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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.
Identification

Personal identification

Full name
ISABEL MARIA MARQUES CARREIRA

Citation names

  • Carreira, Isabel

Author identifiers

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

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Education
Degree Classification
2010
Concluded
Biomedicina (Título de Agregado)
Universidade de Coimbra, Portugal
"n/a" (THESIS/DISSERTATION)
n/a
1993
Concluded
Doutoramento (Doutoramento)
Universidade de Coimbra Faculdade de Medicina, Portugal
1992
Concluded
Doutoramento em Genética Humana (Doutoramento)
University of the Witwatersrand, South Africa
"Variable Number of Tandem Repeat Polymorphisms of Man In Southern Africa" (THESIS/DISSERTATION)
Distinção
1992
Concluded
Biologia Celular e Biotecnologia (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
equivalência
1986
Concluded
Mestrado em Genética (Mestrado)
University of the Witwatersrand, South Africa
"Development of a method to detect small amounts of DNA in ultra-thin sections." (THESIS/DISSERTATION)
Distinction
1980
Concluded
BSc Honours (Licenciatura)
University of the Witwatersrand, South Africa
upper second
Affiliation

Science

Category
Host institution
Employer
2017 - Current Researcher (Research) Universidade de Coimbra Faculdade de Medicina, Portugal
Instituto Investigação Clinica e Biomédica de Coimbra - CIMAGO, Portugal
2009 - Current Science and Technology Management Universidade de Coimbra Faculdade de Medicina, Portugal
CIMAGO - Centro de Investigação Meio Ambiente Genética e Oncobiologia, Portugal

Teaching in Higher Education

Category
Host institution
Employer
2019 - Current Full Professor (University Teacher) University of Coimbra - Faculty of Medicine, Portugal
Iniversity of Coimbra - Faculty of Medicine, Portugal
2012 - 2018 Associate Professor (University Teacher) Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Faculdade de Medicina, Portugal
1997 - 2012 Assistant Professor (University Teacher) Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Faculdade de Medicina, Portugal
1992 - 1997 Invited Assistant Professor (University Teacher) Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Faculdade de Medicina, Portugal

Positions / Appointments

Category
Host institution
Employer
2017/02 - Current Organic Unit Sub-director Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Faculdade de Medicina, Portugal
1992 - Current Manager of Laboratory, Institute, Museum, Centre or Observatory Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Faculdade de Medicina, Portugal
Projects

Grant

Designation Funders
2018 - Current Caracterização Molecular de Colangiocarcinoma e Carcinoma Hepatocelular.
CIMAGO 10/18
Other
Universidade de Coimbra Faculdade de Medicina, Portugal
Liga Portuguesa Contra o Cancro Núcleo Regional do Centro
Ongoing
2020 - 2021 Avaliação Citogenómica de Tumores de Baixo Grau Associados a Epilepsia Refratária.
03/2020
Invited Scientist Fellow
Liga Portuguesa Contra o Cancro Núcleo Regional do Centro, Portugal
Liga Portuguesa Contra o Cancro Núcleo Regional do Centro
Ongoing
2019 - 2020 Cytogenomic Characterization of Monoclonal Gammopathy Patients.
CIMAGO 3/19
Master Student Fellow
Universidade de Coimbra Faculdade de Medicina, Portugal
Liga Portuguesa Contra o Cancro Núcleo Regional do Centro
Ongoing

Contract

Designation Funders
2021/01/01 - 2025/12/31 Center for Innovative Biomedicine and Biotechnology - Associate Laboratory
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
Ongoing
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
Concluded
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
Concluded
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
Concluded
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
Concluded
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
Concluded
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
Concluded
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
Concluded
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
Concluded
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
Concluded
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
Concluded

Other

Designation Funders
2021 - Current O Papel das Biópsias Líquidas no Diagnóstico e na Monitorização do Cancro Oral
LPCC/ACIMAGO
Researcher
Liga Portuguesa Contra o Cancro Núcleo Regional do Centro, Portugal
2018 - Current Proteomic profiling in the Head and Neck Squamous Cell Carcinoma to identify diagnosis and prognosis biomarkers
CIMAGO 5/18
Other
Universidade de Coimbra Faculdade de Medicina, Portugal
Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia
Ongoing
2018 - Current Caracterização Molecular de Colangiocarcinoma e Carcinoma Hepatocelular.
LPCC/ACIMAGO
Researcher
Liga Portuguesa Contra o Cancro Núcleo Regional do Centro, Portugal
Ongoing
2018 - Current Proteomic profiling in the Head and Neck Squamous Cell Carcinoma to identify diagnosis and prognosis biomarkers.
05/18
Principal investigator
Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia, Portugal
2016 - Current Head and Neck Squamous Cell Carcinoma: genomic and transcriptomic profiling in the pursuit of biomarkers
CIMAGO 9/14
Other
Universidade de Coimbra Faculdade de Medicina, Portugal
Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia
Ongoing
2014 - Current Etiologia genética das cardiopatias congénitas
PTDC/BEX-BID/0646/2014
Other
Hospital do Divino Espírito Santo de Ponta Delgada EPE, Portugal
Associação para a Inovação e Desenvolvimento da FCT
Concluded
2002 - Current 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
Other
Fundação Calouste Gulbenkian, Portugal
Fundação Calouste Gulbenkian
Concluded
2017 - 2019 Estudo de novos fatores de prognóstico genético em tumores vesicais.
1/17
Other
Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia
Ongoing
2015 - 2017 Caquexia em doentes com cancro da cabeça e pescoço submetidos a radioterapia ou quimioterapia: caracterização, associações e mecanismos moleculares.
ICarreira.GAI2015
Other
Universidade de Coimbra Faculdade de Medicina, Portugal
Universidade de Coimbra Faculdade de Medicina
Concluded
2012 - 2016 Avaliação do perfil genético do carcinoma epidermóide da cavidade oral pela técnica MLPA (Multiplex Ligation-dependent Probe Amplification)
CIMAGO 17/12
Other
Universidade de Coimbra Faculdade de Medicina, Portugal
Associação de Apoio ao Centro de Investigação em Meio Ambiente Genética e Oncobiologia
Concluded
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.
Other
Centro Hospitalar e Universitário de Coimbra EPE, Portugal
Concluded
Outputs

Publications

Book
  1. 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
  2. Ribeiro, I.P.; Carreira, I.M.. Drosophila melanogaster: A valuable ally to understand human malignancies. 2014.
  3. 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
  4. 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.
Book chapter
  1. 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.
Conference abstract
  1. 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". Paper presented in International Meeting for Autism Research 2008, London, 2008.
    Published
Conference paper
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
Conference poster
  1. 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". Paper presented in 3rd National Meeting of Young Oncology Researchers, 2021.
  2. 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". Paper presented in 27ª Reunião de Atualizações em Oncologia / 2º Congresso do CIMAGO, Coimbra, Portugal, 2013.
  3. 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". Paper presented in X CNC Annual Meeting, Coimbra, Portugal, 2012.
  4. 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". Paper presented in One Day Symposium, sponsored by EARC, Porto, Portugal, 2012.
  5. 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". Paper presented in 36th FEBS Congress, Biochemistry for Tomorrow's Medicine, Torino, Italy, 2011.
Journal article
  1. 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
  2. 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.
    Published • 10.3390/biology13020088
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
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  34. Ribeiro, Ilda; Caramelo, Francisco; Ribeiro, Margarida; Machado, Ana; Migu¿is, Jorge; Marques, Francisco; Carreira, Isabel; Melo, Joana. "Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis". Oncology Letters (2020): 3459-3468. http://dx.doi.org/10.3892/ol.2020.11459.
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  37. Carreira, Isabel. "Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients.". (2020):
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  46. Carreira, Isabel. "Molecular characterization of dilated cardiomyopathy". Revista Portuguesa de Cardiologia. (2019):
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  150. Carreira, I.M.; Melo, J.B.; Rodrigues, C.; Backx, L.; Vermeesch, J.; Weise, A.; Kosyakova, N.; Oliveira, G.; Matoso, E.. "Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 ¿ qter) detected in an autistic boy". Molecular Cytogenetics 2 1 (2009): http://www.scopus.com/inward/record.url?eid=2-s2.0-69549096133&partnerID=MN8TOARS.
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  151. Melo, J.B.; Matoso, E.; Polityko, A.; Saraiva, J.; Backx, L.; Vermeesch, J.R.; Kosyakova, N.; et al. "Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: Towards a genotype/phenotype correlation". Cytogenetic and Genome Research 125 2 (2009): 109-114. http://www.scopus.com/inward/record.url?eid=2-s2.0-70249089729&partnerID=MN8TOARS.
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  153. 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.
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  155. 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.
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Thesis / Dissertation
  1. Oliveira, Alexandra Maria de Jesus Couto. "Genomic Characterization of Monoclonal Gammopathies Patients". Master, 2018. http://hdl.handle.net/10316/86269.
  2. Oliveira, Alexandra Maria de Jesus Couto. "Genomic Characterization of Monoclonal Gammopathies Patients". Master, 2018. http://hdl.handle.net/10316/86269.
  3. Adão, Diana Cristina Antunes Candeias. "Characterization of Chronic Lymphocytic Leukemia by aCGH/MLPA". Master, 2018. http://hdl.handle.net/10451/35554.
  4. Domingues, Laura Maria Silvério. "Caracterização genómica e epigenética de biópsias de carcinoma basocelular". Master, 2018. http://hdl.handle.net/10451/36752.
  5. Oliveira, Alexandra Maria de Jesus Couto. "Genomic Characterization of Monoclonal Gammopathies Patients". Master, 2018. http://hdl.handle.net/10316/86269.
  6. Laíns, Inês Maria de Carvalho. "Metabolomics, Genetics and Environment: a Novel Integrative Approach to Age-related Macular Degeneration". PhD, 2018. http://hdl.handle.net/10316/92898.
  7. Ribeiro, Ilda Patrícia Tavares da Silva. "Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applications". PhD, 2017. http://hdl.handle.net/10316/79613.
  8. Tavares, Inês Moura. "Perfil genético em colangiocarcinoma.". Master, 2017. http://hdl.handle.net/10316/83139.
  9. Ribeiro, Maria Margarida Sá. "Cytogenomic characterization and DNA methylation patterns of laryngeal cancer". Master, 2017. http://hdl.handle.net/10316/81422.
  10. Ribeiro, Ilda Patrícia Tavares da Silva. "Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applications". PhD, 2017. http://hdl.handle.net/10316/79613.
  11. Tavares, Inês Moura. "Perfil genético em colangiocarcinoma.". Master, 2017. http://hdl.handle.net/10316/83139.
  12. Tavares, Inês Moura. "Perfil genético em colangiocarcinoma.". Master, 2017. http://hdl.handle.net/10316/83139.
  13. Ribeiro, Ilda Patrícia Tavares da Silva. "Head and Neck Squamous Cell Carcinoma: integrating genomic, epigenetic and transcriptomic data - from bench to clinical applications". PhD, 2017. http://hdl.handle.net/10316/79613.
  14. Ribeiro, Maria Margarida Sá. "Cytogenomic characterization and DNA methylation patterns of laryngeal cancer". Master, 2017. http://hdl.handle.net/10316/81422.
  15. Pedro, Nicole Sónia Neto. "Cachexia in patients with head and neck cancer undergoing radiotherapy or concurrent chemoradiotherapy : characterization, molecular mechanisms and relationships". Master, 2016. http://hdl.handle.net/10316/40773.
  16. Oliveira, Andreia Camila Monteiro. "Development of a non-invasive approach for oral squamous cell carcinoma diagnosis". Master, 2016. http://hdl.handle.net/1822/45413.
  17. Tomás, Mariana Santos Vidal. "Copy number variation analysis in retinal angiomatous proliferation". Master, 2016. http://hdl.handle.net/10316/34046.
  18. Rodrigues, Joana de Matos. "From genes to radioresistance in head and neck squamous cell carcinoma". Master, 2015. http://hdl.handle.net/10773/16133.
  19. Matoso, Eunice Maria Ruas de Campos. "Desequilíbrios genómicos nas patologias do desenvolvimento e do comportamento". PhD, 2015. http://hdl.handle.net/10316/26669.
  20. Lisboa, Sofia Matos. "Characterization of the genetic and epigenetic profile of tongue squamous cell carcinoma". Master, 2015. http://hdl.handle.net/10316/31683.
  21. Marques, Vanessa Alexandra Freire. "Genetic and epigenetic characterization of laryngeal carcinoma". Master, 2015. http://hdl.handle.net/10773/15016.
  22. Costa, Claúdia Sofia Fernandes da. "Prenatal diagnosis : state of the art". Master, 2014. http://hdl.handle.net/10316/31919.
  23. Gonçalves, João Carlos Martins. "Otimização da técnica de array CGH em diagnóstico pré-natal". Master, 2014. http://hdl.handle.net/10316/31569.
  24. Mendes, Ana Karina da Silva. "O MLPA (Multiplex Ligation-dependent Probe Amplification) e o aCGH (array Comparative Genomic Hybridization) no diagnóstico de alterações cromossómicas". Master, 2014. http://hdl.handle.net/10348/2938.
  25. Barreto, Mariana Carvalho. "Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipo". Master, 2014. http://hdl.handle.net/10316/29250.
  26. Gomes, Hélder Manuel Lopes. "aCGH no diagnóstico pré-natal de fetos com anomalias ecográficas". Master, 2013. http://hdl.handle.net/10773/12632.
  27. Portovedo, Sérgio Filipe Jesus. "Caracterização do perfil genómico do carcinoma pulmonar". Master, 2013. http://hdl.handle.net/10316/37847.
  28. Silva, Liliana Sofia Oliveira. "Relatório de estágio : mestrado em análises clínicas". Master, 2013. http://hdl.handle.net/10316/35727.
  29. 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". Master, 2013. http://hdl.handle.net/10348/6653.
  30. Domingues, Ana Beatriz Cainço. "Análise do padrão de metilação do carcinoma pavimento-celular da cavidade oral". Master, 2013. http://hdl.handle.net/10316/24690.
  31. 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". Master, 2013. http://hdl.handle.net/10316/24897.
  32. Vitorino, Ana Sofia Pereira Costa Silva. "Perfil genómico e caracterização clínica de crianças com sindrome X-frágil". Master, 2013. http://hdl.handle.net/10316/36425.
  33. Machado, Andrea Suzana Teixeira Lopes. "Clinical characterization and genetic analysis in women with premature ovarian insuficciency". Master, 2013. http://hdl.handle.net/10316/79808.
  34. Pinto, Marta Coelho. "Diagnóstico pré-natal citogenético: o impacto das novas tecnologias". Master, 2012. http://hdl.handle.net/10773/9750.
  35. Estrela, Filipe João Santos. "Caracterização citogénica e genómica de pacientes com MAC (microftalmia, anoftalmia e coloboma)". Master, 2012. http://hdl.handle.net/10316/47988.
  36. Guarino, Patrícia Isabel Silva. "Avaliação de alterações genéticas e epigenéticas envolvidas na susceptibilidade a cancro na síndrome de Down". Master, 2012. http://hdl.handle.net/10316/26044.
  37. Pais, Claudia Sofia Augusto. "Estudo citogenético e molecular em indivíduos com défice cognitivo : impacto na área médico-legal". Master, 2012. http://hdl.handle.net/10316/31615.
  38. 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". Master, 2011. http://hdl.handle.net/10316/25819.
  39. Peixoto, Sara Cecília Carneiro. "Relação genótipo-fenótipo em indivíduos com autismo". Master, 2011. http://hdl.handle.net/10316/30408.
  40. Brás, Marta Isabel Tomás. "A importância de rearranjos subteloméricos no atraso mental". Master, 2011. http://hdl.handle.net/10316/81375.
  41. Afonso, Tânia Sofia da Trindade. "Estudo da etiologia do autismo utilizando a técnica de MLPA". Master, 2011. http://hdl.handle.net/10316/18844.
  42. Oliveira, Rui Pedro Caetano Moreira de. "Efeitos da radiação ionizante em culturas celulares de amniócitos humanos". Master, 2011. http://hdl.handle.net/10316/80807.
  43. Oliveira, Micaela Ferreira de. "Estudo de genética molecular de cardiomiopatia hipertrófica". Master, 2011. http://hdl.handle.net/10316/81226.
  44. Melo, Maria Joana Lima Barbosa de. "Cytogenetic characterization of small supernumerary marker chromosomes : towards a genotype-phenotype correlation". PhD, 2010. http://hdl.handle.net/10316/17700.
  45. Gameiro, Pedro Centeio Ferraz. "Microdeletion 22QII.2 : a reason to feel blue?". Master, 2010. http://hdl.handle.net/10316/83610.
  46. Ferreira, Susana Isabel Canas. "Estudo das formas alélicas do gene FMR1 no síndrome do X-Frágil e na menopausa precoce". Master, 2009. http://catalogo.ul.pt/F/?func=item-global&doc_library=ULB01&type=03&doc_number=000576977.
  47. Almeida, Sónia Margarida Tavares Matos. "Estudo da etiologia do Autismo utilizando as técnicas de FISH e MLPA". Master, 2009. http://hdl.handle.net/10316/28676.

Other

Other output
  1. Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders. 2022. Lowther, C.; Mehrjouy, M.M.; Collins, R.L.; Bak, M.C.; Dudchenko, O.; Brand, H.; Dong, Z.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85127722590&partnerID=MN8TOARS.
    10.1101/2022.02.15.22270795
  2. Citogenética de próxima geração: implementação e primeiros resultados em Portugal. 2016. David,Dezso; Oliva-Teles,Natália; Freixo,J; Fortuna,Ana; Tkachenko,Natalyia; Carvalho,Isabel; Marques,M; et al. http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-07542016000400033.
  3. Unravelling the X Files: Challenges and Dilemmas. 2014. Carreira,Isabel M.. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200003.
Activities

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2023 - Current UNVEILING PREDICTIVE AND PROGNOSTIC BIOMARKERS IN ADVANCED STAGE OVARIAN CARCINOMA USING LIQUID BIOPSY
Co-supervisor
2023 - Current Characterization of trophoblast differentiation trajectory with the use of trophoblast organoids
Co-supervisor
2023 - Current INSIGHTS INTO MOLECULAR CYTOGENETIC ROUTINE DIAGNOSIS AND CHARACTERIZATION OF REPEATEDLY SHOWING UP CONSTITUTIVE CHROMOSOMAL INVERSIONS
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2023 - Current THE CYTOGENETIC STUDY AND Y CHROMOSOME MICRODELETION SCREENING IN THE ETIOLOGICAL INVESTIGATION OF PRIMARY MALE INFERTILITY
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2023 - Current A prática da Genética Molecular em contexto de diagnóstico
Supervisor
2023 - Current LABORATORY INTERNSHIP IN CYTOGENOMICS
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2023 - Current Molecular Diagnosis in Hemato-Oncology
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Current Do biomarkers in rectal cancer predict tumor regression grade after neoadjuvant radiotherapy?
Co-supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Current Cytogenetics and Cytogenomics Approaches in Pre-Natal and Post-Natal Diagnosis
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Current GENETIC STUDIES IN ONCOLOGY: A CLINICAL LABORATORIAL APPROACH
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Current HAEMATO-ONCOLOGY: CONVENTIONAL AND MOLECULAR CYTOGENETICS CONTRIBUTE AT CENTRO HOSPITALAR DE TRÁS OS MONTES E ALTO DOURO (CHTMAD)
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Current Cytogenetics and Molecular Biology thecniques in prenatal diagnosis in the context of ecographic malformations and ecographic alert signs
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2022 - Current Internship in Laboratorial Clinical Genetics
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal

Istituto Giannina Gaslini, Italy
2022 - Current Internship Report at the Giannina Gaslini Institute
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal

Istituto Giannina Gaslini, Italy
2021 - Current Glioblastoma Multiforme: Dynamic Changes Characterization in Circulating Tumor DNA During Chemo-Radiotherapy
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2021 - Current Non invasive prenatal test - Next Generation Sequencing
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2019 - Current Basal cell carcinomas of the scalp post-radiotherapy for tinea capitis in childhood: clinicopathologic and genetic study.
Co-supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2019 - Current Oral cancer: genomic profile and circulating tumor DNA in diagnosis and follow-up
Supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2018 - 2018 Genomic Characterization of Monoclonal Gammopathies Patients
Supervisor
Biologia Celular e Molecular (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2017 - 2017 Cytogenomic characterization and DNA methylation patterns of laryngeal cancer
Co-supervisor
Investigação Biomédica (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2017 - 2017 Perfil genético em colangiocarcinoma.
Supervisor
Bioquímica (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2015 - 2015 Characterization of the Genetic and Epigenetic Profile of Tongue Squamous Cell Carcinoma
Supervisor
Bioquímica (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2014 - 2014 Otimização da técnica de array CGH em diagnóstico pré-natal
Co-supervisor
Investigação Biomédica (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2014 - 2014 Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipo
Supervisor
Medicina (Master)
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
Supervisor
Envelhecimento e Doenças Crónicas (associação) (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2013 - 2013 Análise do padrão de metilação do carcinoma pavimento-celular da cavidade oral
Supervisor
Bioquímica (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2002 - 2002 Cytogenetic Characterization of Small Supernumerary Marker Chromosomes - Towards a Genotype/Phenotype Correlation
Supervisor
Ciências Biomédicas (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal

Event organisation

Event name
Type of event (Role)
Institution / Organization
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)
Congress (President of the Organising Committee)
Sociedade Portuguesa de Genética Humana (SPGH, Portugal

Jury of academic degree

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

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2020 - Current 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, Austria

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, Austria

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
Distinctions

Award

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

Other distinction

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