/10316/47988. Guarino, Patrícia Isabel Silva. "Avaliação de alterações genéticas e epigenéticas envolvidas na susceptibilidade a cancro na síndrome de Down". Mestrado, 2012. http://hdl.handle.net/10316/26044. Pais, Claudia Sofia Augusto. "Estudo citogenético e molecular em indivíduos com défice cognitivo : impacto na área médico-legal". Mestrado, 2012. http://hdl.handle.net/10316/31615. Ladeirinha, Ana Filipa Ferreira. "Establishment of primary cell cultures from lung tissue biopsies and study of the cellular metabolic responses to cisplatin and radiation exposure". Mestrado, 2011. http://hdl.handle.net/10316/25819. Peixoto, Sara Cecília Carneiro. "Relação genótipo-fenótipo em indivíduos com autismo". Mestrado, 2011. http://hdl.handle.net/10316/30408. Brás, Marta Isabel Tomás. "A importância de rearranjos subteloméricos no atraso mental". Mestrado, 2011. http://hdl.handle.net/10316/81375. Afonso, Tânia Sofia da Trindade. "Estudo da etiologia do autismo utilizando a técnica de MLPA". Mestrado, 2011. http://hdl.handle.net/10316/18844. Oliveira, Rui Pedro Caetano Moreira de. "Efeitos da radiação ionizante em culturas celulares de amniócitos humanos". Mestrado, 2011. http://hdl.handle.net/10316/80807. Oliveira, Micaela Ferreira de. "Estudo de genética molecular de cardiomiopatia hipertrófica". Mestrado, 2011. http://hdl.handle.net/10316/81226. Melo, Maria Joana Lima Barbosa de. "Cytogenetic characterization of small supernumerary marker chromosomes : towards a genotype-phenotype correlation". Doutoramento, 2010. http://hdl.handle.net/10316/17700. Gameiro, Pedro Centeio Ferraz. "Microdeletion 22QII.2 : a reason to feel blue?". Mestrado, 2010. http://hdl.handle.net/10316/83610. Ferreira, Susana Isabel Canas. "Estudo das formas alélicas do gene FMR1 no síndrome do X-Frágil e na menopausa precoce". Mestrado, 2009. http://catalogo.ul.pt/F/?func=item-global&doc_library=ULB01&type=03&doc_number=000576977. Almeida, Sónia Margarida Tavares Matos. "Estudo da etiologia do Autismo utilizando as técnicas de FISH e MLPA". Mestrado, 2009. http://hdl.handle.net/10316/28676.

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2023 - Atual	A prática da Genética Molecular em contexto de diagnóstico Orientador
2023 - Atual	LABORATORY INTERNSHIP IN CYTOGENOMICS Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2023 - Atual	Molecular Diagnosis in Hemato-Oncology Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Atual	Do biomarkers in rectal cancer predict tumor regression grade after neoadjuvant radiotherapy? Coorientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Atual	Cytogenetics and Cytogenomics Approaches in Pre-Natal and Post-Natal Diagnosis Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Atual	GENETIC STUDIES IN ONCOLOGY: A CLINICAL LABORATORIAL APPROACH Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
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2022 - Atual	Cytogenetics and Molecular Biology thecniques in prenatal diagnosis in the context of ecographic malformations and ecographic alert signs Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Atual	Internship in Laboratorial Clinical Genetics Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal Istituto Giannina Gaslini, Itália
2022 - Atual	Internship Report at the Giannina Gaslini Institute Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal Istituto Giannina Gaslini, Itália
2021 - Atual	Glioblastoma Multiforme: Dynamic Changes Characterization in Circulating Tumor DNA During Chemo-Radiotherapy Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2021 - Atual	Non invasive prenatal test - Next Generation Sequencing Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2019 - Atual	Basal cell carcinomas of the scalp post-radiotherapy for tinea capitis in childhood: clinicopathologic and genetic study. Coorientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2019 - Atual	Oral cancer: genomic profile and circulating tumor DNA in diagnosis and follow-up Orientador	Universidade de Coimbra Faculdade de Medicina, Portugal
2018 - 2018	Genomic Characterization of Monoclonal Gammopathies Patients Orientador	Biologia Celular e Molecular (Mestrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2017 - 2017	Cytogenomic characterization and DNA methylation patterns of laryngeal cancer Coorientador	Investigação Biomédica (Mestrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2017 - 2017	Perfil genético em colangiocarcinoma. Orientador	Bioquímica (Mestrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2015 - 2015	Characterization of the Genetic and Epigenetic Profile of Tongue Squamous Cell Carcinoma Orientador	Bioquímica (Mestrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2014 - 2014	Otimização da técnica de array CGH em diagnóstico pré-natal Coorientador	Investigação Biomédica (Mestrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2014 - 2014	Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipo Orientador	Medicina (Mestrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2014 - 2014	Carcinoma epidermóide da cabeça e pescoço: integração de dados genómicos, epigenéticos e transcriptómicos - da bancada às aplicações clínicas Orientador	Envelhecimento e Doenças Crónicas (associação) (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
2013 - 2013	Análise do padrão de metilação do carcinoma pavimento-celular da cavidade oral Orientador	Bioquímica (Mestrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2002 - 2002	Cytogenetic Characterization of Small Supernumerary Marker Chromosomes - Towards a Genotype/Phenotype Correlation Orientador	Ciências Biomédicas (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal

Organização de evento

	Nome do evento Tipo de evento (Tipo de participação)	Instituição / Organização
2019/11/14 - 2019/11/16	Organization of the 23rd Scientific Meeting of The SPGH (Sociedade Portuguesa de Genética Humana) (2019/11/14 - 2019/11/16) Congresso (Presidente da Comissão Organizadora)	Sociedade Portuguesa de Genética Humana (SPGH, Portugal

Júri de grau académico

	Tema Tipo de participação	Nome do candidato (Tipo de grau) Instituição / Organização
2024	Diagnóstic Techiniques in a Laboratory of Cytogenetics and Genomics and a Laboratory of Oncobiology and Hematology Orientador	Edinalva Teresa Samanda Paulo Graciano (Mestrado)
2023	Targeting the heart: Extracellular vesicles and beyond Arguente	Andreia Pinheiro Vilaça (Doutoramento)
2023	Pharmacoresistant epilepsy focal: histopathological and molecular approach Presidente do júri	Joana Jesus Ribeiro (Doutoramento)
2023	Insights into molecular cytogenetic routine diagnostics and characterization of repeated showing up constitutive chromosomal translocations Presidente do júri	Ana Luísa Teixeira Fontes (Mestrado)
2023	Search for alterations in genes involved in DNA repair by homologous recombination, excluding BRCA1 and BRCA2, associated with hereditary cancer Presidente do júri	Daniela Alexandra Ramos Arnaut (Mestrado)
2023	Genetic Analysis of Patients with Frontotemporal Dementia and Generation of induced Pluripotent Stem Cells and Brain Organoids Presidente do júri	Mafalda Teixeira Vaz das Neves (Mestrado)
2023	IDENTIFICATION OF PROGNOSIS BIOMARKERS IN ONCOLOGY THROUGH GENOMIC AND EPIGENETIC CHARACTERIZATION Presidente do júri	Miriam Gabriela Bezerra Salaviza (Mestrado)
2023	MOLECULAR DIAGNOSIS OF NEUROFIBROMATOSIS TYPE I AND OTHER RASOPATHIES Presidente do júri	Carolina Pereira Teixeira (Mestrado)
2023	Cytogenetics and Genomics analysis in prenatal and postnatal diagnosis Presidente do júri	Inês Catarina Freitas Costa (Mestrado)
2022	Glioblastoma: Genomic and Epigenomic Characterization and Biomarker Identification Presidente do júri	Gui Miguel Andrade da Rosa (Mestrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2022	Tribological study of metal alloys subject to dental wear Presidente do júri	Sónia Isabel Gonçalves Fangaia (Doutoramento) Universidade de Coimbra Faculdade de Medicina, Portugal
2022	Internship report conducted at The Royal Brompton Hospital, UK Presidente do júri	Cátia Sofia Novais Brandão (Mestrado)
2022	Internship report conducted at The Royal Brompton Hospital, UK Presidente do júri	Cátia Sofia Novais Brandão (Mestrado)
2022	Cytogenetic and molecular evaluation in the context of intellectual disability, autism spectrum disorder and congenital anomalies Presidente do júri	Pedro Miguel Vaz Veiga (Mestrado)
2022	Genetic and Epigenetic causes underlying recurrent pregnancy loss Presidente do júri	Diane Estanheiro Vaz (Mestrado)
2022	Assessment of the Contribution of Genetic Factors in Acute Diverticulitis Presidente do júri	Fabiana Félix Santos Ornelas (Mestrado)
2022	Assessment of the Contribution of Genetic Factors in Acute Diverticulitis Presidente do júri	Fabiana Félix Santos Ornelas (Mestrado)
2022	Glioblastoma: Genomic and Epigenomic Characterization and Biomarker Identification Presidente do júri	Gui Miguel Andrade da Rosa (Mestrado)
2022	Validation and implementation of the Precision ID GlobalFiler NGS STR v2 panel in forensic samples Presidente do júri	Inês Ferreira Castelo Branco Catré (Mestrado)
2022	Role of elastin in cartilage calcification caused by MGP deficiency: Contribution to the study of Keutel Syndrome. Presidente do júri	Rita Carolina Rodrigues Abreu (Mestrado)
2022	Role of elastin in cartilage calcification caused by MGP deficiency: Contribution to the study of Keutel Syndrome. Presidente do júri	Rita Carolina Rodrigues Abreu (Mestrado)
2021	Functional and Structural Characterization of the Response to the Treatment of Diabetic Macular Edema with Intravitreal Anti-VEGF Therapy Presidente do júri	Ana Rita Branco Marques dos Santos (Doutoramento)
2020	Sensitivity and Resistance in Chronic Myeloid Leukaemia to Tyrosine Kinase Inhibitors: insights into molecular mechanisms; Arguente	Raquel Fernanda da Silva Alves (Doutoramento)

Curso / Disciplina lecionado

	Disciplina	Curso (Tipo)	Instituição / Organização
2020 - Atual	Citogenética e Genómica Laboratorial	Citogenética e Genómica Laboratorial (Mestrado integrado)	Universidade de Coimbra Faculdade de Medicina, Portugal
2023/12/11 - 2023/12/15	Molecular Mechanisms of Disease PhD Program in Health Sciences.	mecanismos moleculares	Universidade de Coimbra Faculdade de Medicina, Portugal
2023/09/04 - 2023/09/08	Sixth European Course on Basics in Human Genetic Diagnostics - A course for CLGs* in education *Clinical Laboratory Geneticists 04th - 8th September 2023	various lectures (Curso de Especialização Tecnológica)	European Society of Human Genetics, Áustria CIMAGO - Centro de Investigação Meio Ambiente Genética e Oncobiologia, Portugal
2023/03/06 - 2023/03/10	From Genotype to Phenotype	genótipo ao fenótipo (Curso de mestrado (conclusão do curso de especialização))	Universidade de Coimbra Faculdade de Medicina, Portugal
2022/10/24 - 2022/10/28	Molecular Mechanisms of Disease PhD Program in Health Sciences.	mecanismos moleculares (Curso de doutoramento (conclusão de unidades curriculares))	Universidade de Coimbra Faculdade de Medicina, Portugal
2022/09/05 - 2022/09/09	Fifth European Course on Basics in Human Genetic Diagnostics - A course for CLGs* in education *Clinical Laboratory Geneticists 05th - 9th September 2022		European Society of Human Genetics, Áustria CIMAGO - Centro de Investigação Meio Ambiente Genética e Oncobiologia, Portugal
2022/03/07 - 2022/03/11	From Genotype to Phenotype. PhD Program in Health Sciences.	From Genotype to Phenotype (Curso de mestrado (conclusão do curso de especialização))	Universidade de Coimbra Faculdade de Medicina, Portugal
2022/01/31 - 2022/02/04	Curso teórico-prático em Citogenética e Genómica no diagnóstico e investigação 4ª Edição	(Curso de Especialização Tecnológica)	Universidade de Coimbra Faculdade de Medicina, Portugal CIMAGO - Centro de Investigação Meio Ambiente Genética e Oncobiologia, Portugal
2021/11/08 - 2021/11/12	Molecular Mechanisms of Disease PhD Program in Health Sciences.	mecanismos moleculares (Curso de doutoramento (conclusão de unidades curriculares))	Universidade de Coimbra Faculdade de Medicina, Portugal
2021/03/22 - 2021/03/26	From Genotype to Phenotype. PhD Program in Health Sciences.	From Genotype to Phenotype (Curso de mestrado (conclusão do curso de especialização))	Universidade de Coimbra Faculdade de Medicina, Portugal
2020/11/02 - 2020/11/06	Molecular Mechanisms of Disease PhD Program in Health Sciences.	(Curso de doutoramento (conclusão de unidades curriculares))	Universidade de Coimbra Faculdade de Medicina, Portugal
2020/03/23 - 2020/04/24	Human Genetics	Genética Humana (Mestrado integrado)	Universidade de Coimbra Faculdade de Medicina, Portugal
2020/03/02 - 2020/03/06	From Genotype to Phenotype. PhD Program in Health Sciences.	From Genotype to Phenotype. PhD Program in Health Sciences. (Curso de doutoramento (conclusão de unidades curriculares))	Universidade de Coimbra Faculdade de Medicina, Portugal
2020/02/10 - 2020/02/14	Curso teórico-prático em Citogenética e Genómica no diagnóstico e investigação – 3ª Edição	Curso teórico-prático em Citogenética e Genómica no diagnóstico e investigação (Outros)	Universidade de Coimbra Faculdade de Medicina, Portugal
2019/10/14 - 2019/10/18	Molecular Mechanisms of Disease PhD Program in Health Sciences.	Molecular Mechanisms of Disease PhD Program in Health Sciences. (Curso de doutoramento (conclusão de unidades curriculares))	Universidade de Coimbra Faculdade de Medicina, Portugal
2019/09/09 - 2019/09/13	Fourth European Course on Basics in Human Genetic Diagnostics - A course for CLGs* in education *Clinical Laboratory Geneticists 09th - 13th September 2019	Various lectures on Human genetics	Universidade de Coimbra Faculdade de Medicina, Portugal Instituto Investigação Clinica e Biomédica de Coimbra - CIMAGO, Portugal
2018/10/22 - 2018/10/26	Molecular Mechanisms of Disease PhD Program in Health Sciences.	Molecular Mechanisms of Disease PhD Program in Health Sciences. (Curso de doutoramento (conclusão de unidades curriculares))	Universidade de Coimbra Faculdade de Medicina, Portugal

Distinções

Prémio

2019	Best Oral Comunication
2018	best poster
2017	Prémio melhor comunicação oral
2017	Melhor poster
2017	Oral communication

Outra distinção

2019	2º Prémio na categoria de poster de trabalho experimental
2018	Best short communication
2018	Menção Honrosa na categoria de poster Clinical Research
2017	Menção Honrosa - comunicação oral
2017	ESHG National Fellowship
2016	Prémio melhor comunicação oral.
2016	Menção Honrosa, comunicação oral.
2015	Melhor comunicação oral.
2014	Prémio de Melhor Comunicação Oral
2014	Prémio de Melhor Póster.
2011	Best oral communication award
2010	Best poster communication award.
2003	Prémio melhor comunicação livre
2002	Prémio de estímulo à investigação -
2001	Prémio Melhor Comunicação Oral
1991	Young Professional of the Year